CFTR Gene mutations and Clinical correlation in Indian patients with Congenital Bilateral Absence of the Vas Deferens

Cystic fibrosis (CF) is the most common potentially lethal autosomal recessive disorder. Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. Here we identify different mutations of CFTR and the poly-T variant of intron 8 (IVS8) in Indian patients (Sagar district of MP) and analyze sweat test values and clinical characteristic related to Cystic Fibrosis (CF). For counseling purposes the most frequent possible mutation in Indian population: deltaF508 was screened in wives. Four patients (23%) showed abnormal chloride values (> 60 mmol/l). A second group of 3 patients (18%) had borderline values of sweat chloride (40-59 mmol/l). We defined another group with 3 patients (18%), with normal sweat chloride levels (30-39 mmo/l) and a fourth group of 8 (41%) patients with sweat chloride below 30 mmol/l, delta F508 muation was found in 3 of the 18 patients (16%). On a sample of 14 patients, IVS8 analysis showed a frequency of 6/56 chromosomes (11%) of 5T allele.