MacDonald M E, Vonsattel J P, Shrinidhi J, Couropmitree N N, Cupples L A, Bird E D, Gusella J F, Myers R H
Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA.
Neurology. 1999 Oct 12;53(6):1330-2. doi: 10.1212/wnl.53.6.1330.
Huntington's disease (HD) is attributed to a triplet CAG repeat mutation, and about half of the variation in onset age can be explained by the size of the repeat expansion. Recently, a TAA repeat polymorphism in close linkage to the kainate receptor, GluR6, was reported related to onset age in HD. We examined this polymorphism in 258 unrelated HD-affected persons (172 from a clinic sample and 86 from a postmortem series). This study confirms that the 155 allele is associated with younger onset age of HD and suggests that it is in linkage disequilibrium with a variant of the GluR6 gene or another gene in this region.
亨廷顿舞蹈症（HD）归因于三联体CAG重复突变，发病年龄约一半的变异可由重复扩增的大小来解释。最近，有报道称与红藻氨酸受体GluR6紧密连锁的TAA重复多态性与HD的发病年龄有关。我们在258名无亲缘关系的HD患者中检测了这种多态性（172名来自临床样本，86名来自尸检系列）。这项研究证实155等位基因与HD发病年龄较轻有关，并表明它与GluR6基因的一个变体或该区域的另一个基因处于连锁不平衡状态。
