Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens.
- Author:
Qiang DU
1
;
Yuan-Yuan FANG
;
Yong-Feng PAN
;
Bo-Chen PAN
;
Yong-Sheng SONG
;
Bin WU
Author Information
- Publication Type:Journal Article
- MeSH: Alleles; Asian Continental Ancestry Group; genetics; Base Sequence; Cystic Fibrosis Transmembrane Conductance Regulator; genetics; Exons; Genotype; Humans; Male; Male Urogenital Diseases; genetics; Mutation; Vas Deferens; abnormalities
- From: National Journal of Andrology 2012;18(11):999-1003
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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).
METHODSWe 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.
RESULTSFour 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.
CONCLUSIONThere are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.
