DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY
DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY
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DOI：
10.1038/355547a0
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发表时间：
1992-02-06
期刊：
影响因子：
64.8
通讯作者：
JOHNSON, K
中科院分区：
文献类型：
--
作者：
BUXTON, J;SHELBOURNE, P;JOHNSON, K
肌强直性营养不良（DM）是成人肌肉营养不良最常见的形式，患病率为每10万人2-14例1。该病的特点是进行性肌肉无力和持续肌肉收缩，常伴有多种症状。该病的发病年龄和严重程度在家庭内部和家庭之间都表现出极大的差异。尽管其临床变异性，但这种显性疾病在每个研究人群中都以染色体19q13.3的单一位点分离1。它的两侧是紧密相连的遗传标记ERCC1，近端为2,3，远端为D19S51，远端为4,5；这些定义DM临界区域。我们报告从该区域分离出一个表达序列，该序列检测到受影响个体的DNA片段比正常兄弟姐妹或未受影响的对照大。该片段的大小在受影响的兄弟姐妹之间有所不同，并且随着疾病严重程度的增加而增加。我们假设这种不稳定的DNA序列是导致糖尿病的分子特征。
MYOTONIC dystrophy (DM) is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals 1. The disease is characterized by progressive muscle weakness and sustained muscle contraction, often with a wide range of accompanying symptoms. The age at onset and severity of the disease show extreme variation, both within and between families. Despite its clinical variability, this dominant condition segregates as a single locus at chromosome 19q13.3 in every population studied 1. It is flanked by the tightly linked genetic markers ERCC1 proximally 2,3 and D19S51 distally 4,5; these define the DM critical region. We report the isolation of an expressed sequence from this region which detects a DNA fragment that is larger in affected individuals than in normal siblings or unaffected controls. The size of this fragment varies between affected siblings, and increases in size through generations in parallel with increasing severity of the disease. We postulate that this unstable DNA sequence is the molecular feature that underlies DM.