肝豆状核变性（Wilson病）的发病曲线及其在遗传咨询中的应用

本文在分析了２６５例Ｗｉｌｓｏｎ病（ＷＤ）患者的初始发病年龄后，运用函数统计学中的曲线模拟方法，首次获得了中国人群ＷＤ的发病年龄与发病风险的相关曲线，再把发病年龄这一遗传咨询中的重要因素代入到ＷＤ的遗传咨询中，并探讨了年龄因素在应用Ｂａｙｅｓ定理对ＷＤ家系再发风险进行计算机综合判别分析中的意义。分析结果显示，年龄因素对再发风险的评估有着很重要的影响，可大大提高ＷＤ遗传咨询的准确性。本研究不仅填补了我国ＷＤ发病年龄的分布规律方面的资料，也为ＷＤ家系中再发风险的评估增添了有用的信息

Effect of age at onset on genetic counselling of Wilson disease.

The genetic counselling of diseases is an important method in decreasing freqquncy of genetic diseases and improving population health. The application of Bayes theorem in genetic counselling is one of the most methods by analysing parameters used in the method should be much more, more reliable and more accurate. In this paper, we established a mimic curve of age at onset and recurrence risk of Wilson disease (WD), and intraduced this parameter to the Bayes theorem analysis in the genetic counselling of WD. The result revealed that age at onset is a factor which cannot be neglected in the genetic counselling of WD.