{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T06:23:18Z","timestamp":1756189398421,"version":"3.41.2"},"reference-count":29,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,19]],"date-time":"2020-09-19T00:00:00Z","timestamp":1600473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671448","81871152"],"award-info":[{"award-number":["81671448","81871152"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital bilateral absence of vas deferens (CBAVD) is an important disease of male infertility, which affects 1%\u20132% of infertile population. In addition to common mutations of <jats:italic>CFTR<\/jats:italic>, 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 <jats:italic>CFTR<\/jats:italic> CNVs in Chinese Han population with CBAVD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two hundred and sixty\u2010three CBAVD patients were recruited. Genomic DNA was extracted from peripheral blood samples. The Multiplex Ligation\u2010dependent Probe Amplification assay was performed which targets the region of the <jats:italic>CFTR<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 263 Chinese men affected with CBAVD in this study, 5 (1.90%) patients were detected for copy number variants in the region of <jats:italic>CFTR<\/jats:italic> gene (4 of them carried partial deletions and 1 of them carried partial duplication of <jats:italic>CFTR<\/jats:italic> gene).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The study showed that the rate of <jats:italic>CFTR<\/jats:italic> CNVs in Chinese population with CBAVD were basically consistent with the previous reports. And the study first revealed genetic risk of CNVs of <jats:italic>CFTR<\/jats:italic> on a large sample size of CBAVD patients in Chinese Han population, which prompted that it was necessary to detect CNVs of <jats:italic>CFTR<\/jats:italic> in Chinese Han people with CBAVD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1506","type":"journal-article","created":{"date-parts":[[2020,9,20]],"date-time":"2020-09-20T05:51:27Z","timestamp":1600581087000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Analysis of CNVs of <i>CFTR<\/i> gene in Chinese Han population with CBAVD"],"prefix":"10.1002","volume":"8","author":[{"given":"Chengquan","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Urology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences Beijing P. R. China"},{"name":"Graduate School of Peking Union Medical College Beijing P. R. 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