HRA000257
Title:
The molecular basis of male infertility
Release date:
2020-07-30
Description:
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.
Data Accessibility:   
Controlled access Request Data
BioProject:
Study type:
Disease Study
Disease name:
male infertility
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
DAC name:
male infertility research team
Contact person:
Zhang Yuanwei
Email:
zyuanwei@ustc.edu.cn
Description:
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.
Individuals & samples
Submitter:   Zhang Yuanwei / zyuanwei@ustc.edu.cn
Organization:   University of Science and Technology of China
Submission date:   2020-07-30
Requests:   -