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首页> 外文期刊>Genetic testing and molecular biomarkers >Triplet-primed PCR Is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1
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Triplet-primed PCR Is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1

机译：Triplet-primed PCR比南方更敏感blotting-long PCR诊断肌紧张的营养不良类型1

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摘要

Genetic testing of myotonic dystrophy type 1 (DM1) is very important because it enables the diagnosis and indicates the severity of the disease. Mutation analysis is based on the detection of the number of CTG triplets in the 3′ untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Sometimes it could be complicated by the presence of different patterns of repeat interruptions in the 5′ and 3′ ends of the expanded alleles recently described in about 3% to 5% of patients. To make molecular diagnosis easier and faster, the use of triplet-primed PCR (TP-PCR) for the detection of expansions in DM1 and other dynamic mutation diseases was proposed. Here we present the results of a retrospective study performed by TP-PCR on 100 subjects previously analyzed by Southern blotting-long PCR.
机译：基因检测肌强直性营养不良类型1 (DM1)很重要,因为它允许吗诊断和显示的严重性疾病。检测CTG三胞胎的数量在3 '翻译区肌强直性营养不良蛋白激酶(DMPK)基因。复杂的存在不同的模式重复中断的5’和3’端最近扩大等位基因中描述3%至5%的患者。更容易和更快,triplet-primed PCR的使用(TP-PCR)检测在DM1扩张和其他动态突变疾病。这里我们回顾的结果研究由TP-PCR 100科目前面分析了blotting-long南部23隊.

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