Walker D A, Harper P S, Wells C E, Tyler A, Davies K, Newcombe R G
Clin Genet. 1981 Apr;19(4):213-21. doi: 10.1111/j.1399-0004.1981.tb00701.x.
A study of Huntington's Chorea in South Wales has shown a prevalence of 7.61 per 100,000 in the counties of Gwent and Glamorgan, with a total population of 1.7 million. Heterozygote frequency is close to 1 in 5,000. Total ascertainment within this area has been attempted, and experience since conclusion of the study has shown no patients who have been omitted apart from those originating outside the area and those new cases with no living affected relatives. Analysis of migration patterns suggests that around 20% of cases in each generation arise from outside Glamorgan and Gwent and that around 12% of first-degree relatives of indigenous cases have left the area. The survey has formed the initial phase of a long-term prospective study of the disease involving systematic genetic counselling of all high-risk individuals and regular surveillance to monitor possible trends in future prevalence.
一项对南威尔士亨廷顿舞蹈症的研究表明，在格温特郡和格拉摩根郡，每10万人中有7.61人患病，这两个郡的总人口为170万。杂合子频率接近五千分之一。已尝试对该地区进行全面确诊，自研究结束后的经验表明，除了那些来自该地区以外的患者以及没有在世患病亲属的新病例外，没有遗漏任何患者。对移民模式的分析表明，每一代中约20%的病例来自格拉摩根郡和格温特郡以外，而本地病例的一级亲属中约12%已离开该地区。该调查已成为对该疾病进行长期前瞻性研究的初始阶段，包括对所有高危个体进行系统的遗传咨询以及定期监测，以监测未来患病率的可能趋势。
