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Relevant bibliographies by topics / Additional chromosomes

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Academic literature on the topic 'Additional chromosomes'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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Journal articles on the topic "Additional chromosomes"

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Tez, Coşkun, Akalin Hilal, and Münife Erkekkardeş. "Additional karyological dataon goitered gazelle, Gazella subgutturosa, from Turkey." Archives of Biological Sciences 61, no. 1 (2009): 45–48. http://dx.doi.org/10.2298/abs0901045t.

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The chromosomes of goitered gazelle, Gazella subgutturosa, in Turkey were karyotyped on the basis of two female specimens. Bothspecimens have 2n = 30 with NF = 60 and NFa = 56. All chromosomes are biarmed. The two female specimens of Turkish G. subgutturosa have a smaller diploid chromosome number compared to those of two males previously reported. This chromosomal variation in Turkish G. subgutturosa may be important for its conservation biology.

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Tamang, Sonam. "Principles and Applications of Fetal Chromosome Number and Structure Analysis." Sriwijaya Journal of Obstetrics and Gynecology 1, no. 2 (2023): 39–43. http://dx.doi.org/10.59345/sjog.v1i2.83.

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A crucial diagnostic technique employed in prenatal diagnosis is examining the quantity and arrangement of fetal chromosomes. The fundamental premise of this study is to determine the chromosomal count in the fetal cells and detect any genetic or chromosomal abnormalities that may be present. A total of 46 chromosomes are typically present in the human body, organized into 23 pairs. These pairs include one pair of sex chromosomes and 22 pairs of autosomal chromosomes. This study enables the identification of chromosomal abnormalities, such as trisomy (the presence of an additional chromosome)

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Kulbachuk, N. V., S. V. Matviiuk, S. V. Bilokon, and O. L. Sechnyak. "The kariotype variability in children with Down syndrome from the Odesa region." Zaporozhye Medical Journal 23, no. 1 (2021): 77–82. http://dx.doi.org/10.14739/2310-1210.2021.1.224888.

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The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was

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Iannucci, Alessio, Marie Altmanová, Claudio Ciofi, et al. "Isolating Chromosomes of the Komodo Dragon: New Tools for Comparative Mapping and Sequence Assembly." Cytogenetic and Genome Research 157, no. 1-2 (2019): 123–31. http://dx.doi.org/10.1159/000496171.

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We developed new tools to build a high-quality chromosomal map of the Komodo dragon (Varanus komodoensis) available for cross-species phylogenomic analyses. First, we isolated chromosomes by flow sorting and determined the chromosome content of each flow karyotype peak by FISH. We then isolated additional Komodo dragon chromosomes by microdissection and amplified chromosome-specific DNA pools. The chromosome-specific DNA pools can be sequenced, assembled, and mapped by next-generation sequencing technology. The chromosome-specific paint probes can be used to investigate karyotype evolution thr

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Spies, J. J., E. Van der Merwe, H. Du Plessis, and E. J. L. Saayman. "Basic chromosome numbers and polyploid levels in some South African and Australian grasses (Poaceae)." Bothalia 21, no. 2 (1991): 163–70. http://dx.doi.org/10.4102/abc.v21i2.882.

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Chromosome numbers of 46 specimens of grasses, involving 24 taxa from South Africa and Australia, have been determined during the present study. For the first time chromosome numbers are given for Eragrostis sarmentosa (Thunb.) Trin. (n = 20). Panicum aequinerve Nees (n = 18), Digitaria argyrograpta (Nees) Stapf (n = 9) and D. maitlandii Stapf C.E. Hubb. (n = 9). Additional polyploid levels are described for Diplachne fusca (L.) Beauv. ex Roem. Schult. (n = 10) and Digitaria diagonalis (Nees) Stapf var. diagonalis (n = 9).B-chromosomes were observed in several different specimens. The presence

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Li, Jianyong, Bing Xiao, Lijuan Chen, Yu Zhu, Wei Xu, and Hairong Qiu. "Whole Chromosome Painting and Multiplex Fluorescence In Situ Hybridization in Detecting Complex Chromosomal Aberrations in Myelodysplastic Syndromes." Blood 108, no. 11 (2006): 4853. http://dx.doi.org/10.1182/blood.v108.11.4853.4853.

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Abstract Objective To explore the value of the technique of whole chromosome painting (WCP) and multiplex fluorescence in situ hybridization (M-FISH) in the detection of complex chromosomal aberrations (CCAs) of myelodysplastic syndromes (MDS). Methods M-FISH was used in seven MDS patients with CCAs detected by R-banding technique to refine CCAs, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH. Results In all cases, M-FISH confirmed all results of R-b

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Brandler, O. V., and A. V. Blekhman. "Karyotype and molecular genetic differentiation of a 24-chromosomal form of the gray hamster <i>Nothocricetulus migratorius</i> from the Tien Shan." Genetika 60, no. 7 (2024): 107–11. http://dx.doi.org/10.31857/s0016675824070102.

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The widespread Palaearctic rodent species gray hamster Nothocricetulus migratorius has a karyotype with a stable number of chromosomes 2n = 22 throughout the entire range of its habitat. We found gray hamsters with diploid number of chromosomes 2n = 24 locally distributed in the Qurama Ridge of the Tyan Shan. A new karyotype and analysis of G- and NORs-bands of differentially stained chromosome sets were described for the first time. The described karyotype differs from the 22-chromosomal karyotype of gray hamsters by the Y-chromosome morphology and the presence of an additional pair of hetero

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Yen, Jui-Hung, Shao-Yin Chu, Yann-Jang Chen, et al. "A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions." Diagnostics 12, no. 8 (2022): 1900. http://dx.doi.org/10.3390/diagnostics12081900.

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Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs) are structural alterations involving three or more chromosomal breakpoints between at least two chromosomes. Here, we present a 3-year-old boy exhibiting multiple congenital malformations and developmental delay. The cytogenetic analysis found a highly complex CCR inherited from the mother involving four chromosomes and five breakpoints due to

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Malleret, Matías, Carolina Labaroni, Gabriela Verónica García, Juan Ferro, Dardo Andrea Marti, and Cecilia Lanzone. "Chromosomal variation in Argentine populations of Akodon montensis Thomas, 1913 (Rodentia, Cricetidae, Sigmodontinae)." Comparative Cytogenetics 10, no. (1) (2016): 129–40. https://doi.org/10.3897/CompCytogen.v10i1.6420.

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The genus Akodon Meyen, 1833 is one of the most species-rich among sigmodontine rodents and has great chromosome variability. Akodon montensis has a relatively broad distribution in South America, and Argentine populations are located in the southernmost region of its range. Brazilian populations have important chromosomal variability, but cytogenetic data from Argentina are scarce. We performed a chromosome characterization of natural populations of A. montensis using conventional staining, C-banding, Ag-NORs and base-specific fluorochromes. A total of 31 specimens from five localities of Mis

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Favarato, Ramon M., Leila Braga Ribeiro, Rafaela P. Ota, Celeste M. Nakayama, and Eliana Feldberg. "Cytogenetic Characterization of Two Metynnis Species (Characiformes, Serrasalmidae) Reveals B Chromosomes Restricted to the Females." Cytogenetic and Genome Research 158, no. 1 (2019): 38–45. http://dx.doi.org/10.1159/000499954.

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Karyotypes and chromosomal characteristics with focus on B chromosomes of 2 species of the serrasalmid genus Metynnis, namely M. lippincottianus and M. maculatus, were examined using conventional (C-banding) and molecular (FISH mapping of minor and major rDNAs and Rex1, Rex3, and Rex6 retrotransposable elements) protocols. Both species possessed a diploid chromosome number of 2n = 62 and karyotypes composed of 32 metacentric + 28 submetacentric + 2 subtelocentric and 32 metacentric + 26 submetacentric + 4 subtelocentric, respectively; one small B element was found in the female genome of M. li

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Dissertations / Theses on the topic "Additional chromosomes"

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Acharya, Bhupendra. "Evaluation of Soybean Germplasm for Additional Sources of Resistance and Characterization of Resistance towards Fusarium graminearum." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1406200265.

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Lin, Rong Fang, and 林榮芳. "Production and identification of alien chromosome addition lines of nicotiana plumbaginifolia." Thesis, 1995. http://ndltd.ncl.edu.tw/handle/19375137034097365105.

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博士<br>國立臺灣大學<br>植物學研究所<br>83<br>A triploid hybrid (2n=28) was produced from somatic hybridization between haploid Nicotiana plumbaginifolia (n=10) and diploid N. alata (2n=18). The somatic hybrid was subsequently crossed to di- ploid N. alata. Among a total of 886 plants obtained from the backcross, 41 contained 2n=19 chromosomes. Three of these plants lost one chromosome during maintenance in culture and one was found later to be a trisomi

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Chen, Shih-Kuang, and 陳士光. "Assingment of DNA markers to Nicotiana sylvestris chromosome using telomonosomic alien addition lines." Thesis, 1998. http://ndltd.ncl.edu.tw/handle/46097694366440964892.

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Tek, Ahmet Latif. "Isolation and molecular cytogenetic characterization of potato-solanum brevidens chromosome addition and translocation lines." 1999. http://catalog.hathitrust.org/api/volumes/oclc/42005474.html.

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Thesis (M.S.)--University of Wisconsin--Madison, 1999.<br>Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 40-44).

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Liu, Shiang-Chun, and 劉香君. "Karyotype of Nicotiana sylvestris constructed by genomic in situ hybridization with the aid of alien chromosome addition lines." Thesis, 2002. http://ndltd.ncl.edu.tw/handle/98574416284694512912.

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碩士<br>國立臺灣大學<br>植物學研究所<br>90<br>Nicotiana sylvestris (2n=24) is the maternal parent of cultivated tobacco (N. tabacum). The lengths and arm ratios of N. sylvestris chromosomes are similar, and there are no obvious cytological markers on the chromosomes. Therefore, it is difficult to identify the individual chromosomes by traditional cytogenetic techniques. In this study, we hybridized somatic metaphase chromosomes of N. sylvestris and N. plumbaginifolia-sylvestris monosomic addition lines using genomic DNA of N. sylvestris as a probe and unlabeled genomic DNA of N. plumbaginifolia as a block.

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Books on the topic "Additional chromosomes"

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Brennfleck, Shannon Joyce, ed. Learning disabilities sourcebook: Basic consumer health information about dyslexia, auditory and visual processing disorders, communication disorders, dyscalculia, dysgraphia, and other conditions that impede learning, including attention deficit/hyperactivity disorder, autism spectrum disorders, hearing and visual impairments, chromosome-based disorders, and brain injury; along with facts about brain function, assessment, therapy and remediation, accommodations, assistive technology, legal protections, and tips about family life, school transitions, and employment strategies, a glossary of related terms, and directories of additional resources. 3rd ed. Omnigraphics, 2009.

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McKinlay Gardner, R. J., and David J. Amor. Autosomal Ring Chromosomes. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0011.

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Ring chromosomes are uncommon. The typical physical phenotype comprises major dysmorphogenesis and intellectual deficiency, and reproduction is not usually a relevant issue. A ring chromosome is formed due to an end-to-end fusion of chromosome tips. Almost always, the end result is an imbalance and significant phenotypic abnormality. Rarely, however, this is not the case. In this chapter, genetic risks for ring carriers for whom procreation is a realistic likelihood are considered. This chapter distinguishes between those with a normal 46 chromosome count, one being a ring, and those with a 47

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Ping Yu, Shao Song Zhang, Chao Dong, Hong Mei Luo, and Holger Budahn. Enhanced expression of radish-specific proteins in a disomic rapeseed-radish chromosome addition line resistant to root-knot nematodes. Verlag Eugen Ulmer, 2018. http://dx.doi.org/10.1399/jfk.2018.07.01.

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Choi, Ellen Y. Tonsillectomy and Adenoidectomy in the Pediatric Patient with Down Syndrome. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0019.

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Down syndrome or Trisomy 21 is the most common chromosomal abnormality, affecting some 250,000 individuals, with life expectancy reaching into the fifth decade of life for some. It has characteristic physical features, with associated congenital conditions affecting almost every organ system. While all abnormalities must be taken into account during the preoperative evaluation, conditions of particular significance to the anesthesia provider include obstructive sleep apnea, congenital heart disease, and atlantoaxial instability. This chapter presents for discussion a case of a pediatric patien

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Clark, Robin D., and Cynthia J. Curry. Genetic Consultations in the Newborn. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.001.0001.

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This book was written to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management. The goal was to make the evaluation of common neonatal anomalies and genetic syndromes accessible and understandable. In addition, the book may serve as an initial guide for practitioners in areas in which clinical genetic expertise is not readily available. As the book was being written, the testing paradigm shifted to a genomic approach: Chromosome analysis gave way to microarrays, and single gene testing was largely replaced by gene panels and e

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Foster, Brogan, and Paul A. Brogan. Systemic diseases. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198738756.003.0004.

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This chapter covers the full spectrum of systemic diseases in paediatric rheumatology including: the systemic vasculitides (HSP, Kawasaki disease, PAN, ANCA-associated vasculitis, Takayasu arteritis, Behçet's disease, cerebral vasculitis, and many others); juvenile SLE; scleroderma; JDM; overlap syndromes; antiphospholipid syndrome; sarcoid; and paediatric uveitis. In addition, it provides updated descriptions and treatment approaches for autoinflammatory diseases, including recently described diseases such as DADA, SAVI, CANDLE, and many others. Other systemic diseases described in detail inc

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Peñagarikano, Olga, and Daniel H. Geschwind. CNTNAP2 and Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0016.

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Although autism was described in the early 1940s as a disorder of affective contact (Kanner, 1943), it was not classified as a neurodevelopmental disorder with a biological basis until the early 1980s, when studies reported its high heritability (Folstein & Rutter, 1977; Ritvo et al., 1985) and co-occurrence with chromosomal abnormalities (Gillberg & Wahlstrom, 1985; Wahlström et al., 1986). Today, autism is considered a heterogeneous neurodevelopmental syndrome and therefore termed autism spectrum disorder (ASD), characterized by variable deficits in social behavior and language, rest

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Dowell, David R. NextGen Genealogy. ABC-CLIO, LLC, 2014. http://dx.doi.org/10.5040/9798400691492.

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DNA testing can serve as a powerful tool that unlocks the hidden information within our bodies for family history research. This book explains how genetic genealogy works and answers the questions of genealogists and individuals seeking information on their family trees. Now that DNA testing for genealogical purposes has existed for nearly a decade and a half—and been refined and improved during that time—it has established its value among family history researchers. It is now becoming accepted as another tool in the kit of well-rounded genealogists. This book covers this fast-growing applicat

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Learning disabilities sourcebook: Basic consumer health information about dyslexia, dyscalculia, dysgraphia, speech and communication disorders, auditory and visual processing disorders, and other conditions that make learning difficult, including attention deficit hyperactivity disorder, down syndrome and other chromosomal disorders, fetal alcohol spectrum disorders, hearing and visual impairment, autism and other pervasive developmental disorders, and traumatic brain Injury; along with facts about diagnosing learning disabilities, early intervention, the special education process, legal protections, assistive technology, and accommodations, and guidelines for life-stage transitions, suggestions for coping with daily challenges, a glossary of related terms, and a directory of additional resources. 4th ed. Omnigraphics, 2012.

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Book chapters on the topic "Additional chromosomes"

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Liehr, Thomas. "Small Supernumerary Marker Chromosomes Additionally to Other Chromosomal Rearrangements." In Small Supernumerary Marker Chromosomes (sSMC). Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-20766-2_9.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Additional Marker Chromosome 15." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8982.

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Feldman, Moshe, and Avraham A. Levy. "Evolution of the Allopolyploid Species of the Sub-tribe Triticineae." In Wheat Evolution and Domestication. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-30175-9_12.

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AbstractThe chapter describes the mode, time, and place of origin of the allopolyploids of the genus Triticum. In addition, genetic and epigenetic changes due to allopolyploidization that brought about to cytological diploidization (exclusive homologous chromosome pairing), are discussed within the chapter. The suppression of pairing between homoeologous chromosomes in hexaploid wheat Triticum aestivum by the Ph1 gene, its discovery, the induction of mutations in this gene, its isolation, the theories concerning its mode of its action, and its origin, are discussed in the chapter. Other pairin

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Watanabe, N., and S. Komori. "Effects of Alien Chromosome Additions on Photosynthesis in Wheat." In Wheat in a Global Environment. Springer Netherlands, 2001. http://dx.doi.org/10.1007/978-94-017-3674-9_67.

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Kynast, Ralf G., and Oscar Riera-Lizarazu. "Development and Use of Oat–Maize Chromosome Additions and Radiation Hybrids." In Methods in Molecular Biology. Humana Press, 2010. http://dx.doi.org/10.1007/978-1-61737-957-4_15.

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Larkin, P. J., L. H. Spindler, and P. M. Banks. "Cell Culture of Alien Chromosome Addition Lines to Induce Somatic Recombination and Gene Introgression." In Progress in Plant Cellular and Molecular Biology. Springer Netherlands, 1990. http://dx.doi.org/10.1007/978-94-009-2103-0_24.

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Schoch, C., T. Büchner, M. Freund, et al. "Fifty-nine Cases of Acute Myeloid Leukemia with Inversion inv(16) (p13q22): Do Additional Chromosomal Aberrations Influence Prognosis?" In Acute Leukemias VI. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-642-60377-8_2.

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Thomas, Alison. "Chromosome Mutations." In Thrive in Genetics. Oxford University Press, 2013. http://dx.doi.org/10.1093/hesc/9780199694624.003.0012.

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This chapter discusses chromosome mutations, during which one or a few chromosomes may be lost or gained (aneuploidy). Common aneuploid conditions include monosomy and trisomy; nullisomy and tetrasomy also occur. The addition of whole sets of chromosomes produces polyploid cells. Meanwhile, segments of individual chromosomes can be deleted, duplicated, become incorporated in other chromosomes, or inverted. Chromosome mutations often arise through errors during meiosis. In turn, chromosomal mutations frequently disrupt the process of meiosis, resulting in unbalanced gametes. The chapter then lo

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Stern, Herbert. "The Process of Meiosis." In Cell And Molecular Biology Of The Testis. Oxford University PressNew York, NY, 1993. http://dx.doi.org/10.1093/oso/9780195062694.003.0013.

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Abstract An obvious and indispensable requirement for sexual reproduction is that the gametes involved, sperm or egg, contain a haploid number of chromosomes. This apparently simple requirement may be contrasted with the fact that mechanisms involved in fulfilling the requirement display considerable complexity. The latter can only be accounted for by features of chromosome behavior that are frequently disregarded in textbook descriptions of the process. From the standpoint of human reproduction it must be emphasized that the target haploid number must represent a fully balanced chromosome com

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Czepulkowski, B., and B. Gibbons. "Cytogenetics in acute lymphoblastic leukaemia." In Human Cytogenetics: malignancy and acquired Abnormalities. Oxford University PressOxford, 2001. http://dx.doi.org/10.1093/oso/9780199638420.003.0003.

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Abstract In the past, cytogrnctic analysis of ALL has been lmnpcrcd by the difficulty in obtaining good quality chromo omes for c1.naly i . Poor spreading, fuzzy chromosomes and indistinct bands me, mt that only about 50% of cases analysed were found to have an abnormal clone, or because of metc1phases that could not be analysed, a number of case were cla,sified as failures. Improvements in cytogcnetic techniques have increased the success rate and abnormality rates observed in ALL. and also given an insight into the importance of cytogenetic abnorm. ilities in the pathophysiology c1nd prognos

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Conference papers on the topic "Additional chromosomes"

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Alekseeva, S. S., Yu V. Andreeva, I. E. Wasserlauf, A. K. Sibataev, and V. N. Stegniy. "SPECIES SPECIFICITY OF HETEROCHROMATIN BLOCK DISTRIBUTION AND rDNA LOCALIZATION IN MITOTIC CHROMOSOMES OF MOSQUITOES SPECIES AEDES EXCRUCIANS, AE. BEHNINGI AND AE. PUNCTOR." In V International Scientific Conference CONCEPTUAL AND APPLIED ASPECTS OF INVERTEBRATE SCIENTIFIC RESEARCH AND BIOLOGICAL EDUCATION. Tomsk State University Press, 2020. http://dx.doi.org/10.17223/978-5-94621-931-0-2020-2.

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A karyotypic analysis of three mosquito species Aedes excrucians, Ae. behningi and Ae. punctor (Diptera: Culicidae). Differences in the lengths of chromosomes, the distribution of C- and DAPI blocks of heterochromatin, and the localization of rDNA genes on chromosomes were revealed. Aedes excrucians has the largest chromosome length among the three species represented. Ae. punctor differs in the localization of rDNA on the second chromosome, while in Aedes excrucians and Ae. behningi, rDNA genes are located on chromosome 1. All three species have different C-banding and species-specific locali

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Zaccaron, Alex. "Impact of genomic structural variations on virulence of the tomato pathogen Cladosporium fulvum." In IS-MPMI Congress. IS-MPMI, 2023. http://dx.doi.org/10.1094/ismpmi-2023-1.

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Cladosporium fulvum causes tomato leaf mold and has been extensively used in the past as a model species to study plant-microbe interactions. Although the first chromosome-scale reference genome of the fungus was released in 2022, still little is known about how its genome architecture and structural variations (SVs) thereof impact its virulence. In this study, we used PacBio HiFi to sequence the genomes of four additional C. fulvum isolates and further assembled them at chromosome level. Comparative genome analyses revealed high chromosomal synteny among the five isolates, and a set of 13 cor

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Wolff, BM, YG Oliveira, VT Almeida, et al. "CYTOGENOMIC DELINEATION OF A RARE 15Q TRIPLICATION CASE." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.5930.

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Objective: The proximal long arm of human chromosome 15 is frequently involved in molecular rearrangements including duplications, deletions, triplications, translocations, and inversions, as well as in the formation of supernumerary marker chromosomes. It happens due to the presence of low copy repeats (LCR), which mediate non-allelic homologous recombination (NAHR), resulting in these genomic rearrangements. In this study, we made a molecular characterization of the patient and his family. Method: We report a 14-year-old boy, the product of healthy and nonconsaguineous couple who has an intr

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"EVALUATION OF THE ASSESSMENT DOSE WITH BIODOSIMETRY METHODS, APPLICABLE IN BULGARIA. USE OF DICENTRIC CHROMOSOMAL ASSAY (DCA) AND CYTOKINESIS-BLOCK MICRONUCLEUS ASSAY." In RAD Conference. RAD Centre, Niš, Serbia, 2024. https://doi.org/10.21175/radproc.2024.08.

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Radiation biodosimetry deals with the measurement of a biological response that serves as a surrogate for estimating the absorbed radiation dose in exposed humans. The biodosimetry methods include cytogenetic methods such as dicentric chromosomal assay (DCA), cytokinesis-block micronucleus assay (CBMN), Fluorescence in-situ hybridization (FISH) assay, Premature chromosome condensation (PCC), etc. All of them score the marking damages such dicentric chromosomes or centric rings to calculate the absorbed dose of ionizing radiation. As a part of the European union, Bulgarian radiobiology laborato

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Rytenkova, O. I., and A. N. Volkov. "BIOCHEMICAL PARAMETERS OF BLOOD IN PREGNANT WOMEN NORMALLY AND WITH CHROMOSOMAL PATHOLOGY OF THE FETUS." In I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/conferencearticle_63edabf15da447.93685177.

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As part of the prenatal screening of the first trimester of pregnancy, biochemical parameters of blood were analyzed in 1214 women. The level of serum markers β-hCG and PAPP-A in pregnant women are sensitive indicators of chromosomal pathology of the fetus. With trisomy on the 21st chromosome, an increase in the content of β-hCG and a decrease in the level of PAPP-A are often observed in the patient's blood. With fetal trisomy on chromosome 18, both indicators show a tendency to a significant decrease relative to the norm. It should be taken in account that both w

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Silva, Bruno Custódio, Thais Vanessa Salvador, Jéssica Karine Hartmann, et al. "Neurological findings in a patient with mosaic chromosome 8 trisomy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.071.

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Context: Mosaic chromosome 8 trisomy is a rare genetic disease that can develop with neurological abnormalities. Case report: A male patient had a deficit in weight gain since his first month of life, in addition to delayed speech and neuropsychomotor. At 2 years old, the family noticed that he did not see well, and then began an ophthalmological investigation that resulted in the diagnosis of bilateral congenital cataract. Moreover, it was observed that the child had microcephaly, epicanthus, and strabismus converging to the right. Abdominal ultrasound showed hepatosplenomegaly and asymmetric

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Gammanpila, H. W., and K. R. Manjula. "Exploring the Influence of Intermittent Heat Exposure on Spontaneous Mutations in Drosophila melanogaster: Assessing the Role of Vitamin C in Mitigating Heat Stress and Examining Inheritance Patterns of Induced Mutations." In SLIIT International Conference on Advancements in Sciences and Humanities 2023. Faculty of Humanities and Sciences, SLIIT, 2023. http://dx.doi.org/10.54389/thuh5711.

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Climate change poses a significant threat to the well-being of organisms. It has a detrimental impact on the survival of smaller organisms in response to climatic shifts, posing a substantial danger to biodiversity, which is already under stress due to habitat loss, emerging invasive species, and diseases. This study aimed to assess the influence of fluctuating temperatures on the physiology and behavior of Drosophila melanogaster, as well as to investigate whether such temperature fluctuations have any effect on phenotypic expression through potential spontaneous mutations. Genotypic changes

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Kozyreva, S. Yu, M. M. Gridina, A. A. Torgasheva, V. S. Fishman, K. S. Zadesenets, and L. P. Malinovskaya. "DISSECTING THE STRUCTURE OF THE CHROMOSOMAL REARRANGEMENTS IN CHROMOSOME 1A IN GREAT TITS (PARUS MAJOR) USING HI-C TECHNIQUE." In OpenBio-2023. ИПЦ НГУ, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-21.

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Polymorphism caused by complex rearrangement on chromosome 1A has been identified in the population of the Great Tit (Parus major). Сhromosomal rearrangement involves large inversion and regions with copy number variations, potentially spanning around 3.5 Mb. Using Hi-C technique we determined the inversion breakpoints with an accuracy of 1000 bp and developed an approach that allowed to discover additional 15 Mb of genomic sequences in the rearranged chromosome.

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Oliveira, YG, EA Moura, MM Montenegro, et al. "IMPORTANCE OF MOLECULAR DIAGNOSIS IN CASES OF MOSAICISM: A CASE WITH MOSAICISM PIGMENTARY AND PRADERWILLI SYNDROME." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.6502.

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Objective: Mosaicism is a usual event in the world population, defined by the presence of two or more genetically different cell lines in the same individual, arising from the same zygote. However, the characterization of mosaicism still poses a great challenge for laboratorial medicine, since variants may not be present in all tissues. This is associated with mosaicism confined to tissue or pigmentary mosaicism, which constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. Method: We present a case of a three year-old male infant, born from

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Guo, Bin, Tao Zhang, Xinwei Wang, and Ying Wang. "Determining Optimal Assembly Sequences for a Robotic Autonomous Assembly Task." In ASME 2013 International Mechanical Engineering Congress and Exposition. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/imece2013-65461.

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This paper proposes a genetic algorithm to determine the optimal assembly sequence for a robotic autonomous assembly task. The coding rule of chromosomes, the selection, crossover and mutation operations are presented. In order to avoid invalid chromosomes, a modified crossover operation is suggested. In addition, a specific fitness table is created to evaluate a random assembly sequence. Some simulation results are employed to validate the effectiveness and accuracy of the proposed approach.

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Reports on the topic "Additional chromosomes"

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Weller, Joel, Harris Lewin, Micha Ron, George Wiggans, and Paul VanRaden. A Systematic Genome Search for Genes Affecting Economic Traits Dairy Cattle with the Aid of Genetic Markers. United States Department of Agriculture, 1999. http://dx.doi.org/10.32747/1999.7695836.bard.

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The objectives were to continue collection of semen for the US dairy bull DNA repository, to conduct a systematic search of the Holstein genome for economically significant economic trait loci (ETL), to develop and refine statistical techniques for the analysis of the data generated, and to confirm significant effects by genotyping daughters i Israel and additional US sons. One-thousand-seventy-six sons of eight US grandsires were genotyped for 174 microsatellites located on all 29 autosomes. ETL were detected for milk production traits on seven chromosomes. ETL for milk and fat yield and fat

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Rocheford, Torbert, Yaakov Tadmor, Robert Lambert, and Nurit Katzir. Molecular Marker Mapping of Genes Enhancing Tocol and Carotenoid Composition of Maize Grain. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7571352.bard.

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The overall objective of this research was to identify chromosomal regions and candidate genes associated with control of concentration and forms of carotenoids (includes pro-Vitamin A) and tocopherols (Vitamin E), which are both antioxidants and are associated with health advantages. Vitamin A and E are included in animal feeding supplements and the eventual goal is to increase levels of these compounds in maize grain so that the cost of these supplements can be reduced or eliminated. Moreover, both compounds are antioxidants that protect unsaturated fatty acids from oxidation and thus mainta

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Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, 2015. http://dx.doi.org/10.32747/2015.7600017.bard.

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The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) de

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Levin, Ilan, John Thomas, Moshe Lapidot, Desmond McGrath, and Denis Persley. Resistance to Tomato yellow leaf curl virus (TYLCV) in tomato: molecular mapping and introgression of resistance to Australian genotypes. United States Department of Agriculture, 2010. http://dx.doi.org/10.32747/2010.7613888.bard.

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Tomato yellow leaf curl virus (TYLCV) is one of the most devastating viruses of cultivated tomatoes. Although first identified in the Mediterranean region, it is now distributed world-wide. Sequence analysis of the virus by the Australian group has shown that the virus is now present in Australia. Despite the importance of the disease and extensive research on the virus, very little is known about the resistance genes (loci) that determine host resistance and susceptibility to the virus. A symptom-less resistant line, TY-172, was developed at the Volcani Center which has shown the highest resi

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Lindow, Steven, Isaac Barash, and Shulamit Manulis. Relationship of Genes Conferring Epiphytic Fitness and Internal Multiplication in Plants in Erwinia herbicola. United States Department of Agriculture, 2000. http://dx.doi.org/10.32747/2000.7573065.bard.

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Most bacterial plant pathogens colonize the surface of healthy plants as epiphytes before colonizing internally and initiating disease. The epiphytic phase of these pathogens is thus an important aspect of their epidemiology and a stage at which chemical and biological control is aimed. However, little is known of the genes and phenotypes that contribute to the ability of bacteria to grow on leaves and survive the variable physical environment in this habitat. In addition, while genes such as hrp awr and others which confer pathogenicity and in planta growth ability have been described, their

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Hulata, Gideon, Thomas D. Kocher, and Micha Ron. Elucidating the molecular pathway of sex determination in cultured Tilapias and use of genetic markers for creating monosex populations. United States Department of Agriculture, 2007. http://dx.doi.org/10.32747/2007.7695855.bard.

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The objectives of this project were to: 1) Identify genetic markers linked to sex-determining genes in various experimental and commercial stocks of O. niloticusand O. aureus, as well as red tilapias; 2) Develop additional markers tightly linked to these sex determiners, and develop practical, non-destructive genetic tests for identifying genotypic sex in young tilapia; A third aim, to map sex modifier loci, was removed during budget negotiations at the start of the project. Background to the topic. A major obstacle to profitable farming of tilapia is the tendency of females to reproduce at a

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Dubcovsky, Jorge, Tzion Fahima, and Ann Blechl. Positional cloning of a gene responsible for high grain protein content in tetraploid wheat. United States Department of Agriculture, 2003. http://dx.doi.org/10.32747/2003.7695875.bard.

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High Grain Protein Content (GPC) is a desirable trait in breadmaking and pasta wheat varieties because of its positive effects on quality and nutritional value. However, selection for GPC is limited by our poor understanding of the genes involved in the accumulation of protein in the grain. The long-term goal of this project is to provide a better understanding of the genes controlling GPC in wheat. The specific objectives of this project were: a) to develop a high-density genetic map of the GPC gene in tetraploid wheat, b) to construct a T. turgidum Bacterial Artificial Chromosome (BAC) libra

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Ginzberg, Idit, and Walter De Jong. Molecular genetic and anatomical characterization of potato tuber skin appearance. United States Department of Agriculture, 2008. http://dx.doi.org/10.32747/2008.7587733.bard.

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Potato (Solanum tuberosum L.) skin is composed of suberized phellem cells, the outer component of the tuber periderm. The focus of the proposed research was to apply genomic approaches to identify genes that control tuber skin appearance - smooth and shiny skin is highly preferred by the customers while russeted/netted skin potatoes are rejected. The breeding program (at Cornell University) seeks to develop smooth-skin varieties but has encountered frequent difficulties as inheritance of russeting involves complementary action by independently segregating genes, where a dominant allele at each

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Sela, Hanan, Eduard Akhunov, and Brian J. Steffenson. Population genomics, linkage disequilibrium and association mapping of stripe rust resistance genes in wild emmer wheat, Triticum turgidum ssp. dicoccoides. United States Department of Agriculture, 2014. http://dx.doi.org/10.32747/2014.7598170.bard.

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The primary goals of this project were: (1) development of a genetically characterized association panel of wild emmer for high resolution analysis of the genetic basis of complex traits; (2) characterization and mapping of genes and QTL for seedling and adult plant resistance to stripe rust in wild emmer populations; (3) characterization of LD patterns along wild emmer chromosomes; (4) elucidation of the multi-locus genetic structure of wild emmer populations and its correlation with geo-climatic variables at the collection sites. Introduction In recent years, Stripe (yellow) rust (Yr) caused

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Dubcovsky, Jorge, Tzion Fahima, Ann Blechl, and Phillip San Miguel. Validation of a candidate gene for increased grain protein content in wheat. United States Department of Agriculture, 2007. http://dx.doi.org/10.32747/2007.7695857.bard.

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High Grain Protein Content (GPC) of wheat is important for improved nutritional value and industrial quality. However, selection for this trait is limited by our poor understanding of the genes involved in the accumulation of protein in the grain. A gene with a large effect on GPC was detected on the short arm of chromosome 6B in a Triticum turgidum ssp. dicoccoides accession from Israel (DIC, hereafter). During the previous BARD project we constructed a half-million clones Bacterial Artificial Chromosome (BAC) library of tetraploid wheat including the high GPC allele from DIC and mapped the G

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