The 3120+1G→A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients

被引：15

作者：

Cabello, GMK ^{[1
]}

Cabello, PH

Llerena, J

Fernandes, O

Harris, A

机构：

[1] Fundacao Oswaldo Cruz, Inst Oswaldo Cruz, Dept Genet, Rio De Janeiro, Brazil

[2] Fundacao Oswaldo Cruz, Inst Fernandes Figueira, Ctr Genet Med, Rio De Janeiro, Brazil

[3] Fundacao Oswaldo Cruz, Inst Oswaldo Cruz, Dept Trop Med, Rio De Janeiro, Brazil

[4] Univ Estadao Rio de Janeiro, Dept Patol, Rio De Janeiro, Brazil

[5] Univ Oxford, Inst Mol Med, Oxford, England

来源：

HUMAN BIOLOGY | 2001年 / 73卷 / 03期

关键词：

cystic fibrosis; splicing mutation; SSCP; Brazilian population;

D O I：

10.1353/hub.2001.0031

中图分类号：

Q98 [人类学];

学科分类号：

030303 ;

摘要：

Cystic fibrosis patients from Rio de Janeiro. Brazil. were screened for mutations in exons ii and 16 of the cystic fibrosis transmembrane conductance regulator gent: (CFTR) by a nonradioactive single-stranded conformational polymorphism (SSCP) analysis technique. This procedure was used to evaluate the undefined mutations in one or both alleles of 64 cystic fibrosis patients, Unusual SSCP profiles were investigated further by sequence analysis. Two patients were shown to carry the G542X mutation (exon 11) and five had the splicing mutation 3120+1G -->A (intron 16), one of them being homozygous for the mutation. This is the first report of the 3120+1G -->A mutation in Brazil, where it appears to be a frequent disease-associated molecular alteration in the CFTR gene.

引用

页码：403 / 409

页数：7