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首页> 外文期刊>Molecular biotechnology >A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in Huntington Chorea and CGG repeats in Fragile X syndrome
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A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in Huntington Chorea and CGG repeats in Fragile X syndrome

机译：一种统一的快速PCR方法，用于检测Huntington Chorea中CAG重复序列的正常和扩展三核苷酸等位基因以及脆性X综合征中CGG重复序列

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摘要

We report on a unified rapid betaine-based-PCR protocol for amplification of the (CAG)n region in Huntington disease (HD) and the (CGG)n region in Fragile X syndrome (FXS), followed by an electrophoretic separation on automated sequencer for precise determination of the triplet numbers. The high betaine concentration (2.5 M betaine) permits precise amplification of the CAG and CGG repeats. Ten HD affected patients and 10 healthy individuals from HD families were re-evaluated. For FXS the CGG region in normal individuals and premutations of about 100 repeats were precisely amplified by this protocol. Ten unrelated FXS premutation carriers and 24 mentally retarded non-FXS affected boys were re-examined by this method. The results totally coincided with the previous ones. This protocol is a good choice as a fast screening test. Within 24 h we can have preliminary information on the patient's genetic status. Normal individuals, CGG premutation carriers up to 100 repeats, as well as HD patients carrying an expansion up to 50 CAG repeats can be easily clarified. This accounts for a relatively large proportion (about 90%) of the suspected HD and FXS patients, referred to our laboratory for genetic analysis. The calculation of the repeat's number is more accurate for the correct interpretation of the results, screening tests and genetic counselling.
机译：我们报告了统一的基于甜菜碱的快速PCR协议，用于扩增亨廷顿病（HD）中的（CAG）n地区和脆性X综合征（FXS）中的（CGG）n地区，然后在自动测序仪上进行电泳分离用于精确确定三联体数。高甜菜碱浓度（2.5 M甜菜碱）可以精确扩增CAG和CGG重复序列。重新评估了10名受HD影响的患者和10名来自HD家庭的健康个体。对于FXS，该方案可精确扩增正常个体的CGG区和约100个重复的预突变。用这种方法重新检查了十个无关的FXS突变载体和24个弱智的非FXS受影响男孩。结果与之前的结果完全一致。该协议是快速筛选测试的不错选择。在24小时内，我们可以获得有关患者遗传状况的初步信息。正常人，多达100个重复的CGG预突变携带者以及携带多达50个CAG重复的HD患者可以很容易地弄清楚。在怀疑的HD和FXS患者中，这占了相当大的比例（约90％），请转交给我们的实验室进行基因分析。重复数的计算对于正确解释结果，筛选测试和遗传咨询更为准确。

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