Detection of promoter region of CFTR gene in Chinese congenital bilateral absence of vas deferens

Abstract

To detect the variants in the promoter region of the CFTR gene in congenital bilateral absence of vas deferens (CBAVD). A total of 11 CBAVD patients and 50 healthy men as control were enrolled in the study from May 2013 to January 2015. Sanger sequencing was performed in the promoter region of 3.8 kb of the CFTR gene on the PCR products. The genome sequence of the CFTR gene was compared and analyzed with the website of NCBI and Cystic Fibrosis Mutation Database. Also, Transfac and phylogenetic footprinting method was used to investigate the relationship between the promoter region variants and the transcription factors function components. SNP of c.-8G > C (n = 1) and c.-966T > G (n = 7), as well as one single nucleotide variant of c.-195C > A (n = 1) were identified in the promoter region of the CBAVD patients, of which c.-195C > A was in the conserved domains of the promoter region. A single nucleotide variant within the conserved region of CFTR promoter is detected in Chinese CBAVD. And further functional study should be performed to explore the relationship between the variants in CFTR promoter and Chinese CBAVD.