Genotypes of autosomal dominant polycystic kidney disease in Japanese |
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| Authors: | M Mizoguchi T Tamura A Yamaki E Higashihara Y Shimizu |
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| Institution: | (1) School of Health Sciences, Tokai University, Isehara, Japan, JP;(2) School of Medicine, Kyorin University, Mitaka, Tokyo, Japan, JP;(3) School of Health Sciences, Kyorin University, 473 Miyashita, Hachioji, Tokyo 192-8508, Japan Tel. +81-426-920319; Fax +81-426-920319 e-mail: yshimizu@kyorin-u.ac.jp, JP |
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| Abstract: | Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. The prevalence of the
ADPKD genotype in the Caucasian and Latin populations has been reported. Here, we used linkage analysis to demonstrate the
prevalence of the genotype and the correlation between phenotypes and genotypes among 21 Japanese ADPKD families consisting
of 96 individuals and including 57 affected members. Six polymorphic markers, each linked to either the polycystic kidney
disease 1 (PKD1) or polycystic kidney disease 2 (PKD2) gene, were used for polymerase chain reaction analysis. Seventeen families (81%) showed linkage to PKD1, two families (10%) showed linkage to PKD2, and two families did not show linkage to either PKD1 or PKD2. One of the PKD1-linked families was indicated to have different mutations of PKD1 gene in the same family. PKD2-linked families did not have milder symptoms than PKD1-linked families.
Received: October 9, 2001 / Accepted: November 9, 2001 |
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| Keywords: | ADPKD Genotype Linkage study Polymorphism PKD1 PKD2 |
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