[Thin basement membrane nephropathy: a mutation in COL4A5 gene].
OBJECTIVE
To investigate the mutations in COL4A5 in 3 X-linked thin basement membrane nephropathy families.


METHODS
PCR-SSCP analysis were used for 51 exons of COL4A5 gene. If bands shift were found, then automated sequencing was performed after cloning in pGEM-T easy vectors.


RESULTS
In one of the three families a glycine to alanine substitution was identified in the collagenous region of the COL4A5 gene, and the mutation cosegregates with hematuria in this family.


CONCLUSIONS
Some of thin basement membrane nephropathy may be due to mutation of COL4A5 gene.
Chen
Y
Y
Department of Nephrology, Peking University First Hospital, Beijing 100034, China.
Zhu
S
S
Zhang
Y
Y
D000293:Adolescent; D000328:Adult; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D015433:Glomerulonephritis, Membranous / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D024141:Collagen Type IV