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 language | English |
|---|---|
| Pages (from-to) | 127-129 |
| Number of pages | 3 |
| Journal | Human Molecular Genetics |
| Volume | 1 |
| Issue number | 2 |
| Publication status | Published - May 1992 |
ASJC Scopus subject areas
- Genetics
- Statistics, Probability and Uncertainty
- Applied Mathematics
- Public Health, Environmental and Occupational Health
- Molecular Biology
- Genetics(clinical)
Fingerprint Dive into the research topics of 'De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome'. Together they form a unique fingerprint.
Cite this
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.