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. 2020 Nov;8(11):e1506.
doi: 10.1002/mgg3.1506. Epub 2020 Sep 19.

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

Chengquan Ma  1   2 , Ruyi Wang  2   3 , Tengyan Li  3 , Hongjun Li  1 , Binbin Wang  2   3
Affiliations

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

Chengquan Ma et al. Mol Genet Genomic Med. 2020 Nov.

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 of CFTR gene (4 of them carried partial deletions and 1 of them carried partial duplication of CFTR gene).

Conclusions: The study showed that the rate of CFTR CNVs in Chinese population with CBAVD were basically consistent with the previous reports. And the study first revealed genetic risk of CNVs of CFTR on a large sample size of CBAVD patients in Chinese Han population, which prompted that it was necessary to detect CNVs of CFTR in Chinese Han people with CBAVD.

Keywords: CFTR; Chinese Han population; Congenital bilateral absence of vas deferens; copy number variants.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

FIGURE 1
FIGURE 1
Distribution of copy number variants on CFTR exons. CFTR has 27 exons, 5 patients carried different CNVs. Yellow rectangles symbol duplication. Green rectangles symbol deletion
See this image and copyright information in PMC

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