用Bayes定理多指标筛查Wilson病家系

SCPEENING SIBS IN WILSON DISEASE FAMILIES BY USING BAYES THEOREM

利用临床诊断Ｗｉｌｓｏｎ病（ＷＤ）的常用生化指标：血浆铜蓝蛋白、血清铜和尿铜，结合酯酶Ｄ多态性、ＷＤ发病风险与年龄分布的关系，应用微机化的Ｂａｙｅｓ定理对８个家系的１２例先证者同胞进行了三种状态──症状前患者、杂合子和正常个体的综合判别分析。家系１、家系６和家系８的筛查结果与已经完成的ＤＮＡ诊断结果相吻合。本研究可用于临床诊断、治疗ＷＤ以及遗传咨询。

Wilson disease(WD),or hepatolenticular degeneration,is an autosomal recessive disorder resulting in endogenous copper accumulation to toxic levels.By using Bayes theorem,we identifid 12 proband sibs in 8 WD families in three states:normal,heterozygous or presymptomatic with the assay of blood ceruloplsmin,serum Cu and urinarr Cu usually employed in clinical diagnosis,and the polymorphism of esterase D,and the onset risk factor were also considered.Analyses resulted in differentiating accuraey, for instance,in family one,the s1b's probability of being a presymptomatic increased from 25%to89.9%;in family three,the sib's probability of being a heterozygote increased from 50%to72.4%;in family six,the sib's probability of being normal inereased from 25%to100%.Especially,the screening results of family one,six and eight,agree with the DNA diagnosis we have done.Thus, Bayes analysis is reliable and can be used in genetic counselling for WD.