Reported CCR5-∆32 deviation from Hardy-Weinberg equilibrium is explained by poor genotyping of rs62625034

AbstractIn the fall of 2018, news broke about a researcher from China who had used CRISPR gene editing to cause human babies to have a deletion in the CCR5 chemokine receptor, making them resistant to HIV infection. One of the numerous ethical concerns about this study is that the deletion may have other effects. Subsequently, Nature Medicine published a Brief Communications from Wei and Nielsen concluding that homozygotes for the CCR5-∆32 deletion have a survival probability to age 76 of 83.5% compared to 86.5% and 86.4% for the heterozygotes and the other homozygote, respectively, and that observed departures from Hardy Weinberg proportions also support selection operating on this allele1. In the study, Wei and Nielsen used a proxy variant, rs62625034 in their analysis. Here, we report that the reported CCR5-∆32 deviation from Hardy-Weinberg equilibrium (HWE) inferred by Wei and Nielsen can be explained by poor genotyping of rs62625034, the variant used for their analysis.

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Enzyme polymorphism in Schistosoma mattheei from cattle in the Eastern Transvaal Lowveld

Journal of Helminthology ◽

10.1017/s0022149x0000897x ◽

1989 ◽

Vol 63 (3) ◽

pp. 191-196 ◽

Cited By ~ 3

Author(s):

F. J. Kruger

Keyword(s):

Adult Worm ◽

Malate Dehydrogenase ◽

Enzyme Polymorphism ◽

The Other ◽

Enzyme Electrophoresis ◽

Weinberg Equilibrium ◽

Hardy Weinberg Equilibrium ◽

Glucose 6 Phosphate Dehydrogenase

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 alleles. However, these alleles were not in equilibrium. In certain populations, heterozygotes occurred together with homozygotes of one of the alleles only. PGM was monomorphic in all the populations studied.

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Genetic Differentiation among Populations of the Northern Redbelly Dace (Phoxinus eos) in Ontario

Canadian Journal of Fisheries and Aquatic Sciences ◽

10.1139/f94-122 ◽

1994 ◽

Vol 51 (6) ◽

pp. 1218-1228 ◽

Cited By ~ 4

Author(s):

C. Anna Toline ◽

Allan J. Baker

Keyword(s):

Gene Flow ◽

Genetic Differentiation ◽

Fish Species ◽

Protein Electrophoresis ◽

The Other ◽

Population Divergence ◽

Average Heterozygosity ◽

Weinberg Equilibrium ◽

Hardy Weinberg Equilibrium ◽

Population Substructuring

Eighteen populations of northern redbelly dace (Phoxinus eos) from three regions in Ontario were examined genetically using protein electrophoresis. Differentiation among regions was greater (FST = 0.100) than within them (FST = 0.045–0.064), suggesting that levels of gene flow are high enough to prevent differentiation through drift only within regions. Levels of heterozygosity, percent polymorphic loci, and number of alleles per locus are high relative to other fish species, which suggests that populations of dace in this study have not been subject to severe bottlenecks. Thus, population divergence has apparently occurred gradually over the last 10 000 yr. Average heterozygosity was not correlated with pond area. Thus, populations in Algonquin Park are not more prone to the effects of drift than those in the other two regions. Populations from the Sudbury region were genetically differentiated from those in Algonquin Park and from near Kingston, a result consistent with the historical biogeography of Ontario. Despite relatively high levels of heterozygosity, observed levels in this study deviated significantly from those expected from Hardy–Weinberg equilibrium. The breeding biology of P. eos and other fish suggests that our results may be explained by the presence of population substructuring in the localities sampled.

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