定量联结人抗凝血酶的变异及其临床表现(英文)  

Quantitative Coupling of Human Antithrombin Mutations with Their Clinical Outcomes

作　　者：严少敏[1] 吴光 

机构地区：[1]广西科学院,广西南宁530007 [2]深圳市追梦科技咨询有限公司,广东深圳518054

出　　处：《广西科学院学报》2009年第3期183-186,191,共5页Journal of Guangxi Academy of Sciences

基　　金：国际科技合作项目(2008DFA30710);广西自然科学基金项目(桂科攻0630003A2和桂科自0991080);广西科学院项目(09YJ17SW07)资助

摘　　要：将蛋白质序列转换成数值数据后,建立一种描述性的概率方法分析单基因疾病的基因型与表型之间的关系。先用氨基酸分布概率定量变异的抗凝血酶,然后用交叉影响分析法联结人抗凝血酶的变异及其临床表现,再用贝叶斯公式计算变异条件下抗凝血酶缺乏的发病概率。结果显示当某个人被检测到抗凝血酶变异时将有大于90%的机会患遗传性抗凝血酶缺乏。This study demonstrated how to convert a protein sequence into a numeric datum,and provided a descriptively probabilistic method to analyze the genotype-phenotype relationship of single gene disorder. The amino-acid distribution probability was used to quantify human antithrombin Ⅲ mutations, then the cross-impact analysis was used to couple the quantified mutations with their clinical outcomes, and finally the Bayesian equation was used to determine the probability that the antithrombin Ⅲ deficiency was determined under a mutation. The results showed that a person had a chance larger than 90% of being inherited antithrombin Ⅲ deficiency when a mutation was found in the antithrombin Ⅲ.

关 键 词：氨基酸 遗传性抗凝血酶 缺乏 单基因疾病 变异 分布概率 贝叶斯法 交叉影响分析法 

分 类 号：Q75[生物学—分子生物学] R394.3[医药卫生—医学遗传学]