摘要
目的 研究分子灯塔技术检测 N5、N10 -亚甲基四氢叶酸还原酶 (methylenetetrahydrofolatereductase,MTH FR)基因 C677T突变的可行性。方法 针对野生型和突变型 MTH FR基因分别设计分子灯塔 (荧光 -淬灭修饰探针 ) ,检测 2 2 8例标本 N5 ,N10 -亚甲基四氢叶酸还原酶基因 C677T突变情况。结果 发现 MTHFR基因型有 3种 ,即纯合子突变 (TT型 )、杂合子突变 (CT型 )和野生型 (CC型 ) ,其基因型频率分别为 18.0 %、49.5%和 3 2 .5%。每例标本均可明确鉴定其基因型。结论 分子灯塔技术是一种能够高度特异性、高通量、高度自动化检测 MTH FR基因突变的技术 ,而且这种技术还可运用于其他基因类似突变的检测 ,是一种检测已知基因突变的先进技术。
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.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2003年第5期436-437,共2页
Chinese Journal of Medical Genetics
基金
山东省潍坊市科技发展计划项目 ( 2 0 0 0 - 0 6
