A novel COL4A5 gene mutation detected in oars Alport syndrome family

Objective To find out the characteristics of mutations of gene COL4A5 encoding type Ⅳ collagen among X-linked dominant inherited Chinese Alport syndrome patients. Methods Screening for mutations in exon 43 of the COL4A5 gene was performed by polymerase chain reaction (PCR) -denaturing gradient gel electrophoresis(DGGE) analysis in 10 kindreds belong to 7 XD - AS families and 100 normal controls and their genomic DNA were analyzed by the direct sequencing. Results A point mutation was found in one family with substitution of 4142C by T which resulted in the change of the CCG codon for Pro 1314 to the codon for Ser (TCG). 2 male patients and their mother all had such abnormality. Conclusion Abore point mutation is an inherited gene mutation. Refer to the literature, no same gene mutation is reported.