• 作者： 宋秉文; 王繼祖
• 作者服務機構： 國防醫學院神經內科學系; 陽明大學醫學院神經精神科; 臺北榮民總醫院神經醫學中心
• 中文摘要： 本研究證實國人杭丁頓氏病患者之huntingtin基因中有一段異常擴張的(CAG)n三核?酸重複序列，正常人此序列
  含九至二十九個重複，在患者則有四十個以上，二者之間亳無重疊；此序列之長度亦和患者之發病年紀成反比，發病年
  紀愈小者其序列所含之重複單位愈多。根據本研究所提供之資料，未來此序列之長度可成為我國人杭丁頓氏病之絕佳診
  斷標幟。
  英
• 英文摘要： Analysis of the polymorphic (CAG)n repeat in the huntingtin gene within the Chinese populationin Taiwan confirmed the presence of an expanded repeat on all Huntington's disease (HD) chromosomes.Measurement of the specific CAG repeat sequence in 35 HD chromosomes from 11 unrelated families and159 control chromosomes showed a range of from 9 to 29 (with a median of 17) repeats in normal subjectsand 40 to 58 (with a median of 44) in affected subjects. The size distributions of normal and affected allelesdid not overlap. The change in the size of the repeat in the HD size range on transmission for both sexeswas variable. The expansion size inversely correlated with age at the onset in HD, especially from theearly-onset disease. In summary, the molecular biology of HD is indistinguishable in Chinese and Caucasianpopulations, but the idea that world-wide HD evolved from a very limited number of European foundersis no longer tenable.
• 中文關鍵字： Huntington's disease; huntingtin gene; trinucleotide repeat; Chinese.
• 英文關鍵字： --