[Our hidden genetic defects]

Med Sci (Paris). 2021 Jun-Jul;37(6-7):663-670. doi: 10.1051/medsci/2021079. Epub 2021 Jun 28.
[Article in French]

Abstract

A systematic study analysing the exomes of several thousand individuals indicates that each of them carries at least one strongly deleterious mutation that is innocuous in a heterozygote but results in a severe phenotype in the homozygous state. Most of these mutations are very rare, while a few are present in 1 or 2% of the population. The frequency of at-risk couples is approximately 1.5%, but increases dramatically to 25% if the partners of the couple are first cousins. This work has important implications for carrier screening and population genetics in general.

MeSH terms

  • Exome
  • Genetic Carrier Screening
  • Genetic Testing*
  • Heterozygote
  • Homozygote
  • Humans
  • Mutation
  • Phenotype