Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD.

ABSTRACT:

Background

Congenital bilateral absence of vas deferens (CBAVD) is an important disease of male infertility, which affects 1%-2% of infertile population. In addition to common mutations of CFTR, copy number variants (CNVs) have also been implicated as one of the pathogenesis of CBAVD. The present study aimed to investigate the genetic contribution of CFTR CNVs in Chinese Han population with CBAVD.

Methods

Two hundred and sixty-three CBAVD patients were recruited. Genomic DNA was extracted from peripheral blood samples. The Multiplex Ligation-dependent Probe Amplification assay was performed which targets the region of the CFTR gene.

Results

Among 263 Chinese men affected with CBAVD in this study, 5 (1.90%) patients were detected for copy number variants in the region

SUBMITTER: Ma C 

PROVIDER: S-EPMC7667304 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature