Dangoor N, Gazit E, Sade M, Zimin B, Frydman M
Social Work Service, Tissue Typing Laboratory, Chaim Sheba Medical Center, Tel Hashomer.
Harefuah. 1995 Jun 15;128(12):751-4, 824.
The recent cloning of the Huntington's disease gene now allows definitive presymptomatic and even prenatal testing. This achievement has posed a considerable challenge for the genetic counselor. We present the multidisciplinary approach implemented in our center, and experience in our first 13 diagnoses. Individuals at risk undergo neuropsychiatric evaluation, genetic counseling, molecular studies, post-counselling follow-up and support according to the protocols suggested by the International Huntington's Disease Association. Molecular studies of cytosine-arginine-guanine repeats showed that 4 individuals and 1 at-risk fetus were unaffected and 6 at-risk individuals, including the mother of the fetus, had inherited the disease mutation. The diagnosis was excluded in 2 individuals clinically suspected of Huntington's disease. All but 1 of those investigated had accepted, and adapted to the new reality. The exception was a carrier who asked to discontinue the contact a week after being informed of the results.
亨廷顿舞蹈症基因的近期克隆成果现已使确定性的症状前检测甚至产前检测成为可能。这一成果给遗传咨询师带来了相当大的挑战。我们介绍了我们中心所采用的多学科方法,以及我们最初13例诊断的经验。根据国际亨廷顿舞蹈症协会建议的方案,有患病风险的个体要接受神经精神评估、遗传咨询、分子研究、咨询后随访及支持。对胞嘧啶-精氨酸-鸟嘌呤重复序列的分子研究表明,4名个体和1名有患病风险的胎儿未受影响,6名有患病风险个体(包括胎儿的母亲)遗传了致病突变。2名临床疑似患有亨廷顿舞蹈症的个体被排除了诊断。除1人外,所有接受调查的人都接受并适应了这一新情况。例外的是一名携带者,在得知检测结果一周后要求中断联系。