Title: 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)
Authors: Malone, G ×
Haworth, A
Schwarz, MJ
Cuppens, Harry
Super, M #
Issue Date: 1998
Publisher: Wiley-liss
Series Title: Human mutation vol:11 issue:2 pages:152-157
Abstract: 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 navel mutations: Y569D), Q98X, 296+12(T>C), 2261delC, 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 similar to 32% (9/28 chromosomes) and the overall detection rate of CF mutations in this group was similar to 86% (24/28 chromosomes). (C) 1998 Wiley-Liss, Inc.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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