| Summary: | 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.
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