Potential role of cystic fibrosis genetic modifier factors in congenital bilateral absence of the vas deferens
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منابع مشابه
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...
متن کاملO-48: Heterogenous Spectrum of CFTR GeneMutations in Indian Patients with CongenitalAbsence of Vas Deferens
Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...
متن کاملGenetic findings in a child with deferential abnormalities. From surgery to clinical genetics
A male 14 months old had deferential abnormalities during orchidopexy. The genetic study demonstrate cystic fibrosis (∆F508 / ∆F508). A literature review of the genetic alterations observed in patients with congenital unilateral and bilateral absence of the vas deferens was underwent as well as the role of cystic fibrosis trans membrane conductance regulator gene on fertility.
متن کاملP-192: The Study of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Polymorphisms in Iranian Patients with Mayer Rokitansky Kuster Hauser Syndrome
Background: Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5,000 females. It is caused by a failure of deve...
متن کاملDetection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
BACKGROUND Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene have been widely detected in infertile men with congenital bilateral absence of the vas deferens (CBAVD). Despite extensive analysis of the CFTR gene using varied screening methods, a number of cases remain unsolved and could be attributable to the presence of large gene rearrangements, as recently ...
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