ArticleMolecular genetics & genomic medicine2020
Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.Asian journal of andrology · 2025Pooled it
- Non pathological sweat test, pancreatic insufficiency and Cystic Fibrosis: an unusual case in a child with F508del-duplication of exons 1-3 CFTR genotype.BMC pediatrics · 2024Article
- Pathogenic Variants and Genotypes of theInternational journal of molecular sciences · 2023Article
- Multicenter Surveillance of Cystic Fibrosis in Korean Children.Allergy, asthma & immunology research · 2022Article
- Loss-of-functionAsian journal of andrologyArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital 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.
methodsTwo 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.
resultsAmong 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).
conclusionsThe 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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