连锁DNA标记用于儿童Huntington病的临床诊断

• 作 者: 于全勇
• 出 处: 国外医学.遗传学分册
• 发表日期: 1988年04期
• 关键词: Huntington DNA标记 临床诊断 诊断技术 先证者 舞蹈样运动 等位片段 产前诊断 进行性痴呆 人格变化

临床上要对Huntington病(HD)作出明确诊断(尤其是在HD发病前确诊)是十分困难的,还没有一种专门的诊断技术可利用。儿童与成人HD症状有着临床上的区别,也很难确切地指出儿童早期HD与儿童其它神经性失调有何不同。为了证实1例具50%危险性的6岁男童患有儿童HD,作者使用了DNA标记。

Clinically, it is very difficult to make a definite diagnosis of Huntington’s disease (especially before the onset of HD), and no specific diagnostic technique is available yet. There is a clinical difference between HD symptoms in adults and adults, and it is difficult to pinpoint exactly how early childhood HD affects children with other neurological disorders. To show that a 6-year-old boy with a 50% risk was suffering from childhood HD, the authors used DNA markers.