| HRA000257
(Controlled Access)
|
Male infertility extremely affects familial stability and social development; however, little is known about the molecular basis of infertility. The rapid and precise determination of pathogenic mutations for male infertility has always been the pursuit of doctors and scientists, and is also a hotspot and frontier of reproductive biology research. In response to this emerging problem, the applicant carried out a series of work: 1) Participated in the establishment of the human reproductive disease biobank of the University of Science and Technology of China, which is the world's largest collection of testicular tissue of infertile patients (7,695) and sterile families (925); 2) Established the genetic screening platform for male infertility pathogenic mutations identification, which greatly improved the detection rate of candidate pathogenic mutations to 70%; 3) Identified more than 300 candidate pathogenic mutations from patients with spermatogenic disorders and reported the pathogenesis of four mutations. |
