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Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD
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 s...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667304/ https://www.ncbi.nlm.nih.gov/pubmed/32951344 http://dx.doi.org/10.1002/mgg3.1506 |
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author | Ma, Chengquan Wang, Ruyi Li, Tengyan Li, Hongjun Wang, Binbin |
author_facet | Ma, Chengquan Wang, Ruyi Li, Tengyan Li, Hongjun Wang, Binbin |
author_sort | Ma, Chengquan |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7667304 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-76673042020-11-20 Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD Ma, Chengquan Wang, Ruyi Li, Tengyan Li, Hongjun Wang, Binbin Mol Genet Genomic Med Original Articles 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. John Wiley and Sons Inc. 2020-09-19 /pmc/articles/PMC7667304/ /pubmed/32951344 http://dx.doi.org/10.1002/mgg3.1506 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Ma, Chengquan Wang, Ruyi Li, Tengyan Li, Hongjun Wang, Binbin Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD |
title | Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD |
title_full | Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD |
title_fullStr | Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD |
title_full_unstemmed | Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD |
title_short | Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD |
title_sort | analysis of cnvs of cftr gene in chinese han population with cbavd |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667304/ https://www.ncbi.nlm.nih.gov/pubmed/32951344 http://dx.doi.org/10.1002/mgg3.1506 |
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