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Journal articles on the topic 'Alleles'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Tarr, Phillip I., Laura M. Schoening, Yoo-Lee Yea, Teresa R. Ward, Srdjan Jelacic, and Thomas S. Whittam. "Acquisition of the rfb-gnd Cluster in Evolution of Escherichia coli O55 and O157." Journal of Bacteriology 182, no. 21 (2000): 6183–91. http://dx.doi.org/10.1128/jb.182.21.6183-6191.2000.

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ABSTRACT The rfb region specifies the structure of lipopolysaccharide side chains that comprise the diverse gram-negative bacterial somatic (O) antigens. The rfb locus is adjacent to gnd, which is a polymorphic gene encoding 6-phosphogluconate dehydrogenase. To determine if rfb andgnd cotransfer, we sequenced gnd in five O55 and 13 O157 strains of Escherichia coli. E. coli O157:H7 has a gnd allele (allele A) that is only 82% identical to the gnd allele (alleleD) of closely related E. coli O55:H7. In contrast, gnd alleles of E. coli O55 in distant lineages are >99.9% identical to gnd alleleD

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2

Manivasakam, P., Susan M. Rosenberg, and P. J. Hastings. "Poorly Repaired Mismatches in Heteroduplex DNA are Hyper-Recombinagenic in Saccharomyces cerevisiae." Genetics 142, no. 2 (1996): 407–16. http://dx.doi.org/10.1093/genetics/142.2.407.

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Abstract In yeast meiotic recombination, alleles used as genetic markers fall into two classes as regards their fate when incorporated into heteroduplex DNA. Normal alleles are those that form heteroduplexes that are nearly always recognized and corrected by the mismatch repair system operating in meiosis. High PMS (postmeiotic segregation) alleles form heteroduplexes that are inefficiently mismatch repaired. We report that placing any of several high PMS alleles very close to normal alleles causes hyperrecombination between these markers. We propose that this hyperrecombination is caused by t

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3

Suprovych, T., N. Suprovych, T. Karchevska, I. Chornyy та V. Chepurna. "АЛЕЛЬНИЙ ПОЛІМОРФІЗМ ГЕНА BOLA–DRB3.2 В ЗВ’ЯЗКУ З ТИПАМИ ВИВІДНОЇ СИСТЕМИ ВИМЕНІ ТА МАСТИТАМИ КОРІВ УКРАЇНСЬКОЇ ЧОРНО–РЯБОЇ МОЛОЧНОЇ ПОРОДИ". Scientific Messenger of LNU of Veterinary Medicine and Biotechnologies 18, № 3(71) (2016): 117–23. http://dx.doi.org/10.15421/nvlvet7127.

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The results comparing the two types of markers associated with susceptibility (by resistance) cows to mastitis presented in the article. Previous studies indicated 2 markers. There are allele gene BOLA–DRB3.2 and placer or magistral type of excretory ducts udder. The study was conducted by identifying spectrum allele's and types of excretory ducts udder of cows in 47 Ukrainian Black Pied dairy breed. Some of the animals (28 caw) have in the genotype «informative» alleles that indicate association with mastitis or resistance to the disease. Susceptible cows to the disease often have a placer ty

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Searle, Susan, and Jenefer M. Blackwell. "Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility." Journal of Medical Genetics 36, no. 4 (1999): 295–99. http://dx.doi.org/10.1136/jmg.36.4.295.

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A polymorphism in the promoter of human NRAMP1 encodes a Z-DNA forming dinucleotide repeat with four alleles: (1) t(gt)5ac(gt)5ac(gt)11g; (2) t(gt)5ac(gt)5 ac(gt)10g; (3) t(gt)5ac(gt)5ac(gt)9g; and (4) t(gt)5ac(gt)9g. Alleles 1 and 4 are rare (gene frequencies ∼0.001); alleles 2 and 3 occur at gene frequencies ∼0.20−0.25 and ∼0.75− 0.80, respectively. Here, luciferase reporter gene constructs are used to show that the four alleles differ in their ability to drive gene expression. In the absence of exogenous stimuli, alleles 1, 2, and 4 are poor promoters; allele 3 drives high expression, indic

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5

Mortin, M. A., W. J. Kim, and J. Huang. "Antagonistic interactions between alleles of the RpII215 locus in Drosophila melanogaster." Genetics 119, no. 4 (1988): 863–73. http://dx.doi.org/10.1093/genetics/119.4.863.

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Abstract The RpII215 locus encodes the large subunit of RNA polymerase II (polII). Three of 22 RpII215 alleles cause a synergistic enhancement of the mutant phenotype elicited by mutations in the Ultrabithorax (Ubx) locus. We have recovered and analyzed three new mutations that suppress this enhancement. All three mutations map to the RpII215 locus. In addition to suppressing the Ubx enhancement of other RpII215 alleles, two of the new mutations, JH1 and WJK2, themselves enhance Ubx. RpII215 alleles can be placed into three classes based on their ability to enhance Ubx. Class I alleles, includ

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6

Ji, Ling, Shixiu Pan, Jacqueline Marti-Jaun, Edgar Hänseler, Katharina Rentsch, and Martin Hersberger. "Single-Step Assays to Analyze CYP2D6 Gene Polymorphisms in Asians: Allele Frequencies and a Novel *14B Allele in Mainland Chinese." Clinical Chemistry 48, no. 7 (2002): 983–88. http://dx.doi.org/10.1093/clinchem/48.7.983.

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Abstract Background: Cytochrome P450-dependent monooxygenase 2D6 (CYP2D6) activity can be estimated by investigating the metabolism of model drugs or by genotyping the most common CYP2D6 alleles. For Caucasians, the CYP2D6 allele frequencies are well investigated, and single-step assays are available for genotyping, whereas allele analysis in mainland Chinese is limited. Methods: Two tetra-primer assays and one allele-specific amplification assay were developed to easily genotype the CYP2D6 alleles *8, *10, and *14 previously detected in Asians. Applying these assays in combination with establ

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7

Sharma, B. S., C. P. Verschoor, and N. A. Karrow. "Short Communication: Associations of BoLA alleles DRB3.2*16 and DRB3.2*23 with health-related traits in Holstein bulls." Canadian Journal of Animal Science 91, no. 4 (2011): 597–600. http://dx.doi.org/10.4141/cjas2010-040.

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Sharma, B. S., Verschoor, C. P. and Karrow, N. A. 2011. Short communication:Associations of BoLA alleles DRB3.2*16 and DRB3.2*23 with health-related traits in Holstein bulls. Can. J. Anim. Sci. 91: 597–600. The relationships between bovine leukocyte antigen (BoLA) DRB3.2 alleles and health and fertility traits were investigated. A group of 548 Canadian and American Holstein bulls was genotyped for the presence of DRB3.2*16 and DRB3.2*23 alleles using the multi-primer target polymerase chain reaction technique. The traits of interest included somatic cell score (SCS), lactation persistency, dau

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8

Selby, Sandra, and Phillip Posch. "TNF promoter region allele frequencies in the White population and their expression levels (34.11)." Journal of Immunology 184, no. 1_Supplement (2010): 34.11. http://dx.doi.org/10.4049/jimmunol.184.supp.34.11.

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Abstract Tumor necrosis factor (TNF) is a pro-inflammatory cytokine that plays a variety of roles in immune regulation and disease. The TNF regulatory region contains numerous SNPs some of which affect expression. We previously identified nine alleles of TNF promoter region from random samples, but allele frequencies in different populations and diversity of the gene, as well as expression levels driven by the promoter alleles are not known. The TNF promoter and gene were sequenced from 82 random healthy White individuals. Three novel promoter alleles and two novel SNPs were identified. Novel

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9

Vässin, Harald, and Jose A. Campos-Ortega. "Genetic Analysis of Delta, a Neurogenic Gene of Drosophila melanogaster." Genetics 116, no. 3 (1987): 433–45. http://dx.doi.org/10.1093/genetics/116.3.433.

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ABSTRACT We report here the results of a genetic analysis of the gene Delta (Dl) of Drosophila melanogaster. Dl has been mapped to the band 92A2, on the basis of two pieces of evidence: (1) this band is the common breakpoint of several chromosomal aberrations associated with Dl mutations and (2) recombination mapping of alleles of five different lethal complementation groups that are uncovered by Df(3R)DlFX3 (breakpoints at 91F11; 92A3). Dl was found to map most distally of all five complementation groups. The analysis of a large number of Dl alleles demonstrates the considerable genetic and f

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10

Iqbal, Muhammad, Alireza Navabi, Rong-Cai Yang, Donald F. Salmon, and Dean Spaner. "Molecular characterization of vernalization response genes in Canadian spring wheat." Genome 50, no. 5 (2007): 511–16. http://dx.doi.org/10.1139/g07-028.

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Vernalization response (Vrn) genes play a major role in determining the flowering/maturity times of spring-sown wheat. We characterized a representative set of 40 western Canadian adapted spring wheat cultivars/lines for 3 Vrn loci. The 40 genotypes were screened, along with 4 genotypes of known Vrn genes, using previously published genome-specific polymerase chain reaction primers designed for detecting the presence or absence of dominant or recessive alleles of the major Vrn loci: Vrn-A1, Vrn-B1, and Vrn-D1. The dominant promoter duplication allele Vrn-A1a was present in 34 of 40 cultivars/l

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11

Huang, Shu-Pang, and B. S. Weir. "Estimating the Total Number of Alleles Using a Sample Coverage Method." Genetics 159, no. 3 (2001): 1365–73. http://dx.doi.org/10.1093/genetics/159.3.1365.

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Abstract Previously reported methods for estimating the number of different alleles at a single locus in a population have not described a useful general result. Using the number of alleles observed in a sample gives an underestimate for the true number of alleles. The similar problem of estimating the number of species in a population was first investigated in 1943. In this article we use the sample coverage method proposed by Chao and Lee in 1992 to estimate the number of alleles in a population when there are unequal allele frequencies. Simulation studies under the recurrent mutation model

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12

Tanya, Chauhan. "Identification of Variant Alleles at CODIS STR loci in Different Populations of India." International Journal of Forensic Science & Pathology 3, no. 9 (2015): 172–75. https://doi.org/10.19070/2332-287X-1500042.

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Two population’s DNA profiling was screened for variant alleles not included within the allelic ladder provided by the manufacturer of GenePrint STR system (Promega Corporation, Madison, US). A total of 3 variant alleles were identified at 3 out of 12 STR loci tested. This study identified one variant allele at TH01 locus (allele 8.3), one at TPOX locus (allele 14) and one at vWA locus (allele 21). All these alleles have been reported previously in different populations. Allele 8.3 found at TH01 fell within the allelic range while allele 14 found at TPOX and allele 21

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13

Zoteyeva, Nadezhda, Ilze Skrabule, Ieva Mežaka, Daiga Vilcāne, Guna Usele, and Nils Rostoks. "The impact of R1and R3a genes on tuber resistance to late blight of the potato breeding clones." Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences. 70, no. 2 (2016): 58–63. http://dx.doi.org/10.1515/prolas-2016-0010.

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Abstract Potato breeding clones were evaluated for resistance to late blight (agent Phytophthora infestans) using tuber inoculation tests and for presence of the resistance alleles of R1 and R3a genes in polymerase chain reaction tests. Among clones tested those expressing high, moderate and low resistance were identified. The data were analysed for the impact of R1 and R3a genes on tuber resistance to late blight in tested plant material. In previous evaluations performed on smaller amount of clones the tuber resistance levels significantly depended on presence/absence of the resistance allel

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14

Edirisinghe, I. K., K. I. S. Thamali, N. H. L. D. L. D. Nanayakkara, et al. "Allele Profiling of Bacterial Blight Resistance Genes <em>Xa4, Xa38</em>, and <em>Xa21</em> in Selected Sri Lankan Rice Germplasm." Tropical Agricultural Research 35, no. 2 (2024): 143–51. http://dx.doi.org/10.4038/tar.v35i2.8745.

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In rice, resistance to bacterial blight (BB) is conveyed by several Xa genes, among which Xa4, Xa21 and Xa38 convey durable resistance. Most Sri Lankan rice germplasm is uncharacterized for the alleles carried at Xa genes. Knowledge on the allele profile of major Xa genes of rice accessions/varieties is essential for making informed decisions in rice breeding programs. In the current study, the allele profiles of 42 Sri Lankan rice accessions/varieties were developed targeting three Xa genes (Xa4, Xa21, and Xa38) using intragenic/linked markers amplifying known resistance/susceptible alleles.

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15

Hauck, Nathanael R., Amy F. Iezzoni, Hisayo Yamane, and Ryutaro Tao. "Revisiting the S-allele Nomenclature in Sweet Cherry (Prunus avium) Using RFLP Profiles." Journal of the American Society for Horticultural Science 126, no. 6 (2001): 654–60. http://dx.doi.org/10.21273/jashs.126.6.654.

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Correct assignment of self-incompatibility alleles (S-alleles) in sweet cherry (Prunus avium L.) is important to assure fruit set in field plantings and breeding crosses. Until recently, only six S-alleles had been assigned. With the determination that the stylar product of the S-locus is a ribonuclease (RNase) and subsequent cloning of the S-RNases, it has been possible to use isoenzyme and DNA analysis to genotype S-alleles. As a result, numerous additional S-alleles have been identified; however, since different groups used different strategies for genotype analysis and different cultivars,

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Lee, K. W., A. H. Johnson, and C. K. Hurley. "Two divergent routes of evolution gave rise to the DRw13 haplotypes." Journal of Immunology 145, no. 9 (1990): 3119–25. http://dx.doi.org/10.4049/jimmunol.145.9.3119.

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Abstract The HLA class II genes and haplotypes have evolved over a long period of evolutionary time by mechanisms such as gene conversion, reciprocal recombination and point mutation. The extent of the diversity generated is most clearly evident in an analysis of the HLA class II alleles present within DRw13 haplotypes. This study uses cDNA sequencing to examine the first domains of DRB1, DRB3, DQA1, and DQB1 alleles from several American black individuals expressing seven different DRw13 haplotypes, five with undefined HLA-D specificities (i.e., not Dw18 or Dw19). Two new DRw13 alleles descri

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17

Sakurai, Kenji, Susan K. Brown, and Norman F. Weeden. "Determining the Self-incompatibility Alleles of Japanese Apple Cultivars." HortScience 32, no. 7 (1997): 1258–59. http://dx.doi.org/10.21273/hortsci.32.7.1258.

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The S alleles of 15 Japanese apple cultivars were determined by using the allele-specific polymerase chain reaction amplification and restriction enzyme digestion system developed by Janssens et al. (1995). Both S alleles were identified in eight diploid cultivars, two S alleles in three triploid cultivars, and one S allele in the remaining four diploid cultivars. Two cultivars had S alleles different than those predicted by their parentage, and in one comparison of a cultivar with its sport, an identity problem was discovered. The technique helped to indicate the parent contributing the unred

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18

Costa, Júlia Gatti Ladeia, Érica Santos Martins-Duarte, Lorena Velozo Pinto, Ramon Araujo de Castro Baraviera, Wagner Martins Fontes do Rego, and Ricardo Wagner de Almeida Vitor. "Investigation of Virulence-Related Markers in Atypical Strains of Toxoplasma gondii from Brazil." Microorganisms 13, no. 2 (2025): 301. https://doi.org/10.3390/microorganisms13020301.

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Toxoplasma gondii is an obligate intracellular protozoan parasite distributed worldwide that infects a wide range of warm-blooded animals, including humans. Recent studies sought to clarify the relationship between the alleles GRA15, ROP5, ROP16, ROP17, and ROP18 and the virulence of T. gondii isolates in mice. This work aims to analyze the variability of genes that express T. gondii virulence proteins of 103 strains. Most strains were virulent for mice (76/103–73.79%); within these, 30 were 100% lethal, and 46 caused a cumulative mortality range from 20% to 93%. For the GRA15 marker, most str

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Djukic, Nevena, Desimir Knezevic, Daniela Horvat, Dragan Zivancev, and Aleksandra Torbica. "Similarity of cultivars of wheat (Triticum durum) on the basis of composition of Gliadin alleles." Genetika 43, no. 3 (2011): 527–36. http://dx.doi.org/10.2298/gensr1103527d.

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Twenty one durum wheat cultivars originating from different world countries were investigated. Composition of gliadins was analyzed by acid polyacrylamide gel electrophoresis. Allele composition of gliadins was determined on the basis of identified gliadin blocks. Polymorphisms of Gli- loci was established and 27 different gliadin alleles were identified, namely, 5 at Gli-A1, 4 at Gli-B1, 9 at Gli-A2 and 9 alleles at Gli-B2 locus. The catalogue of determined alleles was presented. Frequency of alleles ranged from 4.76% to 42.86%. Heterozygous Gli-loci were identified at two durum cultivars. Si

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Tan, Geok Wee, Peijia Jiang, Ilja M. Nolte, et al. "HLA Expression in Relation to HLA Type in Classic Hodgkin Lymphoma Patients." Cancers 13, no. 22 (2021): 5833. http://dx.doi.org/10.3390/cancers13225833.

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Several human leukocyte antigen (HLA) alleles are strongly associated with susceptibility to classic Hodgkin lymphoma (cHL), also in subgroups stratified for presence of the Epstein–Barr virus (EBV). We tested the hypothesis that the pressure on cHL tumour cells to lose HLA expression is associated with HLA susceptibility alleles. A meta-analysis was carried out to identify consistent protective and risk HLA alleles in a combined cohort of 839 cHL patients from the Netherlands and the United Kingdom. Tumour cell HLA expression was studied in 338 cHL cases from these two cohorts and correlated

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Patel, L. R., A. B. Morris, R. Achram, E. Yurekci, H. C. Sullivan, and R. A. Bray. "Reporting a Rare HLA Allele with Sequence Analysis Prevents Potentially Lethal Allopurinol Hypersensitivity Reaction." American Journal of Clinical Pathology 162, Supplement_1 (2024): S126. http://dx.doi.org/10.1093/ajcp/aqae129.278.

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Abstract Introduction/Objective In addition to their essential role in histocompatibility testing, human leukocyte antigen (HLA) alleles have informative pharmacogenomic and disease associations. For example, HLA-B*58:01 carriers have 100- fold greater risk of allopurinol hypersensitivity syndrome (AHS), a lethal T-cell mediated Type IV reaction with a 20- 25% mortality rate. To prevent AHS, patients are tested for carrier status before treatment. Methods/Case Report Patient presented for workup of intermittently flaring right knee pain and uricemia. Uric acid is elevated, plain film imaging i

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BĂCILĂ, Ioan, Voichița HAȘ, Dana ȘUTEU, et al. "Screening of the Romanian maize (Zea mays L.) germplasm for crtRB1 and lcyE alleles enhancing the provitamin A concentration in endosperm." Notulae Botanicae Horti Agrobotanici Cluj-Napoca 50, no. 3 (2022): 12621. http://dx.doi.org/10.15835/nbha50312621.

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Maize occupies a significant place in the world agriculture. Yellow kernel maize contains mainly non-provitamin A carotenoids: lutein and zeaxanthin. The accumulation of provitamin A carotenoids is regulated by favourable alleles of lcyE and crtRB1 genes and could be used for the enhancement of these carotenoids in the maize grain through breeding. In this study, molecular screening of the Romanian germplasm was performed, looking for favourable alleles of the crtRB1 and lcyE genes, and the level of carotenoids was determined in a few selected lines. A number of 2746 inbred lines from seven re

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Gabay-Laughnan, Susan, Christine D. Chase, Victor M. Ortega, and Liming Zhao. "Molecular-Genetic Characterization of CMS-S Restorer-of-Fertility Alleles Identified in Mexican Maize and Teosinte." Genetics 166, no. 2 (2004): 959–70. http://dx.doi.org/10.1093/genetics/166.2.959.

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Abstract Restorer-of-fertility (Rf) alleles for S-type cytoplasmic male sterility (CMS-S) are prevalent in Mexican races of maize and teosinte. Forty-five Rf alleles from 26 races of maize and 6 Rf alleles from different accessions of teosinte were found to be homozygous viable, consistent with the hypothesis that they are naturally occurring Rf alleles. Mapping and allelism studies were performed to assess the number of genes represented by these 51 alleles. Forty-two of the Rf alleles mapped to the long arm of chromosome 2 (2L), and 5 of these were further mapped to the whp1-rf3 region. The

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Ahn, Jeong Hwan, Soo-Kyung Lee, and Chul Soo Park. "Evaluation of genetic variations at glutenin loci in Korean wheat landraces using allele-specific DNA markers." Plant Genetic Resources 12, no. 3 (2014): 353–56. http://dx.doi.org/10.1017/s1479262114000926.

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The allelic variations at glutenin loci could significantly affect the bread baking quality, and specific glutenin alleles might be closely associated with greater gluten strength, which, in turn, is related to superior bread baking quality. In this study, allelic variations at Glu-1, Glu-A3 and Glu-B3 loci were evaluated in 222 Korean wheat landraces using gene-specific polymerase chain reaction (PCR) markers. Ten alleles were identified at Glu-1 loci. Glu-A1c, Glu-B1b, and Glu-D1a or Glu-D1f alleles were predominantly found at the respective loci and their frequencies were 86.5, 87.8 and 96.

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Westerdahl, Helena, Muhammad Asghar, Dennis Hasselquist, and Staffan Bensch. "Quantitative disease resistance: to better understand parasite-mediated selection on major histocompatibility complex." Proceedings of the Royal Society B: Biological Sciences 279, no. 1728 (2011): 577–84. http://dx.doi.org/10.1098/rspb.2011.0917.

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We outline a descriptive framework of how candidate alleles of the immune system associate with infectious diseases in natural populations of animals. Three kinds of alleles can be separated when both prevalence of infection and infection intensity are measured—qualitative disease resistance, quantitative disease resistance and susceptibility alleles. Our descriptive framework demonstrates why alleles for quantitative resistance and susceptibility cannot be separated based on prevalence data alone, but are distinguishable on infection intensity. We then present a case study to evaluate a previ

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Manga, I., and J. Dvořák. "TaqMan allelic discrimination assay for A1 and A2 alleles of the bovine CSN2 gene." Czech Journal of Animal Science 55, No. 8 (2010): 307–12. http://dx.doi.org/10.17221/89/2009-cjas.

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Alleles A1 and A2 of the Bos taurus CSN2 gene are the most frequent in a number of dairy cattle breeds. In this study, a new allelic discrimination assay using TaqMan fluorogenic probes was developed to detect single nucleotide substitution characterizing the A1/A2 alleles of the CSN2 gene. The method was validated using DNA samples of known genotypes with different concentrations and the results were compared with those for the commonly used problematic ACRS-PCR. We found the TaqMan method to be more effective, 100% reliable and hundred times more sensitive for testing the CSN2 genetic marker

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Imamura, Chiyo K., Taisei Mushiroda, Mari Hosonaga, et al. "An exploratory study on prediction of risk for abemaciclib-induced interstitial lung disease or hepatotoxicity by specific human leukocyte antigen alleles." Journal of Clinical Oncology 42, no. 16_suppl (2024): 3087. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.3087.

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3087 Background: Interstitial lung disease (ILD) and hepatotoxicity have been observed in a small population of patients treated with abemaciclib. It has been reported that the antitumor effect of cyclin-dependent kinases 4 and 6 inhibitors including abemaciclib is contributed by not only inducing tumor cell cycle arrest but also promoting antitumor immunity. Based on our experience of higher incidence of severe toxicities in the clinical study of abemaciclib combined with nivolumab, we speculated that abemaciclib-related toxicity might also be mediated by immune system. This study sought to i

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Eagles, H. A., Karen Cane, and Neil Vallance. "The flow of alleles of important photoperiod and vernalisation genes through Australian wheat." Crop and Pasture Science 60, no. 7 (2009): 646. http://dx.doi.org/10.1071/cp09014.

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The photoperiod sensitivity gene Ppd-D1 and the vernalisation genes Vrn-A1, Vrn-B1, and Vrn-D1 are known to contribute to optimal adaptation to specific environments. Diagnostic molecular markers for detecting important alleles of these genes are now available, including for 2 distinct spring alleles of Vrn-A1 (a and b). As a first step for determining the relative importance of these alleles, they were characterised in Australian cultivars released from the late 19th until the early 21st Century. The photoperiod-insensitive Ppd-D1a allele did not occur in the Australian cultivars we assessed

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Spencer, H. G., and R. W. Marks. "The maintenance of single-locus polymorphism. IV. Models with mutation from existing alleles." Genetics 130, no. 1 (1992): 211–21. http://dx.doi.org/10.1093/genetics/130.1.211.

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Abstract The ability of viability selection to maintain allelic polymorphism is investigated using a constructionist approach. In extensions to the models we have previously proposed, a population is bombarded with a series of mutations whose fitnesses in conjunction with other alleles are functions of the corresponding fitnesses with a particular allele, the parent allele, already in the population. Allele frequencies are iterated simultaneously, thus allowing alleles to be driven to extinction by selection. Such models allow very high levels of polymorphism to evolve: up to 38 alleles in one

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Knezevic, Desimir, and Aleksandra Novoselskaya-Dragovich. "Polymorphism of Gli-D1 alleles of Kragujevac’s winter wheat cultivars (Triticum aestivum L.)." Genetika 39, no. 2 (2007): 273–82. http://dx.doi.org/10.2298/gensr0702273k.

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Composition of gliadins encoded by Gli-D1 allele as well polymorphisms of Gli-D1 allele investigated in 25 wheat cultivars by using acid polyacrylamide gel electrophoresis. Electrophoregrams obtained by polyacrylamide gel electrophoresis were used for estimation variability of gliadin components and identification of gliadin blocks. Five gliadin blocks encoded by different alleles at Gli-D1 locus were apparently expressed and identified. Gliadin blocks differed according to number of components and their molecular mass. Variability of determined block components indicates that existing polymor

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Mersiyanova, I. I., Yu A. Knyazev, M. V. Burdenko, T. V. Sebko, and О. V. Yevgrafov. "Associations between insulin-dependent diabetes mellitus and HLA-DQA1 alleles." Problems of Endocrinology 41, no. 4 (1995): 3–5. http://dx.doi.org/10.14341/probl11449.

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The incidence of HLA-DQA1 alleles was assessed in patients with insulin-dependent diabetes mellitus (IDDM), their relatives, and healthy controls using HLA-DQA1 genotyping by digestion of PCR amplified DNA with allele-specific restriction enzymes. A significant increase in the incidence of HLA-DQA1*0301 allele was observed in diabetics although the ratio of DQA1*0301 homozygotes to heterozygotes was similar in the patients and controls. The presence of one DQA 1*0301 allele in the genome appeared to be sufficient for susceptibility to IDDM. Comparison of the incidence of other DQA1 "Arg52" all

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Batra, T. R., P. A. Macdonald, and M. J. Stear. "Association of class I bovine lymphocyte antigens with production traits in the Ayrshire breed." Canadian Journal of Animal Science 74, no. 4 (1994): 703–5. http://dx.doi.org/10.4141/cjas94-102.

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Ninety progeny tested Canadian Ayrshire bulls were serologically typed for the BoLA-A locus to determine the association of these alleles with production traits. After exclusion of bulls carrying alleles that occurred at frequencies lower than 2% or whose production proofs were not available, records from 78 bulls remained for analysis. A gene substitution model, which included the effects of BoLA alleles and the breeding value of the sire of the bull as covariate, was used to evaluate the additive effects of BoLA alleles of bulls (ETAs) on the production traits of their daughters. Allele W17

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Wang, Zaolin, P. Scott White, Michelle Petrovic, et al. "Differential Susceptibilities to Chronic Beryllium Disease Contributed by Different Glu69 HLA-DPB1 and -DPA1 Alleles." Journal of Immunology 163, no. 3 (1999): 1647–53. http://dx.doi.org/10.4049/jimmunol.163.3.1647.

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Abstract Chronic beryllium disease (CBD) is associated with the allelic substitution of a Glu69 in the HLA-DPB1 gene. Although up to 97% of CBD patients may have the Glu69 marker, about 30–45% of beryllium-exposed, unaffected individuals carry the same marker. Because CBD occurs in only 1–6% of exposed workers, the presence of Glu69 does not appear to be the sole genetic factor underlying the disease development. Using two rounds of direct automated DNA sequencing to precisely assign HLA-DPB1 haplotypes, we have discovered highly significant Glu69-containing allele frequency differences betwee

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Khavkin, E. E., M. V. Zabrodina, and D. Ya Silis. "Isoenzymes of aspartate aminotransferase in perennial and annual rye and their hybrids." Genome 39, no. 3 (1996): 513–19. http://dx.doi.org/10.1139/g96-065.

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Aspartate aminotransferase patterns were screened in a collection of rye genotypes that included 24 accessions of wild perennial rye (Secale montanum Guss.), 6 accessions of cultivated perennial Derzhavin and Tsitsin rye (Secale cereale × S. montanum), 15 accessions of winter and spring rye cultivars (S. cereale L.), and 9 accessions of perennial and annual rye genotypes bred from S. montanum ssp. kuprijanovii, Derzhavin rye, and winter rye for their resistance to fungal diseases. Aspartate aminotransferase is coded for by four loci. The data fit the model where AAT 1/4 is coded by Aat 1 and A

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Kruger, F. J. "Enzyme polymorphism in Schistosoma mattheei from cattle in the Eastern Transvaal Lowveld." Journal of Helminthology 63, no. 3 (1989): 191–96. http://dx.doi.org/10.1017/s0022149x0000897x.

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ABSTRACTEnzyme electrophoresis was conducted on 10 Schistosoma mattheei adult worm samples, comprising 270 individuals, collected from cattle in the Eastern Transvaal Lowveld. Glucose-6-phosphate dehydrogenase (G6PDH) was studied in all the samples and phosphoglucomutase (PGM) and malate dehydrogenase (MDH) in five populations each. Only one population was polymorphic for G6PDH. In this population, in addition to the allele found in all the other samples, a second allele occurred with a similar Rf value to S. haematobium. The two alleles were in Hardy-Weinberg equilibrium. MDH-1 exhibited two

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Paradkar, Minal U., Swarup A. V. Shah, Alpa J. Dherai, Dhanashri Shetty, and Tester F. Ashavaid. "Distribution of CYP2D6 genotypes in the Indian population – preliminary report." Drug Metabolism and Personalized Therapy 33, no. 3 (2018): 141–51. http://dx.doi.org/10.1515/dmpt-2018-0011.

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Abstract Background Cytochrome P450 2D6 (CYP2D6) allelic distribution exhibits differences amongst worldwide populations. There is lack of data from Mumbai, Western India, on the major CYP2D6 alleles *2, *3, *4, *5, *10 and *41, and gene multiplication alleles. Hence, the present study was undertaken to determine the distribution of these clinically relevant CYP2D6 alleles. Methods Fifty-two healthy individuals were screened using TaqMan SNP genotyping and copy number variation (CNV) assays by real-time polymerase chain reaction. Results The allele frequencies of CYP2D6*2, *3, *4, *5, *10 and

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Madrigal, J. A., M. P. Belich, W. H. Hildebrand, et al. "Distinctive HLA-A,B antigens of black populations formed by interallelic conversion." Journal of Immunology 149, no. 10 (1992): 3411–15. http://dx.doi.org/10.4049/jimmunol.149.10.3411.

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Abstract Alleles encoding five HLA-A and B Ag characteristic of black populations have been isolated and their nucleotide sequences determined. In each case, the "black" allele is similar to a "related" allele found in caucasoid populations. The primary differences between these pairs of alleles are localized clusters of nucleotide substitutions that change two to five residues of the Ag recognition site. The pattern of differences indicates that the pairs of black and caucasoid alleles diverged primarily as a result of interallelic conversion events.

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Johnson, Toby, and Nick H. Barton. "The Effect of Deleterious Alleles on Adaptation in Asexual Populations." Genetics 162, no. 1 (2002): 395–411. http://dx.doi.org/10.1093/genetics/162.1.395.

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Abstract We calculate the fixation probability of a beneficial allele that arises as the result of a unique mutation in an asexual population that is subject to recurrent deleterious mutation at rate U. Our analysis is an extension of previous works, which make a biologically restrictive assumption that selection against deleterious alleles is stronger than that on the beneficial allele of interest. We show that when selection against deleterious alleles is weak, beneficial alleles that confer a selective advantage that is small relative to U have greatly reduced probabilities of fixation. We

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Schierup, Mikkel H., Xavier Vekemans, and Freddy B. Christiansen. "Allelic Genealogies in Sporophytic Self-Incompatibility Systems in Plants." Genetics 150, no. 3 (1998): 1187–98. http://dx.doi.org/10.1093/genetics/150.3.1187.

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Abstract Expectations for the time scale and structure of allelic genealogies in finite populations are formed under three models of sporophytic self-incompatibility. The models differ in the dominance interactions among the alleles that determine the self-incompatibility phenotype: In the SSIcod model, alleles act codominantly in both pollen and style, in the SSIdom model, alleles form a dominance hierarchy, and in SSIdomcod, alleles are codominant in the style and show a dominance hierarchy in the pollen. Coalescence times of alleles rarely differ more than threefold from those under gametop

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Mounkes, Leslie C., and Margaret T. Fuller. "Molecular Characterization of Mutant Alleles of the DNA Repair/Basal Transcription Factor haywire/ERCC3 in Drosophila." Genetics 152, no. 1 (1999): 291–97. http://dx.doi.org/10.1093/genetics/152.1.291.

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Abstract The haywire gene of Drosophila encodes a putative helicase essential for transcription and nucleotide excision repair. A haywire allele encoding a dominant acting poison product, lethal alleles, and viable but UV-sensitive alleles isolated as revertants of the dominant acting poison allele were molecularly characterized. Sequence analysis of lethal haywire alleles revealed the importance of the nucleotide-binding domain, suggesting an essential role for ATPase activity. The viable haync2 allele, which encodes a poison product, has a single amino acid change in conserved helicase domai

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Wu, H., K. Taniguchi, F. Wakasugi, et al. "Survey on the distribution of the gene 4 alleles of human rotaviruses by polymerase chain reaction." Epidemiology and Infection 112, no. 3 (1994): 615–22. http://dx.doi.org/10.1017/s0950268800051311.

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SUMMARYThe presence of six gene 4 alleles (or VP4 genotypes) in human rotaviruses has been recognized. Using 16 representative cultivable human rotavirus strains, we confirmed the specificity of VP4 genotyping by polymerase chain reaction (PCR) using the nested oligonucleotides specific to each of the four representative gene 4 alleles. Using the PCR. we surveyed the gene 4 alleles of 199 human rotaviruses in stools collected in Japan and Thailand. Strains with the gene 4 allele, corresponding to P1A serotype. were shown to be the most prevalent, but two strains with P2 gene 4 allele and one s

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Fujii, Hiroshi, Keisuke Nonaka, Mai F. Minamikawa, et al. "Allelic composition of carotenoid metabolic genes in 13 founders influences carotenoid composition in juice sac tissues of fruits among Japanese citrus breeding population." PLOS ONE 16, no. 2 (2021): e0246468. http://dx.doi.org/10.1371/journal.pone.0246468.

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To enrich carotenoids, especially β-cryptoxanthin, in juice sac tissues of fruits via molecular breeding in citrus, allele mining was utilized to dissect allelic variation of carotenoid metabolic genes and identify an optimum allele on the target loci characterized by expression quantitative trait (eQTL) analysis. SNPs of target carotenoid metabolic genes in 13 founders of the Japanese citrus breeding population were explored using the SureSelect target enrichment method. An independent allele was determined based on the presence or absence of reliable SNPs, using trio analysis to confirm inhe

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Manela, Citra, Taufik Hidayat, Rika Susanti, and Noverika Windasari. "Genetic Analysis of TPOX, CSF1PO, D3S1358, D8S1179, vWA, D5S818, and TH01 Short Tandem Repeats Loci in Nias Population, Indonesia." Open Access Macedonian Journal of Medical Sciences 10, A (2022): 1089–92. http://dx.doi.org/10.3889/oamjms.2022.9853.

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BACKGROUND: Nias is an island located off the western coast of Sumatra, Indonesia. Nias is situated above the Eurasian and Indo-Australian subduction zone plates. This makes it prone to earthquakes and tsunamis. Genetic analysis and genetic variation of short tandem repeats (STR) locus are not widely known. These data are valuable for individual identification and paternity testing. METHODS: Seven STR loci (TPOX, CSF1PO, D3S1358, D8S1179, vWA, D5S818, and TH01) were analyzed using 25 healthy and unrelated persons Nias population. Allele frequency, power of discrimination (PD), expected heteroz

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Ahn, Se Hwan, Yoomi Park, and Ju Han Kim. "Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants." Genes 15, no. 4 (2024): 521. http://dx.doi.org/10.3390/genes15040521.

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The nomenclature of star alleles has been widely used in pharmacogenomics to enhance treatment outcomes, predict drug response variability, and reduce adverse reactions. However, the discovery of numerous rare functional variants through genome sequencing introduces complexities into the star-allele system. This study aimed to assess the nature and impact of the rapid discovery of numerous rare functional variants in the traditional haplotype-based star-allele system. We developed a new method to construct haplogroups, representing a common ancestry structure, by iteratively excluding rare and

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Khan, Naveed, Ihteshamul Haq та Sajid Ul Ghafoor. "Distribution Pattern of Mutations Causing β-Thalassemia in Districts Swabi and Mansehra, Pakistan". Inkwell Innovations in Life Sciences 1, № 2 (2025): 73–79. https://doi.org/10.63079/iils.01.02.041.

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The present study analyzed 100 alleles from 50 unrelated families from Districts Swabi and Mansehra through ARMS PCR for the nine most common mutations in the gene for β-globin (HBB), reported in Pakistan. In general, 89% of alleles were completely characterized, and 11% remained uncharacterized. More specifically, in samples collected from Swabi, 08% of mutations remained uncharacterized, and 92% were characterized entirely, while in samples from Mansehra, 86% of the total alleles were characterized, and 14% remained uncharacterized. Overall, the IVSI-5 (G>C), with a frequency of 33%, was

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Dotlačil, L., E. Gregová, J. Hermuth, Z. Stehno, and J. Kraic. "Diversity of HMW-Glu Alleles and Evaluation of their Effects on some Characters in Winter Wheat Landraces and Old Cultivars." Czech Journal of Genetics and Plant Breeding 38, No. 3-4 (2012): 109–16. http://dx.doi.org/10.17221/6244-cjgpb.

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Earliness, morphological and agronomic characters and grain quality were studied in 123 European landraces and old cultivars of winter wheat in three-year field experiments. Simultaneously, HMW Glu-alleles were identified in these cultivars by means of SDS-PAGE. Within this set of cultivars 224 Glu-lines (with occurrence over 5% in the cultivar) were identified carrying 3 different allelic combinations at 1A, 10 combinations at 1B and 3 combinations at 1D chromosomes, respectively. Relatively rare were alleles 2* at 1A and 3+12 at 1D as well as alleles 8, 6, 9, 7, 13+16 and 17+ 18 at 1B. Allel

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Abeyrathne, R. M. S. D. L., N. H. L. D. L. D. Nanayakkara, and D. V. Jayatilake. "Allele Mining of Major Gall Midge Resistance Genes <em>gm3, Gm4,</em> Gm8 and Gm11 in Selected Sri Lankan Rice Germplasm." Tropical Agricultural Research 36, no. 2 (2025): 174–80. https://doi.org/10.4038/tar.v36i2.8935.

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Breeding ri ce varieties carrying resistance to rice gall midge (RGM), Orseolia oryzae is a key strategy to reduce yield losses incurred as a result of RGM infestations, globally. Using associated DNA-markers, the study evaluated 55 Sri Lankan ric e accessions (23 traditional (TAs) and 32 newly improved rice varieties (NIVs)) based on their breeding potential t o identify rice accessions carrying resistance alleles at four major RGM resistance genes: gm3, Gm4, Gm8, and Gm11. The allele profiling revealed that none of the rice accessions carried resistance alleles for all four genes and five ac

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Freeth, Allan L., John B. Gibson, and Ann V. Wilks. "Transcription analysis of alcohol dehydrogenase null alleles from natural populations of Drosophila melanogaster." Genome 30, no. 1 (1988): 25–30. http://dx.doi.org/10.1139/g88-005.

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Southern analysis of 19 Adh null activity alleles isolated from Tasmanian populations of Drosophila melanogaster have shown that there are no detectable insertions or deletions in an 11.8-kb region that contains the gene. Northern blot analyses of the null alleles have shown that they all produce a transcript about 100 bases longer than that produced by the normal allele and they accumulate a precursor of 1800 bases. The amount of the major transcript produced by the null alleles is about 10% of that produced by normal alleles. The molecular properties of the null alleles suggest that they sha

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Bekturov, A. В., Zh T. Isakova, V. N. Kipen, et al. "A genogeographic study of the Kyrgyz mountain merino via microsatellite markers." Vavilov Journal of Genetics and Breeding 27, no. 2 (2023): 162–68. http://dx.doi.org/10.18699/vjgb-23-22.

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The aim was to ascertain the genetic and geographical structure of the Kyrgyz mountain merino (KMM). We analyzed DNA samples of 109 Kyrgyz mountain merino specimens, bred in three state breeding factories (STB), including“Orgochor” in the Issykul Province,“Katta-Taldyk” in the Osh Province and STb named after Luschikhin in the Talas Province. We identified 126 alleles in 12 microsatellite markers (McM042, INRA006, McM527, ETH152, CSRD247, OarFCB20, INRA172, INRA063, MAF065, MAF214, INRA005, INRA023). There were 6 to 16 alleles in each locus (mean 10.500 ± 0.957 alleles per locus). We identifie

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Suprovich, T., Т. Karchevska, R. Kolinchuk, and V. Mizyk. "DETERMINATION OF ALLELES OF BOLA-DRB3.2 GENE ASSOCIATED WITH NECROBACTERIOSIS OF THE COWS OF UKRAINIAN BLACK-AND-WHITE DAIRY CATTLE." Animal Breeding and Genetics 51 (March 28, 2018): 205–13. http://dx.doi.org/10.31073/abg.51.28.

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The main objective of research "BoLA and disease" is the need to develop approaches and obtain reliable criteria which would allow to judge about animal genetic predisposition to the disease and about change of its immunological status in the development of pathological process. Genes of class II of main histocompatibility complex have the greatest association to diseases. Now 54 alleles of BoLA-DRB3.2 have been described by PCR-RFLP. The high level of allelic diversity of the gene is caused by necessity of tying a wide range of foreign antigens, which leads to the possibility of its use as a

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