Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

doi:10.1002/mgg3.1506

. 2020 Nov;8(11):e1506.

doi: 10.1002/mgg3.1506. Epub 2020 Sep 19.

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

Chengquan Ma^{1

2}, Ruyi Wang^{2

3}, Tengyan Li³, Hongjun Li¹, Binbin Wang^{2

3}

Affiliations

¹ Department of Urology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, P. R. China.
² Graduate School of Peking Union Medical College, Beijing, P. R. China.
³ Center for Genetics, National Research Institute for Family Planning, Beijing, P. R. China.

PMID: 32951344
PMCID: PMC7667304
DOI: 10.1002/mgg3.1506

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

Chengquan Ma et al. Mol Genet Genomic Med. 2020 Nov.

. 2020 Nov;8(11):e1506.

doi: 10.1002/mgg3.1506. Epub 2020 Sep 19.

Authors

Chengquan Ma^{1

2}, Ruyi Wang^{2

3}, Tengyan Li³, Hongjun Li¹, Binbin Wang^{2

3}

Affiliations

¹ Department of Urology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, P. R. China.
² Graduate School of Peking Union Medical College, Beijing, P. R. China.
³ Center for Genetics, National Research Institute for Family Planning, Beijing, P. R. China.

PMID: 32951344
PMCID: PMC7667304
DOI: 10.1002/mgg3.1506

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.

Keywords: CFTR; Chinese Han population; Congenital bilateral absence of vas deferens; copy number variants.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

**FIGURE 1**
Distribution of copy number variants on CFTR exons. CFTR has 27 exons, 5 patients carried different CNVs. Yellow rectangles symbol duplication. Green rectangles symbol deletion

See this image and copyright information in PMC

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References

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1. Chevalier‐Porst, F. , & Bozon, D. (2000). Retrieved from www.genet.sickkids.on.ca/MutationDetailPage.external?sp=1106
1. Chillón, M. , Casals, T. , Mercier, B. , Bassas, L. , Lissens, W. , Silber, S. , … Estivill, X. (1995). Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. The New England Journal of Medicine, 332(22), 1475–1480. 10.1056/nejm199506013322204 - DOI - PubMed
1. Costantino, L. , Rusconi, D. , Claut, L. , Colombo, C. , Novara, F. , Paracchini, V. , … Seia, M. (2011). A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis. Journal of Cystic Fibrosis, 10(6), 412–417. 10.1016/j.jcf.2011.06.007 - DOI - PubMed
1. Férec, C. , Casals, T. , Chuzhanova, N. , Macek, M. , Bienvenu, T. , Holubova, A. , … Chen, J.‐M. (2006). Gross genomic rearrangements involving deletions in the CFTR gene: Characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta‐analysis of the underlying mechanisms. European Journal of Human Genetics : EJHG, 14(5), 567–576. 10.1038/sj.ejhg.5201590 - DOI - PubMed

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[1] Cai, H. , Qing, X. , Niringiyumukiza, J. D. , Zhan, X. , Mo, D. , Zhou, Y. , & Shang, X. (2019). CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): A systematic review and meta‐analysis of observational studies. Genetics in Medicine, 21(4), 826–836. 10.1038/s41436-018-0262-7 - DOI - PMC - PubMed

[2] Cai, H. , Qing, X. , Niringiyumukiza, J. D. , Zhan, X. , Mo, D. , Zhou, Y. , & Shang, X. (2019). CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): A systematic review and meta‐analysis of observational studies. Genetics in Medicine, 21(4), 826–836. 10.1038/s41436-018-0262-7 - DOI - PMC - PubMed

[3] Chevalier‐Porst, F. , & Bozon, D. (2000). Retrieved from www.genet.sickkids.on.ca/MutationDetailPage.external?sp=1106

[4] Chevalier‐Porst, F. , & Bozon, D. (2000). Retrieved from www.genet.sickkids.on.ca/MutationDetailPage.external?sp=1106

[5] Chillón, M. , Casals, T. , Mercier, B. , Bassas, L. , Lissens, W. , Silber, S. , … Estivill, X. (1995). Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. The New England Journal of Medicine, 332(22), 1475–1480. 10.1056/nejm199506013322204 - DOI - PubMed

[6] Chillón, M. , Casals, T. , Mercier, B. , Bassas, L. , Lissens, W. , Silber, S. , … Estivill, X. (1995). Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. The New England Journal of Medicine, 332(22), 1475–1480. 10.1056/nejm199506013322204 - DOI - PubMed

[7] Costantino, L. , Rusconi, D. , Claut, L. , Colombo, C. , Novara, F. , Paracchini, V. , … Seia, M. (2011). A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis. Journal of Cystic Fibrosis, 10(6), 412–417. 10.1016/j.jcf.2011.06.007 - DOI - PubMed

[8] Costantino, L. , Rusconi, D. , Claut, L. , Colombo, C. , Novara, F. , Paracchini, V. , … Seia, M. (2011). A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis. Journal of Cystic Fibrosis, 10(6), 412–417. 10.1016/j.jcf.2011.06.007 - DOI - PubMed

[9] Férec, C. , Casals, T. , Chuzhanova, N. , Macek, M. , Bienvenu, T. , Holubova, A. , … Chen, J.‐M. (2006). Gross genomic rearrangements involving deletions in the CFTR gene: Characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta‐analysis of the underlying mechanisms. European Journal of Human Genetics : EJHG, 14(5), 567–576. 10.1038/sj.ejhg.5201590 - DOI - PubMed

[10] Férec, C. , Casals, T. , Chuzhanova, N. , Macek, M. , Bienvenu, T. , Holubova, A. , … Chen, J.‐M. (2006). Gross genomic rearrangements involving deletions in the CFTR gene: Characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta‐analysis of the underlying mechanisms. European Journal of Human Genetics : EJHG, 14(5), 567–576. 10.1038/sj.ejhg.5201590 - DOI - PubMed

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Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

Affiliations

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

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Cited by

References

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Supplementary concepts

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Abstract

Conflict of interest statement

Figures

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References

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