Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder.
Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder.
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通过彩色 PCR 检测戈谢病的 1226（犹太）突变。
DOI：
10.1093/ajcp/93.6.788
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发表时间：
1990
影响因子：
3.5
通讯作者：
Beutler,E
中科院分区：
文献类型：
--
作者：
Zimran,A;Kuhl,WC;Beutler,E
作者应用基于聚合酶链式反应 (PCR) 的颜色互补测定来快速检测葡萄糖脑苷脂酶基因的 1226（“犹太”）突变。研究人员对 57 名无关的戈谢病患者和 50 名无关的正常德系犹太人志愿者进行了研究。在超过 75% 的犹太戈谢病等位基因以及 50 名正常犹太志愿者中的 4 名（8%）中发现了这种突变。该技术的可靠性通过 DNA 测序和白细胞 β-葡萄糖苷酶测定得到验证。该方法被认为是最简单、最适合大规模筛查戈谢病 1226 突变的方法
The authors applied the polymerase chain reaction- (PCR) based color complementation assay for rapid detection of the 1226 (”Jewish”) mutation of the glucocerebrosidase gene. Fifty-seven unrelated patients with Gaucher's disease and 50 unrelated normal Ashkenazi Jewish volunteers were studied. This mutation was identified in more than 75% of the Jewish Gaucher's disease alleles and in 4 (8%) of the 50 normal Jewish volunteers. The reliability of the technique was verified both by DNA sequencing and by leukocyte beta-glucosidase assay. This method is suggested as the simplest and most suitable one for a large-scale screening for the 1226 mutation for Gaucher's disease