Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD
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 p...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-11-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1506 |
| _version_ | 1797301016037687296 |
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| author | Chengquan Ma Ruyi Wang Tengyan Li Hongjun Li Binbin Wang |
| author_facet | Chengquan Ma Ruyi Wang Tengyan Li Hongjun Li Binbin Wang |
| author_sort | Chengquan Ma |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T23:16:14Z |
| format | Article |
| id | doaj.art-b5c6e79f1a6f4b2880a3d91438a992c9 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:16:14Z |
| publishDate | 2020-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-b5c6e79f1a6f4b2880a3d91438a992c92024-02-21T11:47:09ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-11-01811n/an/a10.1002/mgg3.1506Analysis of CNVs of CFTR gene in Chinese Han population with CBAVDChengquan Ma0Ruyi Wang1Tengyan Li2Hongjun Li3Binbin Wang4Department of Urology Peking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical Sciences Beijing P. R. ChinaGraduate School of Peking Union Medical College Beijing P. R. ChinaCenter for Genetics National Research Institute for Family Planning Beijing P. R. ChinaDepartment of Urology Peking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical Sciences Beijing P. R. ChinaGraduate School of Peking Union Medical College Beijing P. R. ChinaAbstract 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.https://doi.org/10.1002/mgg3.1506CFTRChinese Han populationCongenital bilateral absence of vas deferenscopy number variants |
| spellingShingle | Chengquan Ma Ruyi Wang Tengyan Li Hongjun Li Binbin Wang Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD Molecular Genetics & Genomic Medicine CFTR Chinese Han population Congenital bilateral absence of vas deferens copy number variants |
| 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 | CFTR Chinese Han population Congenital bilateral absence of vas deferens copy number variants |
| url | https://doi.org/10.1002/mgg3.1506 |
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