title: CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis.
abstract: As it is well established that an association exists between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis gene mutations, we investigated CFTR(TG)m(T)n polymorphism within a Taiwanese population that exhibits a very low incidence of CF. Sixty-three patients with CBAVD and 86 age-matched normal control subjects were evaluated. Temporal temperature gradient gel electrophoresis was used for CFTR mutational analysis. No major CFTR mutation was found in the patient series. A single prominent CFTR mutation, IVS8-5T, was present; however, (50.8% of 63 cases and 33.3% of 126 alleles), and exhibited a high prevalence of 12 or 13 TG repeats (93.8% of 32 cases and 95.2% of 42 alleles with IVS8-5T). Although these results are similar to those of Japanese CBAVD patients, they are higher than the common frequency (about 21%) found among Caucasian CBAVD patients. The very high percentage (42.9%) of patients with no CFTR mutations is also an ethnic characteristic. We concluded that CBAVD patients from Taiwan, who express a very low incidence of CF, were less affected by CFTR mutations, with the exception of IVS8-5T linked to either 12 or 13 TG repeats, which does exhibit a high prevalence among CBAVD patients tested.
authors.affiliation: School of Medicine, Fu Jen Catholic University, Taipei, Taiwan.
authors.forename: H-S
authors.initials: HS
authors.lastname: Chiang
authors.forename: J-F
authors.initials: JF
authors.lastname: Lu
authors.forename: C-H
authors.initials: CH
authors.lastname: Liu
authors.forename: Y-N
authors.initials: YN
authors.lastname: Wu
authors.forename: C-C
authors.initials: CC
authors.lastname: Wu
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003550:Cystic Fibrosis / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D013624:Taiwan / Q000453:epidemiology; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator