scholarly journals STATISTICAL STUDIES ON PROTEIN POLYMORPHISM IN NATURAL POPULATIONS. III. DISTRIBUTION OF ALLELE FREQUENCIES AND THE NUMBER OF ALLELES PER LOCUS

Genetics ◽  
1980 ◽  
Vol 94 (4) ◽  
pp. 1039-1063
Author(s):  
Ranajit Chakraborty ◽  
Paul A Fuerst ◽  
Masatoshi Nei

ABSTRACT With the aim of understanding the mechanism of maintenance of protein polymorphism, we have studied the properties of allele frequency distribution and the number of alleles per locus, using gene-frequency data from a wide range of organisms (mammals, birds, reptiles, amphibians, Drosophila and non-Drosophila invertebrates) in which 20 or more loci with at least 100 genes were sampled. The observed distribution of allele frequencies was U-shaped in all of the 138 populations (mostly species or subspecies) examined and generally agreed with the theoretical distribution expected under the mutation-drift hypothesis, though there was a significant excess of rare alleles (gene frequency, 0 ~ 0.05) in about a quarter of the populations. The agreement between the mutation-drift theory and observed data was quite satisfactory for the numbers of polymorphic (gene frequency, 0.05 ~ 0.95) and monomorphic (0.95 ~ 1.O) alleles.—The observed pattern of allele-frequency distribution was incompatible with the prediction from the overdominance hypothesis. The observed correlations of the numbers of rare alleles, polymorphic alleles and monomorphic alleles with heterozygosity were of the order of magnitude that was expected under the mutation-drift hypothesis. Our results did not support the view that intracistronic recombination is an important source of genetic variation. The total number of alleles per locus was positively correlated with molecular weight in most of the species examined, and the magnitude of the correlation was consistent with the theoretical prediction from mutation-drift hypothesis. The correlation between molecular weight and the number of alleles was generally higher than the correlation between molecular weight and heterozygosity, as expected.

2012 ◽  
Vol 40 (3) ◽  
pp. 71-77 ◽  
Author(s):  
Jean Semé Fils Alexandre ◽  
Phonepadith Xangsayarath ◽  
Morakot Kaewthamasorn ◽  
Kazuhide Yahata ◽  
Jetsumon Sattabongkot ◽  
...  

Genetics ◽  
2000 ◽  
Vol 156 (1) ◽  
pp. 457-467 ◽  
Author(s):  
Z W Luo ◽  
S H Tao ◽  
Z-B Zeng

Abstract Three approaches are proposed in this study for detecting or estimating linkage disequilibrium between a polymorphic marker locus and a locus affecting quantitative genetic variation using the sample from random mating populations. It is shown that the disequilibrium over a wide range of circumstances may be detected with a power of 80% by using phenotypic records and marker genotypes of a few hundred individuals. Comparison of ANOVA and regression methods in this article to the transmission disequilibrium test (TDT) shows that, given the genetic variance explained by the trait locus, the power of TDT depends on the trait allele frequency, whereas the power of ANOVA and regression analyses is relatively independent from the allelic frequency. The TDT method is more powerful when the trait allele frequency is low, but much less powerful when it is high. The likelihood analysis provides reliable estimation of the model parameters when the QTL variance is at least 10% of the phenotypic variance and the sample size of a few hundred is used. Potential use of these estimates in mapping the trait locus is also discussed.


2016 ◽  
Vol 6 (2) ◽  
pp. 178-190
Author(s):  
A. S. Gureyev ◽  
A. A. Kim ◽  
Ye. D. Sanina ◽  
V. I. Shirmanov ◽  
V. A. Koshechkin ◽  
...  

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ngoc Hieu Tran ◽  
Thanh Binh Vo ◽  
Van Thong Nguyen ◽  
Nhat-Thang Tran ◽  
Thu-Huong Nhat Trinh ◽  
...  

Abstract The under-representation of several ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in many populations. Cost and technology limitations remain the challenges in performing large-scale genome sequencing projects in many developing countries, including Vietnam. As one of the most rapidly adopted genetic tests, non-invasive prenatal testing (NIPT) data offers an alternative untapped resource for genetic studies. Here we performed a large-scale genomic analysis of 2683 pregnant Vietnamese women using their NIPT data and identified a comprehensive set of 8,054,515 single-nucleotide polymorphisms, among which 8.2% were new to the Vietnamese population. Our study also revealed 24,487 disease-associated genetic variants and their allele frequency distribution, especially 5 pathogenic variants for prevalent genetic disorders in Vietnam. We also observed major discrepancies in the allele frequency distribution of disease-associated genetic variants between the Vietnamese and other populations, thus highlighting a need for genome-wide association studies dedicated to the Vietnamese population. The resulted database of Vietnamese genetic variants, their allele frequency distribution, and their associated diseases presents a valuable resource for future genetic studies.


2010 ◽  
Vol 112 (12) ◽  
pp. 1302-1307
Author(s):  
Maryam Sadat Daneshpour ◽  
Suad Alfadhli ◽  
Massoud Houshmand ◽  
Sirous Zeinali ◽  
Mehdi Hedayati ◽  
...  

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