日本人常染色体優性遺伝型多発性嚢胞腎患者における遺伝子異常の解析

概要

論文の詳細を見る
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease causing renal failure. One gene responsible for ADPKD, the PKD1 gene, has been identified and characterized. Many mutations of the PKD1 gene have been reported in the Caucasian population. We searched for disease-causing mutations in the PKD1 gene in the Japanese population, analyzing each exon in the 3' single-copy region of the gene from exon 35 to exon 46 using genomic DNA from 69 patients. Four missense mutations-T3509M, G3559R, R3718Q and R3752W-and one polymorphism (L3753L) were identified. These are novel mutations, three of which were identified in more than two different families. This suggests that these may be "hot spot" mutations in the Japanese population.
東京女子医科大学の論文
2001-04-25