title: [An analysis of the mutations in the gene of the mucoviscidosis transmembrane regulator protein (MTRP) in patients with congenital bilateral aplasia of the vas deferens].
abstract: The genetic background of congenital bilateral aplasia of vas deferens (CBAVD) was studied. Eight patients from Ukraine were enrolled in our study. In each case, the clinical diagnosis of CBAVD was confirmed by testicular biopsy. None of patients had other clinical features of CF except high level of sweet Cl. Individuals underwent genetic screening for mutations in CFTR gene. Genomic DNA from six individuals was analysed for the 9 mutations and from two patients for the 20 most common CF mutations in European population. In 3 patients, the mutation identified was delF508 and in 3 patients was found to have the R117H mutation (in all cases one mutation per individual only). Our results confirmed hypothesis that isolated CBAVD is incomplete (genital) form of cystic fibrosis.
authors.forename: N M
authors.initials: NM
authors.lastname: Gusak
authors.forename: N G
authors.initials: NG
authors.lastname: Gorovenko
authors.forename: I I
authors.initials: II
authors.lastname: Gorpinchenko
authors.forename: S O
authors.initials: SO
authors.lastname: Karmeliuk
mesh_terms: D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005832:Genital Diseases, Male / Q000151:congenital / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D014455:Ukraine; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA