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© 1992 Oxford University Press

OTHER

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

Alessandra Renieri, Marco Seri, Jeanne C. Myers1, Taina pihlajaniemi2, Laura Massella3, Gianfranco Rizzoni3 and Mario De Marchi*

Cattedra di Genetic Medica, Dipartimento di Biologia Molecolare, Università di Siena 53100 Italy 1Department of Biochemistry and Biophysics, University of Pennsylvania Philadelphia, PA 19104-6059, USA 2Collagen Research Unit, Biocenter and Department of Medical Biochemistry, University of Oulu SF-90220, Finland 3Division di Netrologia e Dialisi, Ospedale Bambin Gesù, Istituto di Ricovero e Cura a Carattere Scientifico 00165 Rome, Italy

*To whom correspondence should be addressed

Received January 9, 1992; 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{uparrow} 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 {alpha}5(IV) chain.


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