Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens / 中华男科学杂志
National Journal of Andrology
;
(12): 999-1003, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-257002
ABSTRACT
<p><b>OBJECTIVE</b>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).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Congenital Abnormalities
/
Vas Deferens
/
Base Sequence
/
Exons
/
Cystic Fibrosis Transmembrane Conductance Regulator
/
Asian People
/
Alleles
/
Male Urogenital Diseases
/
Genetics
/
Genotype
Type of study:
Diagnostic study
Limits:
Humans
/
Male
Language:
Chinese
Journal:
National Journal of Andrology
Year:
2012
Type:
Article
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