Document Detail


[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens].
MedLine Citation:
PMID:  23214250     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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.
Authors:
Qiang Du; Yuan-Yuan Fang; Yong-Feng Pan; Bo-Chen Pan; Yong-Sheng Song; Bin Wu
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Zhonghua nan ke xue = National journal of andrology     Volume:  18     ISSN:  1009-3591     ISO Abbreviation:  Zhonghua Nan Ke Xue     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-12-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101093592     Medline TA:  Zhonghua Nan Ke Xue     Country:  China    
Other Details:
Languages:  chi     Pagination:  999-1003     Citation Subset:  IM    
Affiliation:
Department of Reproduction, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China.
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