Identification of Male Infertility Pathogenic Mutations Based on Family Whole Exome Sequencing Data
Objective:To identify the genetic factors causing male infertility by whole exome sequencing(WES).Methods:Clinical phenotype information of patients is collected,and blood samples of patients and family members are sequenced.Genetic screening is performed by homozygous segment analysis,population frequency and harmfulness prediction to identify possible pathogenic mutations,and the pathogenicity of mutations is determined by analysis of interspecies sequence conservation and protein structure prediction.Results:WES sequencing results show that the homozygous missense mutation(TERB2:p.95 Lys＞Asn)carried by telomere repeat binding bouquet formation protein 2(TERB2)gene is a potential pathogenic mutation,which led to the loss of its interaction with TERB1 and meiosis arrest.Conclusion:In this study,the missense mutation of TERB2 gene is successfully identified as a pathogenic mutation in patients with azoospermia through WES technology,indicating that WES technology can be applied to the genetic diagnosis of male infertility,and TERB2 gene can be used as a diagnostic target.
NETL
NSTL
万方数据
维普
