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Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations

✍ Scribed by L. Bisceglia; A. Grifa; L. Zelante; P. Gasparini

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 384 KB
Volume: 4
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380040208

No coin nor oath required. For personal study only.

✦ Synopsis

A strategy is described that allows a rapid and accurate identification and screening of cystic fibrosis gene mutations. It consists of setting up and developing RNA single strand conformation polymorphism (rSSCP) protocols, a technique based on the large repertoire of secondary structure of singlestranded RNA. By incorporating the T7 phage promoter sequence into PCR primers, it is possible to carry out rSSCP and compare it to standard singleestrand conformation polymorphism (SSCP). Several parallel tests indicate that rSSCP detects a higher fraction of single base changes, and is less time consuming than SSCP since it requires only one fairly short electrophoretic run. Using this technique we were able to identify two new splicing mutations in introns 5 (711 +5G+A) and 10 ( 1 7 1 7 -8 G A ) of the CFTR gene. o 1994 WiIeyLiss, Inc.

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