Why aren't recessive genetic diseases eventually purged from a population's gene pool? Researchers at Columbia University sought to shed light on this question by focusing on 417 Mendelian mutation in 32 genes.They created models simulating purifying selection and compared them to the allele frequencies of of a sample of 33,370 European people. They found that CpG transitions occurred at the highest frequency. The answer to this question still remains unclear but the authors note that the frequency of specific mutation types may have an impact on the allele frequencies of Mendelian diseases.
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- Angie
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