Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

ABSTRACT:

Objectives

At present, most genetic tests or carrier screening are performed with blood samples, and the known carrier rate of disease-causing variants is also derived from blood. For semen donors, what is really passed on to offspring is the pathogenic variant in their sperm. This study aimed to determine whether pathogenic variants identified in the sperm of young semen donors are also present in their blood, and whether matching results for blood are consistent with results for sperm.

Methods

We included 40 paired sperm and blood samples from 40 qualified semen donors at the Hunan Province Human Sperm Bank of China. All samples underwent exome sequencing (ES) analysis, and the pathogenicity was assessed according to the American College of Medical Genetics (ACMG) guidelin

SUBMITTER: Huang C 

PROVIDER: S-EPMC11721621 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature