O-48: Heterogenous Spectrum of CFTR GeneMutations in Indian Patients with CongenitalAbsence of Vas Deferens

CFTR Mutations in Congenital Absence of Vas Deferens

A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...

evaluation of fat atrophy in patients with dermis fat graft of orbit by ct-scan

چکیده ندارد.

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.

BACKGROUND Clinically affected cystic fibrosis (CF) patients present a spectrum of genital phenotypes ranging from normal fertility to moderately impaired spermatogenesis and congenital bilateral absence of vas deferens (CBAVD). Little is known about the CF incidence in the Taiwanese population. It has been shown that the CBAVD in men without clinical evidence of CF is associated with a high in...

EXPRESSION OF CFTR mRNA IN NASAL EPITHELIUM AND VAS DEFERENS

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.

BACKGROUND Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown. METHODS We investigated 51 Turkish males who had been diagnosed with CBAVD at the Hacettepe Universi...

Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.

Cystic fibrosis (CF) is usually considered a rare disease in the Indian population. Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital absence of the vas deferens (CAVD), however, data on the spectrum of CFTR gene mutations are still lacking. Therefore, the present study was designed to identify...