Kreuz F R
Institute of Human Genetics, Georg-August-University, Göttingen, Germany.
Genet Couns. 1996;7(4):303-11.
Huntington's disease is an autosomal dominant neurodegenerative disorder characterized by involuntary movements, psychological deterioration and dementia. Indirect predictive testing by linkage analysis has been possible since 1983; direct predictive testing by detecting the instable CAG-repeat has been possible since 1993. Persons at risk were asked, by questionnaire, about their motivation and regarding attitude taking part in indirect and direct predictive and prenatal diagnostics. About half of the interrogated German persons at risk wish to undertake DNA analysis, whereas 32.7% do not want to take part in a direct predictive test. Motives for taking the test are the same as those mentioned in the literature (certainty of carrier status, decisions concerning marriage and further children, planning a career). Motives for not taking the test mostly involve psychological problems in coping with the test result. 45.7% wish to undergo a direct prenatal test (main cause: certainty of the gene status of the child), whereas 27% would not take this test (because of non-toleration of abortion). Only statistical trends could be seen between the intention to take the predictive or prenatal test and some social and demographic variables. The at-risk persons would not change their attitudes regarding indirect or direct predictive and prenatal DNA analysis; they seem to have a confirmed opinion about molecular genetics, mostly depending on familial and social background.
亨廷顿舞蹈症是一种常染色体显性神经退行性疾病，其特征为不自主运动、心理衰退和痴呆。自1983年起，通过连锁分析进行间接预测性检测成为可能；自1993年起，通过检测不稳定的CAG重复序列进行直接预测性检测成为可能。通过问卷调查，询问有患病风险的人参与间接和直接预测性诊断以及产前诊断的动机和态度。约一半接受询问的有患病风险的德国人希望进行DNA分析，而32.7%的人不想参加直接预测性检测。进行检测的动机与文献中提到的相同（确定携带者状态、关于婚姻和生育更多子女的决定、职业规划）。不进行检测的动机主要涉及应对检测结果时的心理问题。45.7%的人希望进行直接产前检测（主要原因：确定胎儿的基因状态），而27%的人不会进行此项检测（因为不能接受堕胎）。在进行预测性或产前检测的意愿与一些社会和人口统计学变量之间，只能看出统计趋势。有患病风险的人不会改变他们对间接或直接预测性以及产前DNA分析的态度；他们似乎对分子遗传学已有确定的看法，这主要取决于家庭和社会背景。
