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.
Conclusion: Some of thin basement membrane nephropathy may be due to mutation of COL4A5 gene.