Searchable abstracts of presentations at key conferences on reproductive biology and medicine

ra0001p250 | (1) | WCRB2014

Exome sequencing identified QRICH2 as a candidate gene responsible for stump-tailed sperm defects in Chinese consanguineous male offspring

Yue Huanxun , Sun Dan , Sun Huaqin , Xu Wenming

Introduction: Dysplasia of the fibrous sheath (DFS) and stump-tail sperm is a rare sperm abnormality often associated with parental consanguinity and found to be associated with recessive mode. However, the molecular pathogenesis remain elusive.Material and methods: Whole-exome sequencing was performed in a typical pedygree with two affected brother. Multiple-tissue real time PCR was used to check the expression of QRICH2 in human multiple tissues. Sperm...