Gaucher氏病是由葡糖脑苷脂酶缺陷引起的一种常染色体隐性遗传病。有多种突变可引起此病,最常见的是其cDNA的第1226位核苷酸(nt 1226)突变。该突变在东欧犹太人中的频率较高。由于该突变不产生限制性酶切点,故给检测带来了困难。虽建立了一些检测此突变的方法,但有不少缺点.作者采用了一种准确、快速检测nt 1226突变的错误配对的(mismatched)聚合酶链反应技术.该法的扩增步骤与常规PCR略同。不同的是扩增时,在基因组DNA和cDNA的突变核苷酸的上 Gaucher’s disease is an autosomal recessive disorder caused by glucocerebrosidase deficiency. There are a number of mutations that can cause the disease, most notably the 1226th nucleotide (nt 1226) mutation in its cDNA. The mutation is more frequent among Eastern European Jews. Because this mutation does not produce restriction enzyme cleavage sites, it is difficult to detect. Although a number of methods have been developed to detect this mutation, there are a number of shortcomings. The authors used a mismatched PCR technique that accurately and rapidly detects nt 1226 mutations. Slightly the same. The difference is when amplified on mutant DNA in genomic DNA and cDNA