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

Eileen Boye*, Frances Flinter, Jing Zhou, Karl Tryggvason, Martin Bobrow, Ann Harris

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

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). © 1995 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)197-204
Number of pages8
JournalHuman mutation
Volume5
Issue number3
DOIs
StatePublished - 1995

Keywords

  • Alport syndrome (AS)
  • COL4A5 Gene
  • Mutation detection
  • Single‐Strand Conformation Polymorphism (SSCP) Analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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