Analysis of 31 CFTR mutations in 55 families from the South of Spain

被引：6

作者：

Gómez-Llorente, MA

Suarez, A

Gómez-Llorente, C

Muñoz, A

Arauzo, M

Antunez, A

Navarro, M

Gil, A

Gómez-Capilla, JA ^{[1
]}

机构：

[1] Univ Granada, Dept Biochem & Mol Biol, Granada 18012, Spain

[2] Univ Sevilla, Dept Pediat, Seville, Spain

[3] Univ San Cecilio Hosp, Biochem Lab, Granada, Spain

来源：

EARLY HUMAN DEVELOPMENT | 2001年 / 65卷

关键词：

cystic fibrosis; mutations; capillary electrophoresis;

D O I：

10.1016/S0378-3782(01)00218-3

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

We carried out a molecular analysis of 350 chromosomes from 55 families originating from the South of Spain (Andalucia) who were diagnosed with cystic fibrosis (CF). We used polymerase chain reaction, followed by an oligonucleotide ligation assay (OLA) and sequence-coded separation using capillary electrophoresis. A frequency of 43.5% for DeltaF508 was found, making it the most common CF mutation in our sample. Seven more mutations (G542X, R334W, R1162X, 2789 + 5G-->A, R117H, Delta1507 and W1282X) were detected and accounted for 24.7% of them total. The remaining mutations (31.8%) were undetectable with the methodology used in this study. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：S161 / S164

页数：4

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