Y chromosome structural variation in infertile men detected by targeted next-generation sequencing.

ABSTRACT:

Purpose

To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).

Methods

Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.

Results

A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 1

SUBMITTER: Liu X 

PROVIDER: S-EPMC8079584 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature