论文部分内容阅读
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 used to estimate the risk of carriers of disease-causing genes in two elders of one proband in one DMD pedigree. Results: The risk was 50% based on pedigree analysis alone. Bayes analysis with conditional probability of CPK was 25%, and the risk was estimated to be 10% using RFLP linkage analysis. Bayes analysis of the results of the RFLP linkage analysis as yet another conditional probability is further accurate to no more than 3.6%. The results suggest that pedigree analysis, biochemical analysis and RFLP linkage analysis of the three Bayes analysis, the best results.