| Issue |
Med Sci (Paris)
Volume 37, Number 6-7, Juin-Juillet 2021
|
|
|---|---|---|
| Page(s) | 663 - 670 | |
| Section | Forum | |
| DOI | https://doi.org/10.1051/medsci/2021079 | |
| Published online | 28 June 2021 | |
Nos défauts génétiques cachés
Chroniques génomiques
Our hidden genetic defects
UMR 7268 ADÉS, Aix-Marseille, Université /EFS/CNRS ; CoReBio PACA, case 901, Parc scientifique de Luminy, 13288 Marseille Cedex 09, France
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.
© 2021 médecine/sciences – Inserm
Article publié sous les conditions définies par la licence Creative Commons Attribution License CC-BY (https://creativecommons.org/licenses/by/4.0), qui autorise sans restrictions l'utilisation, la diffusion, et la reproduction sur quelque support que ce soit, sous réserve de citation correcte de la publication originale.
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