De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

Alessandra Renieri, Marco Seri, Jeanne C. Myers, Taina Pihlajaniemi, Laura Massella, Gianfranco Rizzoni, Mario De Marchi

Research output: Contribution to journalArticle

Abstract

Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G→A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the α5(IV) chain.

Original languageEnglish
Pages (from-to)127-129
Number of pages3
JournalHuman Molecular Genetics
Volume1
Issue number2
Publication statusPublished - May 1992

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

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    Renieri, A., Seri, M., Myers, J. C., Pihlajaniemi, T., Massella, L., Rizzoni, G., & De Marchi, M. (1992). De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. Human Molecular Genetics, 1(2), 127-129.