Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.

ABSTRACT:

Background

Non-obstructive azoospermia (NOA) is a severe form of male infertility, affecting 10-20% of azoospermic men. Although some NOA genes have been identified, the genetic causes of spermatogenesis failure in NOA remain unclear. This study aimed to identify and characterize genes and mutations associated with NOA.

Methods

Thirty NOA patients were selected for whole-exome sequencing (WES). Patients with chromosomal abnormalities, chromosome copy number issues, or Y chromosome microdeletions were excluded. Relevant genes and mutations in NOA patients were comprehensively screened using WES, MutationTaster software, and related databases. Sequencing results were analyzed for allele screening, mutation deleteriousness, and mutation site prediction to identify potential NOA

SUBMITTER: Yao W 

PROVIDER: S-EPMC12076239 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature