摘要
用Ｂａｙｅｓ分析法对一个ＤＭＤ家系中先证者两个姐姐的致病基因携带者风险进行估计。结果：单纯根据系谱分析，其风险为５０％；以ＣＰＫ值为条件概率作Ｂａｙｅｓ分析，其风险为２５％；用ＲＦＬＰ连锁分析，推断其风险为１０％。将ＲＦＬＰ连锁分析的结果作为又一个条件概率进行Ｂａｙｅｓ分析，其风险进一步准确到不超过３．６％。结果提示，系谱分析、生化分析和ＲＦＬＰ连锁分析三者结合进行Ｂａｙｅｓ分析，得到了最佳的结果。
Bayesian analysis was applied to estimate the carrier risk of two sisters of an obligate carrier in a pedigree of Duchenne muscular dystrophy(DMD).According to Mendel's law of segregation,all the sisters(Ⅱ1,Ⅲ3) of the obligate carrier(Ⅰ1) have a 50% chance to be a carrier. When the values of CPK are used as the conditional probability,the Bayesian analysis in risk estimation shows that the posterior probability to be a carrier is 25%.The restriction fragment length polymorphism(RFLP) linkage analysis indicates that the probability that Ⅱ1 andⅢ3 are carriers is less than 10%, This result can also be used in the Bayesian analysis with which a risk of less than 3.6% can be got.Our study suggests that the best result of carrier risk estimation can be obtained by the combined application of Mendel's law,RFLP linkage analysis and the Bayesian analysis.
出处
《河南医科大学学报》
1995年第3期267-269,共3页
Journal of Henan Medical University
关键词
Bayes分析法
肌肉萎缩
限制性片段
长度多态性
Duchenne muscular dystrophy
restriction fragment length polymorphism
Bayes theory
