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The Hardy-Weinberg law1–4 presents a mathematical statement that describes the relationship between gene frequencies and genotype frequencies: gene frequencies at a locus in a randomly interbreeding diploid population and population genotype frequencies remain constant from generation to generation if mating is random and mutation, selection, and migration do not occur. The law states a fundamental principle of population genetics that is approximately true for small, and holds with increasing exactness for large populations. Should the frequencies be perturbed for any reason, they will come to the expected equilibrium frequencies after one generation of random mating.
The Hardy-Weinberg law can be used for analytical purposes. It is suitable to test the hypothesis of panmixia and evolutionary stasis. Moreover, it represents a null hypothesis to test in genetic studies. However, according to our personal experience, data for Hardy-Weinberg equilibrium (HWE) calculations in studied populations are not always presented in articles with data on the genotype distributions of biallelic polymorphisms of Mendelian inheritance. In this retrospective survey, we tested in papers published in Gut, if this important and qualifying law was checked in studies investigating genetic polymorphisms between 1998 and April 2003.
We collected genotype distributions published in papers in Gut from 1998 (volume 42) to 2003 (volume 52). Of 2389 total publications, we found 69 where genetic polymorphisms were part of the study. Of these, those articles that fulfilled the following criteria were selected: investigation of biallelic genetic polymorphism with Mendelian inheritance; use of healthy reference population in the study; and availability of genotype distribution data.
We recalculated HWE in each paper and in each study group. For this purpose, we used Arlequin software (http://anthropologie.unige.ch/arlequin/).5,6 The level of statistical significance was set at p<0.05. Deviations from …