Article
Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.
Genetic testing and molecular biomarkers - 1 May 2011
Sachdeva Kabir, Saxena Renu, Majumdar Abha, Chadha Sudhir, Verma Ishwar Chander
Abstract excerpt
BACKGROUND: Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The molecular basis of CBAVD is not completely understood, especially in developing countries. METHODS: We characterized the mutations/variants in the CFTR gene by single strand conformation polymorphism followed by...
Topics
- Adult
- Asian People
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Gene Frequency
- Genetic Variation
- Humans
- India
- Infertility, Male
- Male
- Middle Aged
- Mutation
- Polymorphism, Single-Stranded Conformational