MacMillan J C, Morrison P J, Nevin N C, Shaw D J, Harper P S, Quarrell O W, Snell R G
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
J Med Genet. 1993 Dec;30(12):1012-3. doi: 10.1136/jmg.30.12.1012.
Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is associated with HD, we have detected an abnormal PCR product in four affected members from one family where affected subjects were originally reported to have BHC. The expanded allele contains 38 repeats in the affected parent and this undergoes further enlargement to 39 and 45 repeats in the two affected offspring. We conclude that the diagnostic criteria for BHC should include a normal result from analysis for the (CAG)n expansion identified in HD.
良性遗传性舞蹈病（BHC）是一种罕见的常染色体显性疾病，其特征为儿童期起病的非进行性舞蹈病且无认知障碍。我们使用位于IT15基因（CAG）n重复序列侧翼的引物（该重复序列的扩增与亨廷顿舞蹈病[HD]相关），在最初报告患有BHC的一个家族的4名患病成员中检测到异常的聚合酶链反应（PCR）产物。患病父母的扩增等位基因含有38个重复序列，在两个患病子代中进一步扩增至39个和45个重复序列。我们得出结论，BHC的诊断标准应包括对HD中鉴定出的（CAG）n扩增分析结果正常。
