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首页> 外文期刊>Genetic testing and molecular biomarkers >An Unusual Melting Curve on a LightCycler Due to a New Mutation in Methylenetetrahydrofolate Reductase
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An Unusual Melting Curve on a LightCycler Due to a New Mutation in Methylenetetrahydrofolate Reductase

机译：一个不寻常的LightCycler由于融化曲线新突变Methylenetetrahydrofolate还原酶

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摘要

Methylenetetrahydrofolate reductase (MTHFR; E.C. 1.5.1.20) catalyzes the reduction of 5,10-methylenetetrahydofolate to 5-methytetrahydrofolate, and its activity is affected by a number of polymorphisms and mutations, the best known being MTHFR c.677C > T (OMIM 607093.003). The c.677C > T mutation is often analyzed by melting curve analysis after real-time polymerase chain reaction. We observed in one patient upon dual hybridization probe analysis in a Roche LightCycler 1.2 an unusual melting curve peak at 53.4℃ instead of one expected at either 51.6℃ or 60.4℃ . We sequenced the region of MTHFR interrogated by the dual hybridization probes, which revealed a c.685A > G base substitution that would result in an 11e225Val substitution. In conclusion, we identified the cause of an unusual melting curve in a commonly used genotyping technique for MTHFR c.677C > T as due to a novel mutation highlighting the ability of melting analysis to identify new sequence variants.
机译：Methylenetetrahydrofolate还原酶(MTHFR;1.5.1.20)催化的还原5, 10-methylenetetrahydofolate5-methytetrahydrofolate,其活动多态性和影响突变,最著名的是MTHFR c.677C > T(人类607093.003)。经常分析了熔化曲线分析实时聚合酶链反应。在一个病人双杂交探针分析在罗氏LightCycler 1.2一个不寻常的融化曲线峰值为53.4℃,而不是一个预计在51.6℃和60.4℃。双重的MTHFR审问杂交探针,它揭示了c.685A > G导致碱基替换11 e225val替换。发现一个不寻常的熔化曲线的原因在常用的MTHFR基因分型技术由于小说突变c.677C > T强调融化分析的能力识别新的序列变异。

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