Premium
Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)
Author(s) -
Malone Geraldine,
Haworth Andrea,
Schwarz Martin J.,
Cuppens Harry,
Super Maurice
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:2<152::aid-humu8>3.0.co;2-l
Subject(s) - biology , cystic fibrosis , heteroduplex , genetics , single strand conformation polymorphism , cystic fibrosis transmembrane conductance regulator , gene , microbiology and biotechnology , hum , mutation , art , performance art , art history
We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics laboratories). Of 56 mutations seen in native U.K. CF patients, only DeltaF508, R709X, and 2184insA were detected in the Pakistani patients. Combined SSCP/Heteroduplex analysis, DGGE, and direct DNA cycle sequencing revealed five novel mutations: Y569D, Q98X, 296+12(T>C), 1161delC, and 621+2(T>C), which appear to be specific to Pakistani CF families. In addition, a novel polymorphism, 297‐67(A/C), and three previously described rare mutations, 1525‐1(G>A), R560S, and 1898+1(G>T), were detected. In the 14 Pakistani CF patients from the north west of England, DeltaF508 accounted for ˜32% (9/28 chromosomes) and the overall detection rate of CF mutations in this group was ˜86% (24/28 chromosomes). Hum Mutat 11:152–157, 1998. © 1998 Wiley‐Liss, Inc.