Diagnostics of CFTR-negative patients with congenital bilateral absence of vas deferens: which mutations are of most interest?
نویسندگان
چکیده
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 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 کاملNovel 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 کاملStructural analysis of CFTR gene in congenital bilateral absence of vas deferens.
Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G ...
متن کاملCommon CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly spliced transcripts. Here, we genotyped for common CFTR variants and tested for associations in two IC...
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ژورنال
عنوان ژورنال: Expert Review of Molecular Diagnostics
سال: 2019
ISSN: 1473-7159,1744-8352
DOI: 10.1080/14737159.2020.1707081