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Screening for cystic fibrosis gene mutations by multiplex DNA amplification

✍ Scribed by Luigi Picci; Franca Anglani; Maurizio Scarpa; Franco Zacchello

Book ID: 104669243
Publisher: Springer
Year: 1992
Tongue: English
Weight: 919 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00219343

No coin nor oath required. For personal study only.

✦ Synopsis

We have developed a simple rapid DNA screening test that allows us simultaneously to analyze seven CF mutations (delta F508, R347P, S549N, G551D, R553X, R334W, 444delA) that together account for about 60% of all CF mutations in the Italian population. It consists of three steps: multiplex polymerase chain reaction (PCR) amplification of exons 4, 7, 10 and 11; restriction endonuclease digestion of the PCR products; and vertical polyacrylamide gel electrophoresis analysis. We have used our multiplex assay for analyzing 15 CF chromosomes (non delta F508) and have found 3 cases of the R553X mutation; the latter have been confirmed by amplification and digestion of exon 11.

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