Benitez J, Fernandez E, Garcia Ruiz P, Robledo M, Ramos C, Yébenes J
Department of Genetics, Fundación Jimenez Díaz, Madrid, Spain.
Hum Genet. 1994 Nov;94(5):563-4. doi: 10.1007/BF00211028.
Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progressive movement disorders and mental and behavioral abnormalities. The HD gene is an expanding and unstable trinucleotide repeat (CAG repeat sequences). We studied 77 individuals from 38 families with HD in an attempt to obtain information for genetic counselling and differential diagnosis. Our results indicate that individuals with more than 40 repeats will be affected by the disease, whereas those with fewer than 30 will be healthy. There can be some overlap between 30 and 40 repeats, and one should be careful when interpreting these results.
亨廷顿舞蹈症（HD）是一种神经退行性遗传病，其特征为进行性运动障碍以及精神和行为异常。HD基因是一种不断扩展且不稳定的三核苷酸重复序列（CAG重复序列）。我们对来自38个患有HD家庭的77名个体进行了研究，旨在获取遗传咨询和鉴别诊断的相关信息。我们的结果表明，CAG重复序列超过40次的个体将会患病，而少于30次的个体则会保持健康。30至40次重复之间可能存在一些重叠情况，在解读这些结果时应谨慎。
