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
en Zh
| WPRIM
| ID: wpr-257002
Biblioteca responsable:
WPRO
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>
Texto completo:
1
Banco de datos:
WPRIM
Asunto principal:
Anomalías Congénitas
/
Conducto Deferente
/
Secuencia de Bases
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Exones
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Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Pueblo Asiatico
/
Alelos
/
Enfermedades Urogenitales Masculinas
/
Genética
/
Genotipo
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Male
Idioma:
Zh
Año:
2012
Tipo del documento:
Article