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Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G

✍ Scribed by Dominique Bozon; Julian Zielenski; Frauke Rininsland; Lap-Chee Tsui

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 347 KB
Volume: 3
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380030329

No coin nor oath required. For personal study only.

✦ Synopsis

sible for CF was cloned and the most prevalent mutation (AF508) identified Kerem et al., 1989) over 300 different mutations in the CF transmembrane conductance regulator (CFTR) gene have been reported to the Cystic Fibrosis Genetic Analysis Consortium (Tsui, 1992a,b). By analysing DNA changes in CFTR gene from CF chromosomes representing the Canadian population we identified four new mutations: I148T in exon 4; a complex frameshift mutation in exon 13; 2183AA-G; L1077P and Y1092X in exon 17b.

All mutations reported here were detected and characterized by direct sequencing of PCR-amplified DNA segments corresponding to exons, 4, 13, and 17b of CFTR gene. Primers and reaction conditions for PCR-amplification of the analyzed exons were reported before .

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