Myers R H, Leavitt J, Farrer L A, Jagadeesh J, McFarlane H, Mastromauro C A, Mark R J, Gusella J F
Department of Neurology, School of Medicine, Boston University 02118.
Am J Hum Genet. 1989 Oct;45(4):615-8.
Four offspring of three different Huntington disease (HD) affected x affected matings were assessed by genetic linkage analysis for possible homozygosity. One individual was found to have a 95% likelihood of being an HD homozygote. The homozygote individual had an age at onset and symptoms which were similar to those of affected HD heterozygote relatives, including some with younger onset. This confirms the observation of Wexler et al. that in HD the homozygote is not more severely afflicted than the heterozygote.
对来自三个不同亨廷顿舞蹈症（HD）患者与患者交配组合的四个后代进行了基因连锁分析，以评估其是否可能为纯合子。发现有一个个体有95%的可能性是HD纯合子。该纯合子个体的发病年龄和症状与受影响的HD杂合子亲属相似，其中一些亲属发病年龄较轻。这证实了韦克斯勒等人的观察结果，即在HD中，纯合子的病情并不比杂合子更严重。
