The CFTR gene mild variants poly‐T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens

Summary The aim of the study was to detect the frequency of the CFTR gene variants poly‐T, TG repeats and c.1408A>G p.Met470Val (M470V) in Indian men with congenital bilateral absence of the vas deferens (CBAVD). Men diagnosed with CBAVD (n = 76), their female partners (n = 76) and healthy men from general population (n = 50) were recruited. Genomic DNA was isolated and the polymorphic regions of IVS9‐ c.1210‐12T [5] and M470V were amplified using specific primers followed by Sanger's DNA sequencing. A statistically significant increase in the frequency of heterozygous IVS9‐ c.1210‐12T [5] (39.4%) was observed in CBAVD men as compared to controls (14%). The allelic distribution of c.1210‐12T [5], c.1210‐12T [7] and c.1210‐12T [9] in CBAVD men was 21%, 64.4% and 13% and that in healthy controls was 7%, 73% and 20% respectively. Longest TG repeat c.1210‐34TG [13] was found in association with c.1210‐12T [5] with an allelic frequency of 5.9% in CBAVD men. We found a significant association of c.1210‐34TG [12]/c.1210‐34TG [13] ‐ c.1210‐12[5] –V470 allele in CBAVD men. Twelve female partners harboured a heterozygous c.1210‐12T [5] allele. The study emphasises the need to screen both partners for the polymorphisms M470V, poly‐T, TG tract repeats in addition to population‐specific known CFTR gene mutations.