In the invention, two new mutations of two
disease-causing genes relative to Alport syndrome are identified through an
exon sequencing method. The inventor, by employing two ATS families as research objects, particularly performs
exon sequencing and comparison respectively to diseased individuals and non-diseased individuals in the two ATS family and finds a frame shift
deletion mutation (c.3213delA,p.Lys1071fs*5) on a COL4A4
gene of one family and a frame shift
deletion mutation (c499delC,p.Pro167Glnfs*36) on a COL4A5
gene of the other family, wherein the two frame shift deletion locus are actual
disease-causing locus of the two families. On the basis of above, the invention provides a
mutant COL4A4
gene and a
mutant COL4A5 gene, encoded
protein and application thereof and includes carriers, host cells and kits of the
mutant COL4A4 gene and / or the mutant COL4A5 gene. By means of the mutant COL4A4 gene and / or the mutant COL4A5 gene, molecular diagnosis and diseasing
risk evaluation of the Alport syndrome can be carried out. The two mutant genes and the encoded proteins thereof also can be used as
medicine targets for treating the Alport syndrome.