Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues
نویسندگان
چکیده
منابع مشابه
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.
PURPOSE Screening for mutations in the entire Cystic Fibrosis gene (CFTR) of Brazilian infertile men with congenital absence of vas deferens, in order to prevent transmission of CFTR mutations to offspring with the use of assisted reproductive technologies. METHOD Specific polymerase chain reaction (PCR) primers were designed to each of the 27 exons and splicing sites of interest followed by ...
متن کاملCFTR 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 کاملMutations 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...
متن کاملTesticular CFTR splice variants in patients with congenital absence of the vas deferens.
The involvement of the five thymidine (5T) variant in intron 8 of the cystic fibrosis membrane regulator (CFTR) gene in congenital bilateral absence of the vas deferens (CBAVD) phenotype has been extensively demonstrated. This variant leads to alternative splicing of the CFTR gene which results in a wild-type transcript and one without exon 9. Little is known about expression of the CFTR gene i...
متن کاملMutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations i...
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ژورنال
عنوان ژورنال: Clinics
سال: 2007
ISSN: 1807-5932
DOI: 10.1590/s1807-59322007000400003