Genetic abnormalities in premature ovarian failure patients

Abstract

Somatic mosaicism, defined as the presence of different cell populations with distinct genotypes within one individual, caused by post-zygotic errors, has long been considered as a source for human genetic variation within and between individuals. It is also plausible that the presence of large structural mosaic events could have important implications for human diseases. In this study, we provide a genome-wide survey of genetic variation in premature ovarian failure (POF) patients by analyzing SNP array data with a novel algorithmic method that deciphers mosaic structural alterations. We found mosaic aberrations in 8.2% of samples, including 23 mosaic copy number variation (CNV) regions, one mosaic X monosomy and 24 (larger than 1 Mb) mosaic uniparental disomy (UPD) events. In addition, we were able to investigate 23 novel CNVs among patients.