日本家庭PKD1基因3′区突变分析

Ken Tsuchiya , Masami Komeda , Maki Takahashi , Norimasa Yamashita , Maho Cigira , Toshiaki Suzuki , Keiko Suzuki , Hiroshi Nihei , Toshio Mochizuki
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引用次数: 9

摘要

常染色体显性多囊肾病(ADPKD)是一种广泛存在的遗传性疾病,可导致肾功能衰竭。其中一种导致这种疾病的基因PKD1已被确定并表征。在高加索人群中发现了许多PKD1基因突变。我们调查了日本人群中该基因突变的发生情况。我们使用基于pcr的直接测序方法,分析了69例患者基因组DNA中35 - 46外显子之间基因3 '单拷贝区域的每个外显子。检测到4个错义突变(T3509M、G3559R、R3718Q、R3752W)、1个缺失突变(11307del61bp)和1个多态性(L3753L),并通过等位基因特异性寡核苷酸(ASO)杂交证实了它们的存在。除了R3752W外,这些都是新的突变,其中三个突变在两个以上的家族中被发现。首次报道了日本人群中PKD1基因的突变分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mutational analysis within the 3′ region of the PKD1 gene in Japanese families

Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that causes renal failure. One of the genes that is responsible for this disease, PKD1, has been identified and characterized. Many mutations of the PKD1 gene have been identified in the Caucasian population. We investigated the occurrence of mutations in this gene in the Japanese population. We analyzed each exon in the 3′ single copy region of the gene between exons 35 and 46 in genomic DNA obtained from 69 patients, using a PCR-based direct sequencing method. Four missense mutations (T3509M, G3559R, R3718Q, R3752W), one deletion mutation (11307del61bp) and one polymorphism (L3753L) were identified, and their presence confirmed by allele-specific oligonucleotide (ASO) hybridization. These were novel mutations, except for R3752W, and three of them were identified in more than two families. Mutation analysis of the PKD1 gene in the Japanese population is being reported for the first time.

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