Interesting Updates About the Cystic Fibrosis Gene

It is known that mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital absence of the vas deferens alone (CAVD; affected individuals have specific mutations of the CFTR gene without cystic fibrosis). Researchers in Portugal used a serial screening technique for detecting mutations in 45 patients with CAVD without cystic fibrosis (CF) and successfully characterized a higher CFTR mutation detection rate (93%) than previously reported in patients with CAVD alone. These findings provide opportunities for improved carrier screening and prenatal diagnosis.

In another study, researchers at Johns Hopkins University found that certain polymorphisms in the genes for tumor necrosis factor-α (TNFα-238) and…