Benítez J, Fernández E, García Ruiz P, Robledo M, Ayuso C, García Yébenes J
Departamento de Genética, Fundación Jiménez Díaz, Madrid.
Rev Clin Esp. 1994 Aug;194(8):591-3.
We have studied 77 patients from 38 families with Huntington's disease (HD) analyzing the genes trinucleotide repeats (CAG)n; we have compared the results with those of 154 chromosomes from control population. Patients with HD range from 39 to 70 repeats while healthy patients have between 12 and 36 repeats. These results show the great feasibility of this genetic test. We do not have found a correlation between expansion's repeats and age of onset except for young people with the disease; in these cases we have found high level of expansions (more than 65) that could be a prognostic parameter of the disease.
我们研究了来自38个患有亨廷顿舞蹈症（HD）家庭的77名患者，分析了三核苷酸重复序列（CAG）n基因；我们将结果与来自对照人群的154条染色体的结果进行了比较。HD患者的重复序列数在39至70之间，而健康患者的重复序列数在12至36之间。这些结果表明了这种基因检测的巨大可行性。除了患有该疾病的年轻人外，我们未发现重复序列扩增与发病年龄之间存在相关性；在这些病例中，我们发现了高水平的扩增（超过65），这可能是该疾病的一个预后参数。
