A population-based study of autosomal-recessive disease-causing mutations in a founder population.

ABSTRACT: The decreasing cost of whole-genome and whole-exome sequencing has resulted in a renaissance for identifying Mendelian disease mutations, and for the first time it is possible to survey the distribution and characteristics of these mutations in large population samples. We conducted carrier screening for all autosomal-recessive (AR) mutations known to be present in members of a founder population and revealed surprisingly high carrier frequencies for many of these mutations. By utilizing the rich demographic, genetic, and phenotypic data available on these subjects and simulations in the exact pedigree that these individuals belong to, we show that the majority of mutations were most likely introduced into the population by a single founder and then drifted to the high carrier frequencies

SUBMITTER: Chong JX 

PROVIDER: S-EPMC3484657 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature