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Zhonghua Nan Ke Xue. 2012 Nov;18(11):999-1003.

[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens].

[Article in Chinese]

Author information

1
Department of Reproduction, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China.

Abstract

OBJECTIVE:

To assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator factor (CFTR) in Chinese men with congenital bilateral absence of the vas deferens (CBAVD).

METHODS:

We detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fibrosis Mutation Database.

RESULTS:

Four novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database.

CONCLUSION:

There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.

PMID:
23214250
[Indexed for MEDLINE]
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