Guida M, Marger R S, Papp A C, Snyder P J, Sedra M S, Kissel J T, Mendell J R, Prior T W
Department of Pathology, Ohio State University, Columbus 43210.
Clin Chem. 1995 Jan;41(1):69-72.
Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas DM patients have CTG expansions of 50 to several thousand repeats. The age of onset of the disorder and the severity of the phenotype is roughly correlated with the size of the CTG expansion. We developed a molecular protocol for the diagnosis of DM based on an initial polymerase chain reaction screen to detect normal-sized alleles and small expansions, followed by an improved Southern protocol to detect larger expansions.
强直性肌营养不良（DM）是一种常染色体显性遗传病，由肌强直蛋白激酶基因3'非翻译区不稳定的CTG重复序列引起。在正常人群中，CTG重复序列出现5至30次，而DM患者的CTG重复序列扩展至50至数千次。该疾病的发病年龄和表型严重程度大致与CTG扩展的大小相关。我们开发了一种用于DM诊断的分子检测方法，首先通过聚合酶链反应筛查来检测正常大小的等位基因和小的扩展，然后采用改进的Southern检测方法来检测更大的扩展。
