<i>De novo</i> mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome
Alessandra Renieri(University of Siena), Marco Seri(University of Siena), Jeanne C. Myers(University of Pennsylvania), Taina Pihlajaniemi(University of Oulu), Laura Massella(Ospedale dei Bambini Vittore Buzzi), Gianfranco Rizzoni(Ospedale dei Bambini Vittore Buzzi), Mario Marchi(University of Siena)
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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 alpha 5(IV) chain.
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