IR@PKUHSC  > 北京大学第一临床医学院  > 中心实验室
学科主题临床医学
42个携带线粒体基因组A3243G突变核心家系临床表型分析
其他题名Analysis of clinical phenotype in 42 nuclear pedigrees carrying mitochondrial DNA A3243G mutation
马祎楠1; 方方1; 曹延延1; 杨艳玲1; 邹丽萍1; 张英1; 王松涛1; 朱赛楠1; 李琳1; 郑雪飞1; 裴珮1; 吴海蓉1; 肖洋1; 戚豫1
关键词Dna 家系 线粒体 突变 A3243g Dna Pedigree Mitochondrial Mutation A3243g
刊名中华医学杂志
2010
DOI10.3760/cma.j.issn.0376-2491.2010.45.006
90期:45页:3184-3187
收录类别中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型Journal Article
摘要目的 研究携带A3243G突变的家系成员的临床症状特点以及与A3243G突变负荷的关系.方法 收集42个携带A3243G突变的核心家系,对他们的临床表现、实验室检查和线粒体DNA 3243位点点突变检测结果进行分析.结果 (1)肌无力、癫痫发作、多毛、头痛、认知障碍、消瘦和身材矮小是A3243G突变家族中先证者最常见的临床症状,而且这些临床症状多同时存在.在实验室检查中,血乳酸、丙酮酸及MRI检查多有异常;(2)A3243G突变家族中的携带者大多表现正常,肌无力、消瘦和身材矮小是他们最常见的临床症状;(3)在先证者组中,尿液A3243G突变负荷高于血液(t=-15.06,P<0.001),在先证者母亲组中,尿液A3243G突变负荷也高于血液(z=-6.241,P<0.001);(4)先证者组血液和尿液中的A3243G突变负荷约是母亲组的2倍.结论 携带A3243G突变患者表型差异很大,先证者组的临床表现和实验室检查结果均较母亲组严重,可能与A3243G突变负荷有一定关系. Objective A3243G mutation in mitochondrial DNA is the most common pathogenic point mutation causing a variety of phenotypes.The clinical phenotype and the relationship between the clinical phenotype and the ratio of A3243G mutation were studied in the members from nuclear families carrying A3243G mutation.Methods A total of 42 families carrying A3243G mutation were recruited and their clinical symptoms,laboratory results and the ratio of A3243G analyzed.Result ( 1 ) In probands,myopathy,seizure,hirsutism,headache,cognitive impairment,weight loss and short stature were the most common clinical features.They tended to occur simultaneously.Lactic acid,pyruvate and MRI were abnormal in most probands;( 2 ) most carriers had a normal phenotype.Myopathy,weight loss and short stature were their most common clinical features;(3)the ratio of A3243G mutation in urine was higher than that in blood in probands ( t = - 15.06,P < 0.001 ).And the ratio of A3243G mutation in urine was higher than that in blood in their mothers(z = -6.241,P <0.001 );(4) the ratio of A3243G mutation in probands was 2-fold higher than that in their mothers in both blood and urine.Conclusion The phenotype of patients carrying A3243G mutatiom is varied.The clinical symptoms and laboratory results of probands are worse than those of mothers.It is probably due to a higher mutation ratio of m.3243 A > G in their tissues.
语种中文
原文出处查看原文
引用统计
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/44038
专题北京大学第一临床医学院_中心实验室
北京大学第一临床医学院_医学统计室
作者单位1.北京大学第一医院中心实验室,100034
2.首都医科大学附属北京儿童医院神经内科
3.北京大学第一医院儿科,100034
4.中国人民解放军总医院儿科
5.北京大学第一医院统计室,100034
推荐引用方式
GB/T 7714
马祎楠,方方,曹延延,等. 42个携带线粒体基因组A3243G突变核心家系临床表型分析[J]. 中华医学杂志,2010,90(45):3184-3187.
APA 马祎楠.,方方.,曹延延.,杨艳玲.,邹丽萍.,...&戚豫.(2010).42个携带线粒体基因组A3243G突变核心家系临床表型分析.中华医学杂志,90(45),3184-3187.
MLA 马祎楠,et al."42个携带线粒体基因组A3243G突变核心家系临床表型分析".中华医学杂志 90.45(2010):3184-3187.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[马祎楠]的文章
[方方]的文章
[曹延延]的文章
百度学术
百度学术中相似的文章
[马祎楠]的文章
[方方]的文章
[曹延延]的文章
必应学术
必应学术中相似的文章
[马祎楠]的文章
[方方]的文章
[曹延延]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。