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.
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 sequencing in 35 CBAVD patients. None of the patients had systemic manifestations of cystic fibrosis. Fifty normal subjects were studied as controls.


RESULTS
Mutations/variants in the CFTR gene were found in all CBAVD patients. Five mutations and 10 variants were detected in 35 patients. The most frequent severe mutation was F508del (34.2%) and the most common variant was IVS8-5T (54.2%). Two novel severe mutations (p.E217Gfs*11 and p.A1285V) and four novel variants (pT438A, c.4095+30insCT, c.-737G>A, and c.2909-92A>G) were detected.


CONCLUSIONS
The protocol for identification of mutations in cases of CBAVD in developing countries would have to include a different set of mutations than those reported from western countries.
Sir Ganga Ram Hospital, Guru Gobind Singh Indraprastha University, Kashmere Gate, New Delhi, India. kabirtaurus@yahoo.com
Kabir
K
Sachdeva
Renu
R
Saxena
Abha
A
Majumdar
Sudhir
S
Chadha
Ishwar Chander
IC
Verma
D000328:Adult; D044466:Asian People / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007194:India; D007248:Infertility, Male / Q000151:congenital* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator