[一种新方法检测亚甲基四氢叶酸还原酶（MTHFR）基因突变：分子信标]
[Detecting MTHFR gene mutation with a new approach: molecular beacons].
作者信息
Jiang Bao-qin, Zhu Guo-ming, Yu Jin-hua, Bao Qing-qiu, Xu Mei
机构信息
Weifang People's Hospital, Weifang, Shandong, 261041 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):436-7.
OBJECTIVE
To detect the methylenetetrahydrofolate reductase(MTHFR) gene C677T mutation with molecular beacon technique and assess the revant applicability.
METHODS
A total of 228 samples were analyzed using molecular beacons which are oligonucleotide probes to become fluorescent upon hybridization. Wild-type molecular beacon and mutant beacon were designed to detect the genotypes of MTHFR gene.
RESULTS
Analysis of the 228 samples indicated that there were three genotypes including 41 homozygous mutants, 113 heterozygous individuals and 74 wild-type individuals. Every sample was identified clearly.
CONCLUSION
The present method, a closed-tube PCR/hybridization assay, is a simple, high-throughput and fast procedure that is fully automated for detecting gene mutation.
目的
采用分子信标技术检测亚甲基四氢叶酸还原酶（MTHFR）基因C677T突变，并评估其相关适用性。
方法
使用分子信标对总共228个样本进行分析，分子信标是一种寡核苷酸探针，杂交时会发出荧光。设计野生型分子信标和突变型信标以检测MTHFR基因的基因型。
结果
对228个样本的分析表明存在三种基因型，包括41个纯合突变体、113个杂合个体和74个野生型个体。每个样本都被清晰鉴定。
结论
本方法为闭管PCR/杂交检测法，是一种简单、高通量且快速的程序，可全自动检测基因突变。
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