Analysis of Candidate Genes within a New Disease Locus in Asian Patients with Steroid Resistance Nephrotic Syndrome

点击翻译按钮获取中文摘要

Steroid resistance nephrotic syndrome, characterized by renal histology of focal segmental glomerulosclerosis, is a leading cause of childhood end-stage renal failure. There are a significant ethnic difference in genetic factors underlying autosomal recessive, familial SRNS. Linkage mapping with 17 Asian SRNS families demonstrated a new disease locus with a multi-point LOD score of 5.8 (α=0.7, manuscript in preparation). The candidate interval spans about 3.5Mb, which contains～50 genes. We are currently doing mutational analysis of candidate genes, particularly focusing on those which are specifically enriched in glomeruli