Whole exon sequence of a female human from a PCOS family

PCOS is an endocrine disease with a high incidence in women of childbearing age. As a disease with complex aetiology, PCOS may be caused by the joint action of multiple genes and their mutations or polymorphisms. Traditional case-control studies are prone to bias due to factors such as race, environment, and genetic background affecting the results. As PCOS is a genetically predisposed disease, Studies on the correlation between susceptibility gene loci and disease based on family pedigree can ensure consistency in terms of genetic background, living habits, and environment, eliminating the interference of confounding factors. Therefore, we selected a small sample from this family to study the susceptibility genes of PCOS, which can guide subsequent research to a certain extent. Here, we conducted peripheral blood total exon sequencing was conducted for a three-generation PCOS family to find the susceptibility gene, based on the genetic aetiology of PCOS.