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Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients

✍ Scribed by Eileen Boye; Frances Flinter; Jing Zhou; Karl Tryggvason; Martin Bobrow; Ann Harris

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 1019 KB
Volume: 5
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380050303

No coin nor oath required. For personal study only.

✦ Synopsis

A population of 35 Alport syndrome patients, defined by strict diagnostic criteria, was screened for mutations in 23 exons of the COL4A5 gene by SSCP analysis. Mobility shifts were observed in 12 out of 35 patients and were shown to represent genuine mutations. 9 of these were glycine substitutions in the collagenous domain (in exons 20, 25, 26, 29, 31, and 41), 2 were small deletions resulting in frameshifts (in exons 21 and 31), and one was a splice site mutation (in exon 12).

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