母亲与子代间线粒体基因组A3243G突变率的关系  

Relationship between mothers' mitochondrial DNA A3243G mutation load and offspring's

作　　者：马祎楠[1] 方方[2] 曹延延[3] 杨艳玲[3] 张英[1] 王松涛[1] 戚豫[1] 

机构地区：[1]北京大学第一医院中心实验室,北京100034 [2]首都医科大学北京儿童医院神经内科,北京100045 [3]北京大学第一医院儿科,北京100034

出　　处：《基础医学与临床》2011年第3期237-241,共5页Basic and Clinical Medicine

基　　金：国家自然科学基金(30700912);首都医学发展科研基金(2009-2022)

摘　　要：目的研究母亲和子代之间A3243G突变率的关系。方法收集50个携带线粒体基因组DNA A3243G突变家系进行A3243G突变率分析,以统计学方法研究母亲和子代A3243G突变率的关系。结果 (1)母亲血液与子代血液中A3243G突变率有相关,Pearson相关系数r=0.438,P<0.01;(2)母亲血液与子代尿液中A3243G突变率也相关,Pearson相关系数r=0.355,P<0.05;(3)在生育2名子女的家系中,生育2名携带A3243G突变患儿的母亲有较高的A3243G突变率。结论母亲血液中的A3243G突变率可能与子代血液和尿液中A3243G突变率呈正相关。Objective To study the relationship between mothers＇ A3243G mutation load and their offspring＇s.Methods Fifty families carrying A3243G mutation were recruited and A3243G mutation load was analysed.Results（1）A3243G mutation load in mothers＇ blood positively correlated with that in offspring＇s blood,the correlation coefficient is r=0.438,P0.01;（2）A3243G mutation load in mothers＇ blood positively correlated with that in offspring＇s urine,the correlation coefficient is r=0.355,P0.05;（3）In the families with 2 offspring,mutation ratio was higher in mothers having two affected children.Conclusion A3243G mutation load in mothers＇ blood may have a positive correlation with the mutation load in blood and urine of their children.

关 键 词：线粒体 A3243G突变 家系 

分 类 号：R394[医药卫生—医学遗传学]