The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.
The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.
复制标题
通过“错配”PCR 轻松检测葡萄糖脑苷脂酶的 nt 1226 突变。
DOI：
10.1016/0009-8981(90)90130-k
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发表时间：
1990
期刊：
影响因子：
--
通讯作者：
West,C
中科院分区：
文献类型：
--
作者：
Beutler,E;Gelbart,T;West,C
The most common Gaucher disease-producing mutation among Ashkenazi Jews is an A → G substitution at cDNA nt 1226 (genomic nt 5841). We describe a simple method for detecting this mutation both in genomic DNA and in cDNA by performing polymerase chain reaction (PCR) using a 5'-primer mismatched at one nucleotide so as to create an Xho I restriction site. When the mutation is present, the 105 bp fragment formed is cleaved to 89 and 16 nt fragments. The 89 bp fragment is easily visualized on a gel making it possible to distinguish individuals who do not have the mutation from heterozygotes and homozygotes.
