Correlation between X-Inactivation of Different Tissues and Phenotypes in Female with X-Linked Alport Syndrome / 实用儿科临床杂志

ABSTRACT

Objective To explore the correlation between phenotypes in female with X-linked Alport syndrome(XLAS) and X-inactivation of different tissues.Methods Thirty-six female diagnosed as XLAS were studied,and proteinuria was taken as a marker of the severity of clinical phenotypes.X-inactivation patterns were analyzed in peripheral blood cells of 36 XLAS female and in skin fibroblasts of 12 XLAS female.The X-inactivation analysis was performed by using Hpa Ⅱ predigestion of DNA followed by polymerase chain reaction(PCR) of the highly polymorphic CAG repeat of the androgen receptor gene.Results The average X-inactivation levels of the mutant allele decreased while the degree of proteinuria increased,so there was a negative correlation between the degree of proteinuria and the X-inactivation ratios of the mutant allele in blood cells(r=-0.543,P=0.002).However,there was no correlation between the degree of proteinuria and the X-inactivation ratios of the mutant allele in skin fibroblasts(r=-0.131,P=0.701).Conclusions X-inactivation ratios might explain partially the diverse phenotypes in XLAS female patients,which suggested that the prognosis of XLAS female might be predicted via analysis of the X-inactivation in peripheral blood cells.