To see the other types of publications on this topic, follow the link: Linkage (genetics) Chromosome mapping.
Dissertations / Theses on the topic 'Linkage (genetics) Chromosome mapping'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 dissertations / theses for your research on the topic 'Linkage (genetics) Chromosome mapping.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.
1
Stephens, Sarah H. "Fine mapping of the chromosome 15q13-14 schizophrenia linkage region /." Connect to full text via ProQuest. Limited to UCD Anschutz Medical Campus, 2008.
Find full textAbstract:
Thesis (Ph.D. in Human Medical Genetics) -- University of Colorado Denver, 2008.<br>Typescript. Includes bibliographical references (leaves 112-128). Free to UCD Anschutz Medical Campus. Online version available via ProQuest Digital Dissertations;
2
Fratini, Antonio. "Fragile sites on human chromosome 16 : a linkage analysis study /." Title page, table of contents and summary only, 1988. http://web4.library.adelaide.edu.au/theses/09PH/09phf844.pdf.
Full text
3
Apostolou, Sinoula. "Physical mapping of human chromosome 16." Title page, contents and abstract only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09pha645.pdf.
Full text
4
Wahlberg, Per. "Chicken Genomics - Linkage and QTL mapping." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Universitetsbiblioteket [distributör], 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9502.
Full text
5
Åkesson, Eva. "Genetic mapping and association analysis in multiple sclerosis /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-174-1/.
Full text
6
Mulley, John Charles. "Genetic marker studies in humans /." Title page, contents and summary only, 1985. http://web4.library.adelaide.edu.au/theses/09PH/09phm958.pdf.
Full text
7
Tell, Désirée von. "Welander distal myopathy : gene mapping and analysis of candidate genes /." Stockholm, 2004. http://diss.kib.ki.se/2003/91-7349-764-9.
Full text
8
Modin, Helena. "Multiple sclerosis : linkage analysis and DNA variation in a complex trait /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7349-792-4/.
Full text
9
Djureinovic, Tatjana. "Investigation of genetic factors involved in colorectal cancer predisposition /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-864-9/.
Full text
10
Li, Fang-Yuan. "Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4695-7/.
Full text
11
Lapsys, Naras Mykolas. "The FRA 16B locus : long range restriction mapping of 16q13-16q22.1 /." Title page, table of contents and summary only, 1993. http://web4.library.adelaide.edu.au/theses/09PH/09phl317.pdf.
Full text
12
Mantello, Camila Campos 1985. "Mapeamento genético molecular em Hevea brasiliensis = Genetic linkage mapping in Hevea brasiliensis." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316488.
Full textAbstract:
Orientadores: Anete Pereira de Souza, Antonio Augusto Franco Garcia<br>Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-25T14:06:27Z (GMT). No. of bitstreams: 1
Mantello_CamilaCampos_D.pdf: 14575904 bytes, checksum: 3588e88f982780fe09718e2b837d7824 (MD5)
Previous issue date: 2014<br>Resumo: Aproximadamente 2.500 espécies são conhecidas por produzirem borracha natural e a seringueira, [Hevea brasiliensis (Willd. ex Adr. de Juss.) Muell-Arg.], espécie nativa da Amazônia e pertencente ao gênero Hevea, é a maior fonte de borracha natural do mundo. A borracha natural é matéria prima para fabricação de mais de 40.000 produtos tendo importância fundamental na indústria de pneus. Apesar de a região Amazônica oferecer condições climáticas adequadas para seu crescimento e desenvolvimento, esta área também possui condições favoráveis à ocorrência do mal-das-folhas (Microcyclus ulei P. Henn v. Arx), doença também conhecida como mal sulamericano das folhas (South American Leaf Bligth ¿ SALB). Dessa maneira, a heveicultura se expandiu para áreas de escape que propiciam novas condições de estresse, limitando o seu crescimento e a produção de látex. O melhoramento genético vem buscando cultivares adaptados a estas regiões de escape, porém o ciclo de melhoramento da seringueira é longo e não permite o rápido desenvolvimento de novos cultivares. O desenvolvimento de ferramentas na biologia molecular permite o melhor entendimento da espécie e pode diminuir o tempo gasto nos ensaios de campo. O presente trabalho desenvolveu novos marcadores microssatélites (SSRs) a partir de bibliotecas enriquecidas em microssatélites. A caracterização destes marcadores mostrou a alta variabilidade alélica dentro de H. brasiliensis e o teste de transferibilidade dos SSRs em outras seis espécies do gênero Hevea mostrou alelos exclusivos para as mesmas e taxas de amplificação superior a 80%. Com o objetivo desenvolver novos marcadores SSRs e single nucleotide polymorphisms (SNPs) em larga escala, foi sequenciado na plataforma Illumina GAIIx o transcriptoma de painel de dois cultivares importantes para a heveicultura (GT1 e PR255). A montagem e a caracterização do transcriptoma permitiu o melhor entendimento da dinâmica do transcriptoma em H. brasiliensis e identificou novos transcritos para a espécie. As sequências do transcriptoma foram submetidas à busca de SSRs e SNPs. No transcriptoma, foram identificados 1.709 novas sequências contendo SSRs para seringueira, a uma frequência de um SSR a cada 2,8 kb. Já a busca de SNPs identificou 404.114 SNPs com frequência de um SNP a cada 125 pb. Através da anotação no Kyoto Encyclopedia of Genes and Genomes (KEGG), foram identificadas sequências anotadas a todas as enzimas referentes às duas vias de síntese de látex (mevalonato - MVA e C-metileritritol 4-fosfato -MEP). Apesar de as vias MVA e MEP serem muitos estudadas, esta foi a primeira vez que SNPs foram identificados e validados. Os marcadores SSRs e SNPs foram então mapeados em uma população segregante F1. O mapa genético obtido contém 383 marcadores mapeados em 20 grupos de ligação. Neste trabalho foram desenvolvidos 52 SSRs e 51 SNPs do total de marcadores mapeados. Como o número de grupos de ligação esperado é 18 (2n=36), conclui-se que o mapa genético obtido mostra que ainda há uma cobertura incompleta do genoma. Devido à alta frequência de SNPs no genoma, o desenvolvimento de novos marcadores poderá saturar o mapa de forma homogênea, permitindo o agrupamento dos marcadores nos 18 grupos de ligação esperados<br>Abstract: Approximately 2.500 species are known to produce natural rubber. Hevea brasiliensis (Willd. ex Adr. de Juss.) Muell-Arg. also known as rubber tree is a species native to the Amazon rainforest and is the largest source of natural rubber in the world. Natural rubber has been used in more than 40,000 products and has great importance in the tire industry. Although the Amazon rainforest offers optimal conditions for growth and rubber yields due to its warm and humid climate, this region also provides optimal conditions for the fungus Microcyclus ulei P. Henn v. Arx which causes the South American Leaf Blight (SALB) disease. Thus, rubber tree plantations have expanded to escape areas that provides new stress conditions limiting their growth and latex production. The rubber tree breeding is trying to create a new cultivar that is resistant to these new conditions but the rubber tree cycle breeding is long and does not allow a rapid cultivar development. Thus, molecular biology techniques could provide a greater knowledge of H. brasiliensis genetic and could optimize field evaluation and, thus, reduce the time and area required for experiments. The present work developed new microsatellites (SSRs) markers for rubber tree from genomic enriched libraries. The new microsatellites were characterized and demonstrated a high allelic variability within H. brasiliensis genotypes. The transferability rate in other six species of the genus Hevea was greater than 80%. To develop new SSRs and single nucleotide polymorphisms (SNPs) markers, the panel transcriptome from two important cultivars (GT1 and PR255) was sequenced in Illumina GAIIx platform. The transcriptome obtained allowed a better knowledge about H. brasiliensis transcriptome and identified new transcripts for rubber tree public database. The sequences were submitted to a SSR and SNP search. The SSR frequency was one SSR each 2.8 kb and it was identified 1.709 new sequences with new SSRs for rubber tree database. A total of 404.114 putative SNPs were detected with a frequency of one SNP every 125 bp. Through Kyoto Encyclopedia of Genes and Genomes (KEGG) annotation, it was identified contigs corresponding to all the enzymes of mevalonate (MVA) and -C-methyl-D-erythritol 4-phosphate (MEP). Despite MVA and MEP pathways are being very well studied, since they are directly involved to rubber biosynthesis, this is the first time that molecular markers have been developed for such important pathways. The SSRs and SNPs developed were mapped in a full-sib population. The genetic linkage map has 383 molecular markers distributed in 20 linkage groups. This project contributed with 52 SSRs and 51 SNPs of the total mapped markers. Although the expected number of linkage groups are 18 (2n=36), the new genetic linkage map still has an incomplete coverage of the genome. Due to the high frequency of the SNPs in the genome, the development of new markers can saturate this map homogeneously<br>Doutorado<br>Genetica Vegetal e Melhoramento<br>Doutora em Genética e Biologia Molecular
13
Graham, Jinko. "Disequilibrium fine-mapping of a rare allele via coalescent models of gene ancestry /." Thesis, Connect to this title online; UW restricted, 1998. http://hdl.handle.net/1773/9568.
Full text
14
Nohra, Rita. "Characterization of Eae4 and Eae19-22 in autoimmune neuroinflammation /." Stockholm, 2006.
Find full text
15
Mota, Velasco Gallardo Jose Cuitlahuac. "Physical and linkage mapping of genetic markers and genes associated with sex determination in tilapia (Oreochromis spp.)." Thesis, University of Stirling, 2007. http://hdl.handle.net/1893/319.
Full textAbstract:
In order to combine previous observations from different sources on sex determination, and to identify sex chromosomes including the major sex determination locus in Nile tilapia, physical and genetic maps based on sex-linked markers and genes (such as sex-linked AFLPs, microsatellites, ovarian aromatase and DMO genes) were integrated and anchored. An accurate physical map using FISH techniques on mitotic cells was developed based on a previous map and 23 tilapia BAC clones previously assigned to linkage groups (LGs) 1, 3, 6, 7, 10 and 12; and on meiotic cells, 2 BAC clones containing the SLAM OniY227 and the dmrt4 gene were mapped. The six linkage groups were then assigned to different chromosomes, but surprisingly, the putative sex LG1 was located to a small submetacentric chromosome and not to the larger subtelocentric chromosome 1, where LG3 was assigned instead. The other LGs were assigned to different chromosomes and oriented with respect to the centromeres. A detailed comparison of the physical distribution of markers on chromosome 1 with respect to LG3 revealed a suppression in recombination in the subtelomeric region of the q arm between the marker GM354 (0 cM) and clcn5 (29 cM) and an abrupt increment of recombination between clcn5 (29 cM) and GM128 (77 cM) close to the centromere (Flpter=0.2). The unpairing region (20% of the total length) observed on the larger bivalents of XY fish during early pachytene in meiotic cells has been confirmed by DAPI staining and FISH to be at the terminal part of the q arm, opposite to the centromere. Comparison with six other tilapia species (2n=44) revealed a well conserved karyological distribution of the suspected LGs associated with sex determination (1 and 3). Besides, in O. karongae (2n=38) it was shown by SATA and UNH995/UNH104 marker hybridisation that LG1 has been re-arranged into the subtelomeric chromosome 2 as a result of a telomere-telomere fusion. A pool of 15 tilapia BAC clones previously localised on chromosome 1 and containing sex-linked AFLPs, dmrt1, dmrt4 and several SINEs were screened for new microsatellites; BACs were digested with SAU3AI and TC, GT, ATCT and CTGT probes radio-labelled with 32P. The high abundance of repetitive sequences in the BACs used led to only one useful polymorphic and co-dominant marker being obtained, associated to a BAC clone containing a copy of the dmrt1 gene on chromosome 1 (Flpter=0.85). Four linkage maps were constructed from an XY male, XY neofemale, XX neomale and XX female, mapping 4 and 8 markers on LG1 and LG3 (including the dmrt1 associated microsatellite) respectively. A specific sex-determination locus was identified on LG1 clearly linked with UNH995. However there appeared to be different allelic strengths for this sex determination locus, as shown by different sex ratios associated with different UNH995 genotypes. Additionally, one of the two XX fish mapped, showed the location of the recessive black blotching trait on LG3 (chromosome 1) between the markers GM128 and GM526, close to the centromere (Flpter=0.14). The results presented suggest a nascent Y chromosome in early stage of differentiation in Nile tilapia and with a functional master gene on LG1 close to the marker UNH995 (Flpter=0.67) located on the q arm of a small submetacentric chromosome. The potential influences of the autosomal LG3 (chromosome 1) in sex differentiation are also discussed.
16
Köhn, Linda. "Genetic mapping of retinal degenerations in Northern Sweden." Umeå : Umeå university, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-27004.
Full text
17
Gunadi, Andika. "Characterization of Rps8 and Rps3 Resistance Genes to Phytophthora sojae through Genetic Fine Mapping and Physical Mapping of Soybean Chromosome 13." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1354640151.
Full text
18
Hanauer, André. "Le chromosome x humain : recherche de sequences exprimees et localisation genique de deux loci correspondanta des maladies." Université Louis Pasteur (Strasbourg) (1971-2008), 1989. http://www.theses.fr/1989STR13010.
Full textAbstract:
Caracterisation d'expressions geniques liees au chromosome x, de 6 sequences genomiques humaines liees au chromosome x; localisation du syndrome coffin-lowry par analyse de linkage et de la dysplasie ectodermique anhidrotique
19
Cummings, James Rowland Fraser. "Linkage Disequilibrium Mapping of Chromosome 19 on Crohn's Disease." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.531666.
Full text
20
Millwood, Iona Y. "A genetic linkage map of the rat X chromosome." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.390530.
Full text
21
Creavin, Treasa Agnes Della Geraldine. "Transcriptional mapping of human chromosome 16p12.3-p12.2." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321891.
Full text
22
Badenhorst, Daleen. "Development of AFLP markers for Haliotis midae for linkage mapping." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/21525.
Full textAbstract:
Thesis (MSc)--Stellenbosch University, 2008.<br>ENGLISH ABSTRACT: Haliotis midae, is the only commercially important species of the six abalone species
found in South African coastal waters and has become a lucrative commercial
commodity. Wild stocks of H. midae are, however, no longer commercially sustainable
due to a combination of environmental factors and poaching. The solution to the crisis is
artificial production systems in the form of abalone farms. An abalone enhancement
programme was initiated in South Africa in 2006, funded by industry and government.
This programme focuses on the elucidation of the abalone genome and genetic factors
contributing to increased productivity, thereby aiding the commercial production of
abalone.
The aims of this study, the first of its kind concerning H. midae, were to develop AFLPbased
markers (specifically fluorescent AFLP analysis); to monitor the segregation of
these markers in a single full-sib family and to use the markers and additional
microsatellite markers to generate the first preliminary linkage map for H. midae.
Genomic DNA of sufficient quality and purity for fluorescent AFLP analysis was
obtained from 3.5-month-old H. midae juveniles. Preliminary linkage maps were
constructed using AFLP and microsatellite markers segregating in an F1 family following
a pseudo-testcross mapping strategy. Twelve AFLP primer combinations, producing 573
segregating peaks, and 10 microsatellite markers were genotyped in the parents and 108
progeny of the mapping family. Of the 573 segregating AFLP peaks genotyped, 241
segregated in a 1:1 ratio and 332 in a 3:1 ratio. Of these AFLP markers, 90 segregated
according to the expected 1:1 Mendelian ratio and 164 segregated according to the
expected 3:1 Mendelian ratio at the P = 0.05 level and were used for linkage analysis. Of
the 10 microsatellite markers genotyped, nine were informative for linkage mapping
analysis.
Preliminary male and female genetic linkage maps were developed using markers
segregating in the female or male parent. A total of 12 and 10 linkage groups were
detected for the female and male maps respectively. The female map covered 1473.5cM
and consisted of 56 markers, and the male map covered 738.9cM consisting of 30
markers. Markers with segregation distortion were observed as previously reported in
other abalone species and potential homology between one of the linkage groups of the male map and two of the linkage groups of the female map were identified using the 3:1
segregating AFLP markers.
In conclusion, the genetic linkage map presented here, despite the fact that it has relatively
low genome coverage and low marker density, forms an ideal starting point for more
detailed study of the H. midae genome and will provide a scaffold for basic and applied
studies in abalone. A high-density linkage map of H. midae should in future be developed
with additional co-dominant molecular markers, such as microsatellites, to improve the
transferability of the linkage map between different laboratories and among populations.
A high-density linkage map will facilitate the mapping of QTL of commercially important
traits (i.e. growth) and future MAS breeding programmes.<br>AFRIKAANSE OPSOMMING: Perlemoenspesie, Haliotis midae, is die enigste spesie van kommersiële belang van die
ses wat in die kuswater van Suid-Afrika aangetref word en het ‘n winsgewende
handelskommoditeit in Suid-Afrika geword. Die ontginning van natuurlike H. midae
populasies is egter, as gevolg van ‘n kombinasie van omgewingsfaktore en stropery nie
meer kommersieel volhoubaar nie. Die perlemoenkrisis kan die hoof gebied word deur
kunsmatige produksiesisteme op perlemoenplase tot stand te bring. ‘n Perlemoen
verbeteringsprogram is in 2006 in Suid-Afrika geïnisieer en word deur die industrie en
regering befonds. Die program focus op die ontrafeling van die perlemoen genoom en die
genetiese faktore wat bydrae tot verhoogde produksie. Sodanige inligting kan gebruik
word om kommersiële perlemoenproduksie te bevorder.
Die doel van hierdie studie, die eerste met H. midae, is om AFLP-gebaseerde merkers
(spesifiek fluoresserende AFLP analise) te ontwikkel; die segregasie van hierdie merkers
te monitor in ‘n enkel volledige verwante familie en die merkers en addisionele
mikrosatelliet merkers te gebruik om die eerste voorlopige koppelingskaart vir H. midae
te genereer.
Genomiese DNS van genoegsame kwaliteit en suiwerheid vir fluoresserende AFLP
analise is ge-ekstraeer uit 3.5-maand-oue H. midae individue. Voorlopige
koppelingskaart is gekonstrueer deur van segregerende AFLP en mikrosatelliet merkers in
‘n F1 familie gebruik te maak deur ‘n pseudo-kruistoets karteringstrategie te volg. Twaalf
AFLP inleier kombinasies, wat 573 segregerende fragmente geproduseer het, en 10
mikrosatelliet merkers is gegenotipeer in die ouers en 108 individue van die nageslag van
die karteringsfamilie. Van die 573 segregerende AFLP merkers wat gegenotipeer is, het
241 in ‘n 1:1 verhouding en 332 in ‘n 3:1 verhouding gesegregeer. Van hierdie AFLP
merkers, het 90 volgens die verwagte 1:1 Mendeliese verhouding en 164 volgens die 3:1
Mendeliese verhouding by die P = 0.05 gesegregeer vlak en is vir die koppelingsanalise
gebruik. Van die 10 mikrosatelliet merkers gegenotipeer, was 9 informatief vir koppeling
karteringsanalise.
Voorlopige manlike en vroulike genetiese koppelingskaarte is ontwikkel met gebruik te
maak van merkers wat in die manlike of vroulike ouer segregeer het. ‘n Totaal van 12 en
10 koppelingsgroepe is onderskeidelik in die vroulike en manlike karate gegenereer. Die vroulike kaart dek 1473.5cM and bestaan uit 56 merkers, terwyl die manlike kaart
738.9cM beslaan het met 30 merkers. Merkers wat segregasie distorsie toon is
waargeneem soos voorheen in ander perlemoenspesies gerapporteer. Potensiële
ooreenstemming tussen een van die koppelingsgroepe van die manlike kaart en twee van
die koppelingsgroepe van die vroulike kaart is aangetoon deur van die 3:1 segregerende
AFLP merkers gebruik te maak.
Die genetiese koppelingskaarte verskaf wel ‘n relatiewe lae genoomdekking en ‘n lae
merkerdigtheid, maar is ‘n ideale vertrekpunt vir meer gedetailleerde studie van die H.
midae genoom en dien as ‘n raamwerk vir toekomstige basiese en toegepaste studies in
perlemoennavorsing. ‘n Hoëdigtheid koppelingskaart van H. midae moet in die toekoms
ontwikkel word met gebruik van bykomstige ko-dominante molekulêre merkers, soos
mikrosatelliete. Dit sal die oordraagbaarheid van die koppelingskaart tussen verskillende
laboratoria asook tussen populasies verbeter. ‘n Hoëdigtheid koppelingskaart sal die
kartering van kwantitatiewe kenmerk loki (KKL) vir kommersieel belangrike kenmerke
(onder andere groeikrag) en toekomstige merker bemiddelde seleksie (MBS)
teelprogramme moontlik maak.
23
Cooper, Anneli Clare. "Linkage mapping and genetic analysis of Trypanosoma brucei." Thesis, University of Glasgow, 2010. http://theses.gla.ac.uk/1656/.
Full textAbstract:
Trypanosoma brucei is a protozoan parasite of major public health and economic importance in sub-Saharan Africa, where it is the causative agent of sleeping sickness in man and Nagana in cattle. The complete genome sequence of T.brucei is now available and the diploid genetic system has recently been demonstrated to be Mendelian. This opens up the possibility of using a classical genetic approach to identify genetic loci that determine important phenotypic traits in this parasite, such as host specificity, drug resistance, and pathogenicity. A genetic map of the non human-infective subspecies, T.b.brucei, has already been assembled and successfully used in quantitative trait analysis of a number of traits specific to this pathogen. This thesis describes the construction of a separate genetic map for the sub-species responsible for > 90% of human African trypanosomiasis infections, T.b.gambiense, which differs significantly from T.b.brucei in many key phenotypes. The genetic linkage map was constructed from the analysis of 119 polymorphic microsatellite markers in a population of 38 F1 progeny, obtained from the genetic cross of a T.b.gambiense group 2 strain, STIB 386, with a T.b.brucei strain, STIB 247. Eleven major linkage groups were resolved, one for each of the megabase chromosomes, resulting in a total genetic map length of 733 cM, and an average map unit size of 24 Kb/cM. The map provides a 90% probability of a marker being within 268 Kb of any genetic locus. A comparative analysis of the T.b.gambiense and T.b.brucei genetic maps revealed synteny and marker order to be conserved between the two sub-species. However, variation was observed in the location of regions of high and low recombination frequency (hot and cold spots) in the two maps. The genetic linkage map presented here is the first available for T.b.gambiense and can now be utilised to find the location within the genome of genes responsible for phenotypic traits in this clinically important sub-species. These traits include human infectivity, tsetse transmissibility and virulence, in addition to sensitivity to the trypanocidal drug, pentamidine, for which phenotypic variation between the parents was characterised both in vitro and in vivo in this thesis. The ability of the T.brucei genetic maps to pinpoint loci underlying phenotypic variation is limited by the number of recombination events, and therefore progeny, available for analysis. To increase the utility of this approach for future studies, an improved method for progeny isolation from uncloned genetic cross populations was also developed. This in vitro bloodstream cloning procedure is scalable and efficient, and replaces a time consuming and technically demanding in vivo method. Twelve new progeny clones were isolated by this approach during the trial and incorporated into the analysis, representing a step toward a higher resolution second-generation genetic map. Finally, whilst undertaking genotyping analysis with microsatellite markers the development of spontaneous chromosome 10 abnormalities was observed. A detailed investigation identified seven laboratory-adapted T.brucei lines in which loss of heterozygosity appeared to have occurred. These alterations to the karyotype significantly exceeded the well-characterised genomic rearrangements of subtelomeric regions that are frequently associated with antigenic variation in African trypanosomes. Microsatellite analysis, pulsed field gel electrophoresis and Illumina next generation sequencing demonstrated these changes to be the product of mitotic recombination events in the chromosome core, resulting in an extensive loss of heterozygosity of up to 75% of the chromosome and correlated with an improved growth phenotype. Further work is now required to determine the extent and frequency with which these abnormalities might occur, however these findings do highlight the potential instability of the molecular karyotype of T.brucei in prolonged in vitro culture.
24
Jansen, Suzaan. "Linkage mapping in Haliotis midae using gene-lnked markers." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/20347.
Full textAbstract:
Thesis (MSc)--Stellenbosch University, 2012.<br>ENGLISH ABSTRACT: Haliotis midae, or more commonly known as Perlemoen, is an abalone species found along the coast of South Africa. It is the only cultured abalone species in South Africa and has a high demand abroad. Due to its popularity as a seafood delicacy, illegal harvesting has taken its toll on Perlemoen numbers. This increases the need for sustainable farming efforts and efficient implementation of law enforcement practices against poachers. Abalone farms make use of a limited number of broodstock for breeding, so it is necessary to ensure that genetic effects such as inbreeding and bottlenecks do not interfere with the viability of the offspring. Research that focuses on the genetics of Perlemoen will greatly aid the farms to continue sustainable production of this species as well as enhance their breeding efficiency. This study focuses on the construction of a linkage map for H. midae that will allow the future identification of markers associated with genes important to production, such as growth and disease resistance. Identification of these genes will allow breeders to select genetically superior abalone that will be used for breeding programmes in which the phenotype of the offspring will be enhanced.
For the construction of a linkage map it is necessary to have enough informative markers for mapping. In this study, gene-linked microsatellite markers were developed by screening a contig assembly of H. midae’s transcriptome. Ninety-eight primer pairs could be developed from the contigs and 60 loci produced amplification products. Twenty-six microsatellites were found to be polymorphic (27% success rate).
In addition to these markers, 239 previously developed microsatellites and 48 gene-linked SNPs were used to develop sex-average and sex-specific linkage maps in four full-sib families consisting of approximately 100 offspring each. Of these markers 99 were informative in family DS1 (31% success rate), 81 in family DS2 (26%), 77 in family DS5 (24%) and 71 in family DS6 (23%). These markers were used for linkage analysis (LOD>3). The average number of linkage groups for the sex-average maps ranged from 17-19. The average genome length for these maps ranged from 700cM to 1100cM with an average marker spacing of 8cM. The sex-specific maps’ linkage groups ranged from 13-17 with an average genome length of 600cM to 1500cM. The average marker spacing was approximately 16cM. The integrated map was constructed by merging the sex-average maps. This map contained 25 linkage groups with an average genome length calculation of 1700cM and an average marker spacing of 9.3cM.
The linkage maps created in this study are the first to utilize SNPs in H. midae. Further incorporation of SNPs into linkage maps will enhance the density. The maps created in this study are of medium-density (65%) and provide a link to the development of high-density linkage maps to facilitate associations of phenotypic traits to certain markers, to so that QTL mapping can be performed. This information can be used for marker-assisted selection to produce genetically superior abalone.<br>AFRIKAANSE OPSOMMING: Haliotis midae, of meer algemeen bekend as Perlemoen, is 'n klipkous spesie wat langs die kus van Suid-Afrika voorkom. Dit is die enigste gekweekte klipkous spesie in Suid-Afrika en het 'n hoë aanvraag in die buiteland. As gevolg van sy gewildheid as 'n seekos lekkerny, het onwettige stropery sy tol geneem op Perlemoen getalle. Hierdie verhoog die behoefte vir volhoubare boerdery pogings en doeltreffende implementering van wetstoepassing teen stropers. Perlemoenplase maak gebruik van 'n beperkte aantal broeidiere vir teling, dus is dit nodig om te verseker dat genetiese effekte soos inteling en genetiese bottelnekke nie inmeng met die lewensvatbaarheid van die nageslag nie. Navorsing wat fokus op die genetika van Perlemoen sal grootliks die plase steun om die volhoubare produksie van hierdie spesie voort te sit, sowel as hul teling doeltreffendheid te verbeter. Hierdie studie fokus op die ontwikkeling van 'n genetiese koppelingskaart vir H. midae, wat die toekomstige identifisering van die merkers wat verband hou met die gene wat belangrik is vir die produksie, soos groei en weerstand teen siektes sal verbeter. Identifisering van hierdie gene sal toelaat dat telers genetiese voortreflike Perlemoen kan kies vir teelprogramme waartydens die fenotipe van die nageslag sal verbeter word.
Vir die ontwikkeling van 'n genetiese koppelingskaart is dit nodig om genoeg informatiewe merkers vir die kartering te hê. In hierdie studie, is geen-gekoppelde mikrosatelliet-merkers ontwikkel deur ‘contig’ data van H. midae se transkriptoom te ondersoek. Agt en negentig inleier pare kon ontwikkel word uit die ‘contigs’ en 60 loki kon ‘n amplifiseringsproduk lewer. Ses-en-twintig mikrosatelliete was polimorfies (27% suksessyfer).
Bykomend tot hierdie ontwikkelde merkers is 239 voorheen ontwikkelde mikrosatelliete en 48 geen-gekoppelde SNPs gebruik om geslagsgemiddelde en geslagspesifieke koppelingskaarte in vier volsib families, wat uit ongeveer 100 nageslag elk bestaan, te ontwikkel. Van hierdie merkers was 99 informatief in familie DS1 (31%), 81 in die familie DS2 (26%), 77 in die familie DS5 (24%) en 71 in die familie DS6 (23%). Hierdie merkers is gebruik vir 'n koppelingsanalise (LOD>3). Die gemiddelde aantal koppelingsgroepe vir die geslagsgemiddelde kaarte het gewissel van 17-19. Die gemiddelde genoom lengte vir hierdie kaarte het gewissel van 700cM tot 1100cM met 'n gemiddelde merker spasiëring van 8cm. Die koppelingsgroepe van die geslagspesifieke kaarte het gewissel van 13-17 met 'n gemiddelde genoom lengte van 600cM tot 1500cM. Die gemiddelde merker spasiëring was ongeveer 16cm. Die geïntegreerde kaart is saamgestel deur die samesmelting van die geslagsgemiddelde kaarte. Die kaart toon 25 koppelingsgroepe met 'n gemiddelde berekende genoom lengte van 1700cM en' n gemiddelde merker spasiëring van 9.3cM.
Die genetiese koppelingskaarte wat in hierdie studie ontwikkel is, is die eerste om SNPs te gebruik in H. midae. Verdere insluiting van SNPs in koppelingskaarte sal die digtheid verhoog. Die kaarte wat in hierdie studie ontwikkel is, is van medium digtheid (65%) en bied 'n stap nader aan die ontwikkeling van hoë digtheid koppelingskaarte om fenotipiese eienskappe met sekere merkers te assosieer, vir kwantitatiewe kenmerk lokus kartering. Hierdie inligting kan gebruik word vir merker bemiddelde seleksie om geneties verbeterde Perlemoen te produseer.
25
Morroll, Shaun Michael. "Mapping of yeast artificial chromosomes from Arabidopsis chromosome 5." Thesis, University of Nottingham, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.308922.
Full text
26
Derry, Jonathan Michael James. "Genetic and physical mapping of the mouse X chromosome." Thesis, University of Cambridge, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239109.
Full text
27
Lowe, Jennifer Kathryn. "Linkage mapping and molecular characterization of canine inherited eye diseases /." Thesis, Connect to this title online; UW restricted, 2002. http://hdl.handle.net/1773/5054.
Full text
28
Basu, Saonli. "Allele-sharing methods for linkage detection using extended pedigrees /." Thesis, Connect to this title online; UW restricted, 2005. http://hdl.handle.net/1773/8931.
Full text
29
Kirchgessner, Cordula U. "The Human Synapsin I Gene: Linkage Mapping on the X Chromosome: A Dissertation." eScholarship@UMMS, 1991. http://escholarship.umassmed.edu/gsbs_diss/241.
Full textAbstract:
In this dissertation I describe the isolation and characterization of genomic clones for the human synapsin I gene, the establishment of a linkage map for the human synapsin I gene locus, and studies of the possible involvement of this gene in neurological disease.
Synapsin I is a neuron-specific phosphoprotein which is concentrated at the presynaptic terminal. Evidence suggests that it plays a fundamental role in the regulation of neurotransmitter release. Altogether 27,500 bp of the human synapsin I gene have been isolated, and the gene structure has been partially determined. DNA sequence comparisons between human and rat genes show a high degree of conservation. Sequenced exons display an 87% identity to each other.
The synapsin I genomic clones were employed in the search for a polymorphic marker. A compound (AC)n repeat located 1000 base pairs downstream from the human synapsin I gene and within the last intron of the A-raf-1 gene has been identified. DNA database comparisons of the sequences surrounding the repeat indicate that the synapsin I gene and the A-raf-1 gene lie immediately adjacent to each other, in opposite orientation. Polymerase chain reaction amplification of this synapsin I / A-raf-1 associated repeat using total genomic DNA from members of the 40 reference pedigree families of the Centre d'Etude du Polymorphisme Humaine showed it to be highly polymorphic, with a polymorphic information content value of 0.84 and a minimum of eight alleles. Because the synapsin I gene had been mapped previously to the short arm of the human X chromosome at Xp11.2, linkage analysis was performed with markers on the proximal short arm of the X chromosome. The most likely gene order is:
DXS7 - SYN/ARAF1 - TIMP - DXS255 - DXS146
with a relative probability of 5 x 108 compared with the next most likely order.
The SynI/Araf marker was next utilized in a linkage study aimed at establishing a more accurate placement of the genetic locus responsible for the ocular disorder Congenital stationary night blindness, which had been mapped previously close to DXS7. Our results confirm this prior localization and also exclude any placement proximal to the SYN/ARAF1 locus.
Finally, the inheritance of the different alleles of the SynI/Araf marker in three families with Rett syndrome, a severe neurodegenerative disorder, which has been assigned to the X chromosome, was studied. In at least one of the families in which two half sisters with the same mother suffer from the disease, the inheritance of Rett syndrome was discordant with the inheritance of the same allele for the SynI/Araf marker.
Thus, this highly informative repeat has proven already effective in the study of X-linked diseases and should serve as a valuable marker for disease loci mapped to the Xp11 region.
30
Zenger, Kyall Richard. "Genetic linkage maps and population genetics of macropods." Phd thesis, Australia : Macquarie University, 2002. http://hdl.handle.net/1959.14/47604.
Full textAbstract:
"November 2001".<br>Thesis (PhD)--Macquarie University, Division of Environmental and Life Sciences, Department of Biological Sciences, 2002.<br>Bibliography: leaves 136-157.<br>General introduction -- Molecular markers for comparative and quantitative studies in macropods -- Genetic linkage map construction in the tammar wallaby (M. eugenii) -- Intraspecific variation, sex-biased dispersal and phylogeography of the eastern grey kangaroo (M. giganteus) -- General discussion.<br>The analysis of DNA using molecular techniques is an important tool for studies of evolutionary relationships, population genetics and genome organisation. The use of molecular markers within marsupials is primarily limited by their availability and success of amplification. Within this study, 77 macropodid type II microsatellite loci and two type I genetic markers were characterised within M. eugenii to evaluate polymorphic levels and cross-species amplification artifacts. Results indicated that 65 microsatellite loci amplified a single locus in M. eugenii with 44 exhibiting high levels of variability. The success of crossspecies amplification of microsatellite loci was inversely proportional to the evolutionary distance between the macropod species. It is revealed that the majority of species within the Macropodidae are capable of using many of the available heterologous microsatellites. When comparing the degree of variability between source-species and M. eugenii, most were significantly higher within source species (P < 0.05). These differences were most likely caused by ascertainment bias in microsatellite selection for both length and purity. -- The production of a marsupial genetic linkage map is perhaps one of the most important objectives in marsupial research. This study used a total of 353 informative meioses and 64 genetic markers to construct a framework genetic linkage map for M. eugenii. Nearly all markers (93.7%) formed a significant linkage (LOD > 3.0) with at least one other marker. More than 70% (828 cM) of the genome had been mapped when compared with chiasmata data. Nine linkage groups were identified, with all but one (LG7; X-linked) allocated to the autosomes. Theses groups ranged in size from 15.7 cM to 176.5 cM, and have an average distance of 16.2 cM between adjacent markers. Of the autosomal linkage groups, LG2 and LG3 were assigned to chromosome 1 and LG4 localised to chromosome 3 based on physical localisation of genes. Significant sex-specific distortions towards reduced female recombination rates were revealed in 22% of comparisons. Positive interference was observed within all the linkage groups analysed. When comparing the X-chromosome data to closely related species it is apparent that it is conserved both in synteny and gene order. -- The investigation of population dynamics of eastern grey kangaroos has been limited to a few ecological studies. The present investigation provides analysis of mtDNA and microsatellite data to infer both historical and contemporary patterns of population structuring and dispersal. The average level of genetic variation across sample locations was exceedingly high (h = 0.95, HE = 0.82), and is one of the highest observed for marsupials. Contrary to ecological studies, both genic and genotypic analyses reveal weak genetic structure of populations where high levels of dispersal may be inferred up to 230 km. The movement of individuals was predominantly male-biased (average N,m = 22.61, average N p = 2.73). However, neither sex showed significant isolation by distance. On a continental scale, there was strong genetic differentiation and phylogeographic distinction between southern (TAS, VIC and NSW) and northern (QLD) Australian populations, indicating a current and / or historical restriction of geneflow. In addition, it is evident that northern populations are historically more recent, and were derived from a small number of southern eastern grey kangaroo founders. Phylogenetic comparisons between M. g. giganteus and M. g. tasmaniensis, indicated that the current taxonomic status of these subspecies should be revised as there was a lack of genetic differentiation between the populations sampled.<br>Mode of access: World Wide Web.<br>xv, 182 leaves ill
31
Du, Plessis Jana. "Medium-throughput SNP genotyping and linkage mapping in Haliotis midae." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/71701.
Full textAbstract:
Thesis (MSc)--Stellenbosch University, 2012.<br>ENGLISH ABSTRACT: Haliotis midae (locally also known as perlemoen) is the largest of five endemic species found along the coast of South Africa. It is the only species with commercial value contributing to the exploitation of these animals. Due to declines of natural stocks, farming practices were established during the early 1990s in order to supply the international demand. To facilitate efficient breeding methods and ensure the sustainability of these commercial populations, genetic management, which can be accomplished with the use of molecular markers such as single nucleotide polymorphisms (SNPs), is necessary.
Single nucleotide polymorphisms have become the markers of choice in various applications in aquaculture genetics due to their abundance in genomes, reduction in developmental costs and increased throughput of genotyping assays. Identification of SNPs in non-model species such as H. midae can be achieved by in silico approaches. In silico methods are suitable for de novo SNP identification and are both cost- and time-efficient. It is based on the analysis of multiple alignments where mismatches may be reported as candidate SNPs. Various medium-throughput genotyping methods are available to confirm putative SNPs, but the ideal method depends on factors such as cost, accuracy and multiplexing capacity. Although SNP markers can have various applications within the aquaculture environment the focus for this current study was saturating the linkage map of H. midae with additional markers. This would assist in the identification of quantitative trait loci associated with economically important traits, which in turn could ultimately be employed for marker-assisted selection and improved molecular breeding programs.
In order to identify in silico SNPs, sequenced transcriptome data from a previous study was used and subjected to a series of criteria: minor allele frequency 10%, minimum coverage 80, 60 bp flanking regions. Selected loci were genotyped using a 192-plex assay with the Illumina GoldenGate genotyping assay with the VeraCode technology on the BeadXpress platform, in individuals from six mapping families. A conversion rate of 69.35% and global success rate of 76.34% was achieved. Polymorphic loci were subjected to linkage analysis using JoinMap® v.4.1 to create sex-average and sex-specific maps and to saturate the current linkage map for H. midae. Along with previously developed markers, 54% of the newly developed SNPs could be successfully incorporated into the linkage map of H. midae. A total of 18 linkage groups were observed with an average marker spacing of 6.9 cM and genome coverage of 79.1%.
Bioinformatic analyses and setting stringent criteria to identify SNPs from sequenced transcriptomic data proved to be an efficient way for SNP discovery in the current study. Genotyping of the identified loci with the GoldenGate genotyping assay demonstrated a high success rate; providing a genotyping assay adequate for species with little genomic information. The linkage map created in this study illustrated the utility of SNP markers in conjunction with microsatellite markers for linkage map construction and the adequate marker spacing obtained provides a step closer to quantitative trait loci mapping in this species.<br>AFRIKAANSE OPSOMMING: Haliotis midae (plaaslik ook bekend as perlemoen) is die grootste van vyf inheemse spesies wat langs die kus van Suid-Afrika aangetref word. Dit is die enigste spesie van kommersiële waarde wat bydraend is tot die uitbuiting van hierdie diere. As gevolg van die afname in hierdie natuurlike hulpbron het boerdery praktyke gedurende die vroeë 1990's ontstaan om in die internasionale aanvraag te voorsien. Ten einde doeltreffende teelmetodes te beoefen en die volhoubaarheid van hierdie kommersiële populasies te verseker is genetiese bestuur, wat bewerkstellig kan word deur die gebruik van molekulêre merkers soos enkel nukleotied polimorfismes (ENPs), baie belangrik.
Enkel nukleotied polimorfismes is gewilde merkers in verskeie toepassings in akwakultuur genetika as gevolg van hul oorvloed in genome, verlaagde ontwikkelingskoste en verhoogde deurset van ENP-genotiperingstoetse. Identifisering van ENPs in nie-model spesies soos H. midae kan uitgevoer word deur in siliko benaderings te gebruik wat geskik is vir de novo ENP identifisering en ook tyd- en koste-effektief is. Dit word gebaseer op die analise van veelvuldige inlynstellings waar nukleotiedes wat nie ooreenstem nie as kandidaat ENPs gerapporteer kan word. Om kandidaat ENPs te bevestig, kan verskeie medium-deurset genotiperingsmetodes uitgevoer word, maar die ideale metode word bepaal deur faktore soos koste, akkuraatheid en multipleks kapasiteit. Alhoewel ENP merkers in verskeie toepassing binne die akwakultuur omgewing gebruik kan word was die fokus van die huidige studie om die koppelingskaart van H. midae te versadig. Dit sal bydrae tot die identifisering van kwantitatiewe eienskap lokusse wat gekoppel kan word aan ekonomies belangrike eienskappe wat dan op die beurt weer vir merkerbemiddelde seleksie gebruik kan word en uiteindelik ten opsigte van die verbetering van molekulêre teelprogramme aangewend kan word.
Ten einde in siliko ENPs te identifiseer is transkriptoomdata van 'n vorige studie gebruik en onderwerp aan 'n reeks kriteria: geringste alleelfrekwensie 10%, minimum dekking 80, 60 bp gebiede weerskante van polimorfisme. Geïdentifiseerde lokus-genotipering is met behulp van 'n 192-pleks toets uitgevoer met die Illumina GoldenGate genotiperingstoets met die VeraCode tegnologie op die BeadXpress-platform, in individue afkomsitg vanaf ses karteringsfamilies. 'n Omskakelingskoers van 69.35% en 'n algehele sukseskoers van 76.34% is bereik. Polimorfiese lokusse is onderwerp aan koppelings-analise met behulp van JoinMap® v.4.1 om geslags-gemiddelde en geslags-spesifieke kaarte te skep asook om die kaart wat beskikbaar is vir H. midae te versadig. Saam met voorheen ontwikkelde merkers is 54% van die nuut ontwikkelde ENPs suksesvol opgeneem in die kaart van H. midae. 'n Totaal van 18 koppelingsgroepe is verkry met 'n gemiddelde merker-spasiëring van 6.9 cM en 'n genoomdekking van 79.1%.
Die gebruik van bioinformatiese analises en streng kriteria om ENPs vanaf transkriptoomdata te identifiseer blyk doeltreffend te wees in hierdie studie. Genotipering van die geïdentifiseerde lokusse met die GoldenGate genotiperingstoets dui op 'n hoë suksessyfer en verskaf 'n voldoende genotiperingstoets aan spesies met min genomiese inligting. Die koppelingskaart in hierdie studie het geïllustreer dat die ENP merkers suksesvol saam met mikrosatelliet merkers gebruik kan word vir koppelingskaart konstruksie en dat die voldoende merker-spasiëring verkry 'n stap nader aan kwantitatiewe eienskap lokus kartering in hierdie spesie bied.
32
Greenham, Jaimie Alexanda. "The identification and integration of transcripts mapping to human chromosome 16p12.2." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286479.
Full text
33
Hsu, Ssucheng Jeff 1964. "Physical and genetic mapping on mouse proximal chromosome 18." Diss., The University of Arizona, 1998. http://hdl.handle.net/10150/282617.
Full textAbstract:
An 8-Mb yeast artificial chromosome (YAC) contig has been constructed spanning 9 cM on mouse proximal chromosome 18. The contig consists of 49 YAC clones that cover roughly 15% of the chromosome. The map was assembled based on the presence or absence of 38 DNA microsatellites, from proximal DI8Mit109 through distal D18Mit68. The physical order of those microsatellite STSs have been assigned. The locations of 21 known genes including markers near twirler (Tw) and the recently isolated Niemann-Pick type C1 (Npc1), formerly designated as spm (sphingomyelinosis), are delimited on this physical map. Mouse Niemann-Pick disease type C1 (Npc1) is an autosomal recessive lipid storage disorder. We generated a high resolution linkage map in the 2.24 cM Npc1 critical region by typing 8 polymorphic markers in 2322 meioses. A minimal set of overlapping yeast artificial chromosome (YACs) has been assembled. The YAC 313-B-8 which covers this whole region, has been used to construct a cosmid library. Three cosmid contigs were built and one of them contained the Npc1 locus. Two (CA)n microsatellites were identified and characterized from the YAC derived cosmids. The most proximal cosmid contig overlaps with the markers near twirler gene (Tw). These identified YACs and cosmid clones will be an important resource for mouse geneticists wishing to further characterize the Npc1 gene and identify Tw and other genes in this region. The physical map and genetic linkage map were integrated to study the recombination frequencies in this particular mouse genome region. On average, it showed a recombination ratio of cM/Mb > 1.1. However, there is no recombination in the 300 Kb Npc1 critical region. We believe that the 703 bp deletion and 824 bp insertion of nonhomologous sequences in the mutation of Npc1 inhibits the occurrence of recombination in the region. These results confirm previous studies showing that recombination in mice is sensitive to heterozygous deletions or insertions of DNA fragments.
34
Hepple, Juli-ann. "An integrated linkage map of perlemoen (haliotis midae)." Thesis, Stellenbosch : University of Stellenbosch, 2010. http://hdl.handle.net/10019.1/5458.
Full textAbstract:
Thesis (MSc (Genetics))--University of Stellenbosch, 2010.<br>Includes bibliography.<br>Title page: Dept. of Genetics, Faculty of Science.<br>ENGLISH ABSTRACT: Haliotis midae, or Perlemoen, is the only cultured species of abalone in South Africa and is
under great international demand. This species is considered endangered, making
sustainable farming practises and law enforcement against poaching essential for
maintaining wild stocks. A limited amount of broodstock animals are provided to each farm
from which thousands of offspring are grown and exported. The prevention of inbreeding
and preservation of genetic diversity within farmed stocks is necessary for future
sustainable farming and production of genetically stable offspring. Further research into
the genetic dynamics of Perlemoen will provide the knowledge for advanced management
programs for optimal farming practises and essentially sustainable production. This study
focuses on genetic linkage map development with the intention of future identification of
markers associated with genes of economic importance, such as growth rate. Identification
of markers linked to genes responsible for such phenotypic traits will ultimately allow
farming practises to select naturally genetically superior animals for breeding, thereby
enhancing production.
For the construction of a genetic linkage map of H. midae, microsatellite markers were
developed using two strategies: FIASCO and screening of next generation sequence-bysynthesis
contig data. The FIASCO-derived markers were characterised by genotype
screening in 32 individuals from a full-sib family and analysed using Mendelian
segregation expectations. The Illumina-derived markers were characterised by genotype
screening in 32 individuals from wild populations and analysed against Hardy-Weinberg
expectations. Forty four microsatellite-family combinations were obtained from FIASCO of
which 28 provided informative genotype results (32% success). Twenty two markers were
developed from sequence-by-synthesis screening. Fourteen provided reliable genotypes
(37%) and six conformed to Hardy-Weinberg expectations.
These markers were used, in addition to 156 previously developed markers, to develop
sex-specific and sex-average linkage maps in two full-sib families consisting of
approximately 100 offspring each. One hundred and six polymorphic loci were used for
linkage analysis (LOD>3) in both families. The number of linkage groups obtained from
sex-specific maps ranged from 13-16. The average genome length ranged from 500 cM to
800 cM with an average marker spacing of 10 cM. The sex-average linkage map provided 18 linkage groups with an average genome length calculation of 1800 cM and average
marker spacing of approximately 13 cM.
The linkage maps created in this study are preliminary but provide a stepping stone
towards a high density map incorporating high throughput markers. This also provides a
base for QTL mapping studies, in which phenotypic traits of interest can be identified and
associated to specific locations in the H. midae genome for marker-assisted selection.<br>AFRIKAANSE OPSOMMING: Haliotis midae, ook bekend as Perlemoen, is in groot internasionale aanvraag en is ook
die enigste klipkous spesie waarmee in Suid Afrika geboer word. Hierdie spesie word as
bedreig beskou en daarom is volhoubare boerdery bedrywe en wetstoepassing teen
stroping noodsaaklik om wilde populasies te beskerm. Elke perlemoenplaas word met ‘n
beperkte aantal broeidiere verskaf, waarvan die nageslag dan gekweek en uitgevoer word.
Voorkoming van inteling en handhawing van genetiese diversiteit binne gekweekte
populasies is noodsaakllik vir toekomstige volhoubare kweking en produksie van ń
geneties stabiele nageslag. Verdere ondersoeke na die genetiese dinamika van
Perlemoen sal die nodige kennis verskaf om sodoende gevorderde bestuursprogramme te
ontwikkel, wat tot optimale kweek praktyke en effektiewe volhoubare produksie sal lei.
Hierdie studie fokus op die ontwikkeling van ‘n genetiese koppelingskaart met die
voorneme om toekomstige merkers te identifiseer wat met gene van ekonomiese belang,
soos byvoorbeeld groei tempo geassosieerd is. Identifisering van merkers wat vir sulke
fenotipiese eienskappe verantwoordelik is sal sodoende toelaat dat boerdery praktyke kan
selekteer vir diere vir verbeterde teling en produksie.
Mikrosatelliet merkers is ontwikkel om die genetiese koppelingskaart saam te stel. Die
volgende twee strategieë is benut: FIASCO en sifting van volgende generasie
volgordebepaling-deur-sintese “contig” data. Die FIASCO-afgeleide merkers is
gekarakteriseer deur genotipiese sifting in 32 individue van ‘n volsib familie en is deur
Mendeliese segregasie verwagtinge ge-analiseer. Die Illumina-afgeleide merkers is
gekarakteriseer deur genotipiese sifting in 32 individue van wilde populasies en is met
Hardy-Weinberg ewewig ge-analiseer. Vier en veertig mikrosatelliet-familie kombinasies is
deur FIASCO verky, waarvan 28 informatiewe genotipiese resultate gelewer het (32%
sukses). Twee en twintig merkers is vanaf volgordebepaling-deur-sintese sifting ontwikkel.
Veertien van hierdie merkers het betroubare genotipes (37%) verskaf en ses het aan
Hardy-Weinberg verwagtinge voldoen.
Hierbenewens is 156 voorheen ontwikkelde merkers gebruik om geslagspesifieke en
geslagsgemiddelde koppelingskaarte in twee volsib families saam te stel. Hierdie volsib
families het uit ń naslag van 100 elk bestaan. Een honderd en ses polimorfiese lokusse is
vir koppelingsanalise gebruik, waar ‘n LOD waarde groter as drie statisties betekenisvol
geag was. Die aantal koppelingsgroepe verkry van geslagspesifieke kaarte het tussen 13 en 16 gewissel. Die gemiddelde genoom lengte het van 500 cM tot 800 cM met ‘n
gemiddelde merker spasiëring van 10 cM. Die geslagsgemiddelde koppelingskaart het 18
koppelingsgroepe gehad met ‘n gemiddelde genoom lengte berekening van 1800 cM en
‘n gemiddelde merker spasiëring van ongeveer 13 cM.
Die koppelingskaarte wat in hierdie studie geskep is, is voorlopig en verskaf ‘n grondslag
vir die ontwikkeling van ‘n hoër digtheidskaart, wat hoë deurset merkers inkorporeer. Dit
verskaf ook ‘n basis vir kwantitatiewe kenmerk lokus karteringstudies. Hierdie
karteringstudies kan fenotipiese eienskappe van belang identifiseer en assosieer met
spesifieke posisies binne die H. midae genoom vir merker bemiddelde seleksie.
35
Heyns, I. C. "Mapping of chromosome arm 7DL of Triticum aestivum L." Thesis, Stellenbosch : University of Stellenbosch, 2005. http://hdl.handle.net/10019.1/1584.
Full textAbstract:
Thesis (MSc (Genetics))--University of Stellenbosch, 2005.<br>The Russian wheat aphid, Diuraphis noxia (Mordvilko), is a serious insect pest of wheat and
barley. It affects the quality and yield of grain by sucking plant sap from the newest growth
whilst toxic substances are injected that destroy plant tissue. The Russian wheat aphid also
acts as a vector of plant viruses. The cultivation of aphid resistant cultivars is the preferred
control strategy and nine resistance genes, designated Dn1 to Dn9, have been identified.
Another undesignated gene, Dnx, was found in the wheat accession PI220127. Mapping of the
resistance genes relative to known markers will improve their use in breeding programs.
The dominant RWA resistance gene, Dn5, was identified in the accession PI294994
and mapped to chromosome arm 7DL. However, recent reports have placed Dn5 on ...
36
Ryder-Cook, Allan Stuart. "Molecular genetic mapping of the mdx mutation and the mouse X chromosome." Thesis, University of Cambridge, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.306503.
Full text
37
Rebello, Manuel Teixeira. "Genetic and physical mapping of the short arm of human chromosome 9." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.267982.
Full text
38
Mancino, Franca. "Genetic linkage studies of the splotch neural tube defect gene on mouse chromosome 1." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56943.
Full textAbstract:
Genetic linkage studies of the spontaneously arising splotch allele, Sp, were conducted to identify closely linked molecular markers as a preliminary step for the isolation of the mutant gene. Restriction fragment length polymorphism and microsatellite size variation analyses were employed to follow the segregation of Sp in relation to eight or ten loci previously assigned to the proximal portion of mouse chromosome 1. Although results from an interspecific ((Sp/+ x Mus spretus)F1-Sp x C57BL/6J) backcross study were inconclusive, a panel of 125 intraspecific ((Sp/+ x CBA/J)F1-Sp x CBA/J) backcross mice positioned the Sp gene 0.8 $ pm$ 0.8 centiMorgans distal to the Vil/Des/Inha loci and detected no recombinant between the mutant allele and the murine paired box gene, Pax-3, positioning this locus within 2.9 centiMorgans of Sp (95% confidence limits). Concurrent research has identified alterations in Pax-3 in several Sp allelic variants; thus, this study provides additional genetic evidence in support of the candidacy of Pax-3 for the Sp locus. Effects of genetic background on the penetrance and expression of Sp were also observed.
39
Endrizzi, J. E., and R. Sherman. "Linkage Analysis of Telocentric 20L Chromosome and the Virescent-1 Mutant Gene." College of Agriculture, University of Arizona (Tucson, AZ), 1985. http://hdl.handle.net/10150/203922.
Full text
40
Groenewald, Johannes Zacharias. "Tagging and mapping of prominent structural genes on chromosome arm 7DL of common wheat." Thesis, Stellenbosch : Stellenbosch University, 2001. http://hdl.handle.net/10019.1/52474.
Full textAbstract:
Thesis (PhD (Agric)) -- Stellenbosch University, 2001.<br>ENGLISH ABSTRACT: Chromosome arm 7DL of common wheat carries genes for agronomically important traits such
as leaf rust, stem rust, Russian wheat aphid and eye spot resistance. Some of these genes occur
on introgressed foreign chromatin, which restricts their utility in breeding. The 7DL genetic
maps are poorly resolved, which seriously hampers attempts to manipulate the genes and
introgressed regions in breeding. This dissertation represents an attempt to improve our
knowledge of the relative map positions of three resistance genes that have significant potential
for use in local breeding programmes.
The leaf rust resistance gene, Lr19, is located on a Thinopyrum ponticum-derived translocation
which occupies a large part of the terminal end of 7DL. The translocation also carries genes for
less favourable traits such as yellow flour colour. Attempts have been made to reduce the size of
the translocation through allosyndetic pairing induction; the primary aims being to remove
deleterious genes and to minimise the amount of foreign chromatin associated with Lr19 so it can
be recombined with other useful 7DL genes. Twenty-nine 'Indis'-derived Lr 19 deletion mutants
were previously produced by gamma irradiation and a physical map was constructed. In this
study, the set of mutant lines were further analysed using 144 Sse8387I/Msei and 32 EcoRI/Msel
amplified fragment length polymorphism (AFLP) primer combinations. The previous physical
map, which was based on five restriction fragment length polymorphism (RFLP) markers and five
structural gene loci, was extended and now includes 95 novel AFLP markers (86 Sse8387I/Msei
and 9EcoRI!Msel markers), of which seven map close to Lr 19. Most of the deletions could be
ordered according to size and the improved map has already been used to characterise shortened
recombinant forms of the Lr 19 translocation. An unsuccessful attempt was made to convert one
of the seven markers closest to Lr 19 into a sequence-specific marker. However, an AFLP
marker located distally from Lr 19 was successfully converted into a sequence-specific marker in
collaboration with other researchers.
An attempt was also made to map and tag the Russian wheat aphid (RWA) resistance gene, Dn5.
A doubled haploid mapping population consisting of 94 lines was created and typed for Dn5,
four microsatellite loci and the endopeptidase locus, Ep-Dl. The Dn5 locus mapped 25.4 cM
and 28.6 cM distally from Xg.vm111 and Xg.vm437, respectively, but was not linked to Xgwm428, Xgwm3 7 or Ep-Dl. Tagging of Dn5 was attempted by screening twelve homozygous
resistant and seven homozygous susceptible F2 lines from a cross between 'Chinese Spring' and
'PI 294994' with 70 Sse8387IIi\1sei AFLP primer combinations. Only two potentially useful
polymorphisms (one in coupling and one in repulsion phase) were identified. Conversion of the
coupling phase marker to a sequence-specific marker was not successful.
The eyespot resistance gene, Pchl , was derived from Triticum ventricosum and is present in the
wheat VPM-1. Close association between Pchl and the endopeptidase Ep-Dlb allele has been
reported previously. Pchl/Ep-Dl was tagged by screening ten wheat genotypes (each
homozygous for the confirmed presence or absence of Pchl and/or Ep-Dl b) with 36
Sse83 87I/ Msei AFLP primer combinations. Three AFLP markers were closely associated with
Pchl I Ep-D 1, one of which was targeted for conversion into a sequence-specific marker. The
sequence-specific marker contained a microsatellite core motif and was found to be useful for
tagging Pchl!Ep-Dl. A genetic distance of 2 cM was calculated between the novel
microsatellite marker and Ep-Dl. The microsatellite marker was also polymorphic for the Lr 19
translocation and it was possible to map it between the Wsp-Dl and Sr25 loci.
In this dissertation, mapping and/or tagging of three important resistance genes were achieved.
Due to the fact that all markers used in these studies were not polymorphic between all of the
targeted regions, it was not possible to fully integrate the data obtained for the three regions.<br>AFRIKAANSE OPSOMMING: Chromosoom arm 7DL van broodkoring dra gene vir agronomies-belangrike kenrnerke soos
blaarroes, stamroes, Russiese koringluis en oogvlek weerstand. Sommige van hierdie gene kom
voor in blokke spesie-verhaalde chromatien wat hul bruikbaarheid in teling beperk. Die
genetiese kaarte van 7DL is swak ontwikkel en dit maak dit baie moeilik om hierdie gene en
spesie-verhaalde streke tydens teling te manipuleer. Hierdie proefskrif verteenwoordig 'n paging
om kennis van die relatiewe kaart liggings van drie weerstandsgene, met betekenisvolle
potensiaal in plaaslike tee! programme, te verbreed.
Die blaarroes weerstandsgeen, Lr 19, kom voor op 'n Thinopyrum ponticum-verhaalde
translokasie wat 'n groot terminale gedeelte van 7DL beslaan. Die translokasie dra ook gene vir
minder gewensde kenrnerke soos gee! meelkleur. Pogings is aangewend om die translokasie
deur homoeoloe parings-induksie te verkort. Die doe! was om nadelige gene te verplaas en die
hoeveelheid vreemde chromatien geassosieer met Lr 19 te minimiseer sodat dit met ander nuttige
gene op 7DL gerekombineer kan word. Nege-en-twintig 'Indis'-verhaalde Lr 19 delesie mutante
is vroeer met gamma bestraling geproduseer en gebruik om 'n fisiese kaart op te stel.
Teenswoordig is die stel mutante verder ontleed met behulp van 144 Sse8387I!Msei en 32
EcoRII Msel amplifikasie-fragment-lengte-polimorfisme (AFLP) inleier kombinasies. Die
bestaande fisiese kaart, wat gebaseer was op vyf restriksie-fragment-lengte-polimorfisme
(RFLP) merkers en vyf strukturele geen loki, is uitgebrei en sluit nou 95 unieke AFLP merkers
(86 Sse8387I/Msel en 9EcoRI/Msel merkers) in, waarvan sewe naby aan Lr19 karteer. Die
meeste van die delesies kon op grond van hulle grootte gegroepeer word en die verbeterde
fisiese kaart is alreeds gebruik om verkorte rekombinante vorms van die Lr 19 translokasie te
karakteriseer. 'n Onsuksesvolle paging is aangewend om een van die sewe merkers naaste aan
Lr 19 om te skakel na 'n volgorde-spesifieke merker. 'n AFLP merker wat distaal van Lr 19
karteer is egter wel suksesvol in samewerking met ander navorsers omgeskakel na 'n volgordespesifieke
merker.
'n Paging is ook aangewend om die Russiese koringluis (RKL) weerstandsgeen, Dn5, te karteer
en merkers gekoppel aan die geen te identifiseer. 'n Verdubbelde-haplo!ede karteringspopulasie
van 94 lyne is geskep en getipeer vir Dn5, vier mikrosatelliet loki en die endopeptidase lokus,
Ep-D1. Die Dn5 lokus karteer 25.4 cM en 28.6 cM distaal van Xgwml11 en Xgwm437, respektiewelik, maar was me gekoppel met Xgwm428, Xgwm37 of Ep-D1 me. Twaalf
homosigoties weerstandbiedende en sewe homosigoties vatbare F2 lyne uit die kruising:
'Chinese Spring' I 'PI 294994' is met 70 Sse8387VMsel AFLP inleier kombinasies getoets in 'n
poging om merkers vir Dn5 te identifiseer. Slegs twee moontlik bruikbare polimorfismes (een
in koppelings- en een in repulsie fase ), is ge'identifiseer. Omskakeling van die koppelingsfase
merker na 'n volgorde-spesifieke merker was onsuksesvol.
Die oogvlek weerstandsgeen, Pch1, is uit Triticum ventricosum oorgedra en kom voor in die
koringlyn, VPM-1. Noue koppeling van Pch1 en die endopeptidase alleel, Ep-D1 b, is vantevore
gerapporteer. Merkers is vir P chl I Ep-D 1 gevind deur tien koring genoti pes ( elkeen
homosigoties vir die bevestigde teenwoordigheid of afwesigheid van Pch1 en/of Ep-D1 b) te
toets met 36 Sse83871/kfsel AFLP inleier kombinasies. Drie AFLP merkers is gevind wat nou
koppel met Pchl!Ep-D1 , waarvan een gekies is vir omskakeling na 'n volgorde-spesifieke
merker. Die volgorde-spesifieke merker het 'n mikrosatelliet kernmotief bevat en was nuttig as
merker vir Pch1/Ep-D1. 'n Genetiese afstand van 2 cM is tussen die unieke mikrosatelliet
merker en Ep-D1 bereken. Die mikrosatelliet merker was ook polimorfies vir die Lr 19
translokasie en dit is tussen die Wsp-D1 en Sr25 loki gekarteer.
Kartering en/of identifikasie van merkers vir drie belangrike weerstandsgene was suksesvol in
hierdie studie. Omdat al die merkers wat gebruik is, nie polimorf was tussen al die streke van
belang nie, was dit nie moontlik om die data vir elk van die drie streke ten volle te integreer nie.
41
Nie, Ying. "Positional mapping for blood pressure loci on rat chromosome 9." University of Toledo Health Science Campus / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=mco1434993505.
Full text
42
Lowe, Yvonne. "Linkage mapping of a familial MeÌnieÌ€re disease locus to a human chromosome 14q21.2-q21.3." Thesis, University of Glasgow, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.443282.
Full text
43
Clark, Deborah Jane. "Molecular mapping of recurrent chromosome 2 deletions in murine radiation-induced acute myeloid leukaemia." Thesis, University of Reading, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360062.
Full text
44
Gill, Clare Alexandra. "Use of an ovine bacterial artificial chromosome library for the study of Bovidae genomes." Title page, table of contents and abstract only, 1999. http://web4.library.adelaide.edu.au/theses/09ANP/09anpg475.pdf.
Full text
45
Sadeghzadeh, Behzad. "Mapping of chromosome regions associated with seed zinc accumulation in barley." University of Western Australia. School of Earth and Geographical Sciences, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0204.
Full textAbstract:
[Truncated abstract] Zinc deficiency in crops is the most widespread micronutrient deficiency, with about 50% of the cereal-growing areas worldwide containing low levels of plant-available Zn. Zinc plays multiple key roles in different metabolic and physiological processes; its deficiency in crops reduces not only grain yield, but also the nutritional quality of grains. Insufficient micronutrient intake, particularly Zn and Fe, afflicts over 3 billion people in the world, mainly in developing countries. Increasing the amount of Zn in food crops can contribute to improving the Zn status of people. Furthermore, Zn-dense seeds have agronomic benefits, resulting in greater seedling vigour, bigger root system and higher crop yield when sowed to soils with low plant-available Zn. Enhancing nutrient content and nutritional quality of crops for human nutrition is a global challenge currently, but it was mostly ignored during the breeding process in the past. There is a significant genotypic variation for seed Zn accumulation in several crops (including barley) which could be exploited in the breeding programs to produce genotypes with higher seed Zn concentration and content. However, the progress in Zn efficiency until now has mainly relied on conventional plant breeding approaches that have had limited success. Therefore, reliable alternative methods are required. Enhancing mineral nutrition through plant biotechnology may be a sustainable and beneficial approach in developing Zn-dense seeds in the staple crops. ... This DNA band was sequenced and converted into a simple sequence-specific PCR-based marker, which was designated as SZnR1 (seed Zn-regulator1). The developed marker is very easy to score, is inexpensive to run and amenable for a large number of plant samples. The successful development of SZnR1 molecular marker linked to chromosome region associated with seed Zn concentration and content using MFLP in this study illustrates the advantage of this technique over some other DNA fingerprinting methods used for identification of molecular markers for marker-assisted selection (MAS). In conclusion, the greater Zn efficiency of Sahara over Clipper under sufficient Zn supply may be attributed to its higher uptake of Zn. It appears that soil-based pot experiments under controlled condition may offer potential improvements over field experiments in screening for seed Zn accumulation. Shoot and seed Zn concentration and content can be used to diagnose the Zn statues of barley genotypes, and may be a useful selection criterion for Zn efficiency in large populations like doubled-haploid populations aimed at developing molecular markers for Zn efficiency. Identified QTLs influencing seed Zn concentration were repeatable in the field and glasshouse conditions, suggesting their robustness across environments as well as their value in marker-assisted selection. The developed PCR-based marker SZnR1 and other molecular markers associated with the QTLs on the short and long arms of chromosome 2H have the potential to be used for marker-assisted selection in breeding for Zn-dense seed in barley.
46
Lee, Yiu-fai. "Analysis for segmental sharing and linkage disequilibrium a genomewide association study on myopia /." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B43912217.
Full text
47
Hornigold, James Nicholls Andrew. "Physical mapping using Hinfl cosmid fingerprinting : its application to the human Y chromosome and to 9q34." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300167.
Full text
48
Starr, Terence. "Molecular analysis of the DPY-14 region of chromosome I in Caenorhabditis elegans." Thesis, University of British Columbia, 1989. http://hdl.handle.net/2429/30852.
Full textAbstract:
This thesis describes the alignment of cloned DNA with the genetic map, and the identification of coding elements within the aligned DNA. The region of study was the dpy-5 unc-29 interval from chromosome I of the nematode Caenorhabditis elegans, with an emphasis on the region surrounding the gene dpy-14. The objectives of this thesis were: 1) to align the physical and genetic maps .of the region; 2) to identify and characterize the coding elements in the vicinity of dpy-14; and 3) to cross-hybridize the identified C. elegans coding elements to mammalian DNA in an attempt to identify evolutionarily conserved genes.
Six polymorphisms from the dpy-5 unc-29 interval were mapped with respect to the free duplication sDp2. The polymorphisms hP5, sPl, and hP9 were found to.be inside the region spanned by sDp2 while the polymorphisms hP4, hP6, and hP7 were found to be outside this interval. In addition, these six polymorphisms were mapped with respect to visible markers from the dpy-5 unc-29 interval. These analyses demonstrated the genetic order to be dpy-5, hP5, unc-37, (dpy-14, sPl), hP9, unc-13, hP7, (hP4, hP6), unc-29.
Lambda phage containing the hP5, sPl, and hP6 sites identified and anchored cosmid contigs to the genetic map. The interval from the left of hP5 to the right of unc-13 is contained in a single contig of approximately 1400 Kb. The amount of DNA in Kb across the hP5 and unc-13 interval was compared to the genetic distance in map units. The DNA per map unit value was found to vary in this interval with the greatest value found between hP9 and unc-13.
Seven cosmids representing 173 Kb of N2 genomic DNA near the gene dpy-14 were isolated. Using cross-species hybridization to C. briggsae DNA ten conserved regions were identified within these seven cosmids. The ten conserved fragments were used to identify seven cDNAs, six of which also identified RNAs on Northern blots. The relative abundance of the isolated cDNAs varied 250 fold with the most abundant having a level similar to that found for actin.
The first comprehensive survey of mammalian homologies in a contiguous set of ten coding regions found three coding elements to be. conserved. One was demonstrated to be the small nuclear RNA gene U1. Another shared sequence similarities with the gene S-adenosyl-L-homocysteine hydrolase. No detectable homologies were identified with the third.
A formaldehyde-induced mutation that failed to complement the genes unc-37, unc-87, dpy-14, let-83 and let-86 was isolated. This mutation appeared to be the result of a DNA rearrangement which had one breakpoint within the cosmid C14A12.
Using the conserved elements identified in this thesis together with the rearrangements and mapped genes from the region, a detailed physical and genetic map in the vicinity of dpy-14 was constructed.<br>Medicine, Faculty of<br>Medical Genetics, Department of<br>Graduate
49
Votruba, Marcela. "A clinical and molecular genetic study of dominant optic atrophy mapping to chromosome 3Q28-qter." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313485.
Full text
50
Richard, Marilyn. "Fine-mapping of a quantitative trait locus on chromosome 20 in Holstein cattle." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=80863.
Full textAbstract:
The growth hormone receptor gene (GHR) has been previously documented to be a good candidate gene for detection of a quantitative trait locus (QTL) which influences milk production in Holstein cattle. In this study, the promoter region of the GHR gene and microsatellite markers AGAL29 and BM5004 were studied. Their effects on milk yield (MY), fat yield (FY), protein yield (PY), fat percentage (FP) and protein percentage (PP) were examined. DNA was isolated from 1746 used by the artificial insemination (AI) industry representing 26 half-sibling families. Three polymorphisms in the GHR gene were genotyped (GHRAlu, GHRAcc and GHR Stu) along with both microsatellites. The markers were analyzed in a cross-family analysis. The model included a population mean, a fixed grandsire effect, a fixed allele effect and a random residual error. The data was also analyzed using a nested model in a granddaughter design to investigate a possible consistency in the allelic effect in individual families. Lastly, the data was analyzed using the haplotypes of GHRAlu and GHR Acc, using the same model as the cross-family analysis. It included an analysis of a fixed haplotype effect instead of a fixed allele effect. (Abstract shortened by UMI.)