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学科主题临床医学
Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A > G mutation
Ma, Yan-Yan1; Wu, Tong-Fei2; Liu, Yu-Peng2; Wang, Qiao2; Li, Xi-Yuan2; Song, Jin-Qing2; Shi, Xiu-Yu1; Zhang, Wei-Na1; Zhao, Meng1; Hu, Ling-Yan1; Yang, Yan-Ling2; Zou, Li-Ping1
关键词Mitochondrial disorders respiratory chain complex deficiency mitochondrial DNA 3243A > G mutation
刊名MITOCHONDRIAL DNA
2013-06-01
DOI10.3109/19401736.2012.760071
24期:3页:297-302
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology ; Beijing Nature Science Foundation ; National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology ; Beijing Nature Science Foundation
研究领域[WOS]Genetics & Heredity
关键词[WOS]TRNA(LEU(UUR)) GENE ; A3243G MUTATION ; LEIGH-SYNDROME ; POPULATION ; MELAS ; PREVALENCE ; LEUKOCYTES
英文摘要

To study the clinical, biochemical, and genetic heterogeneity of six Chinese patients and their mothers with the 3243 A>G mutation, six patients (ranging from 5 to 11 years) were hospitalized. All the mothers were healthy. Mitochondrial respiratory chain enzyme activities were determined by spectrophotometry. Mitochondrial gene was analyzed in all patients. Six core pedigrees were investigated. Two patients had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome and one had Leigh syndrome. The common initial symptoms were headache, vomiting, blurred vision, and epilepsy. m. 3243A>G mutation was detected in all patients and their mothers. The mutation loads ranged from 43.6% to 58% and those of their mothers ranged from 14.1% to 28.6%. Varied respiratory chain deficiencies were observed in all patients and two mothers. m. 3243A>G mutation can result in a wide spectrum of respiratory chain complex deficiencies. Mitochondrial DNA mutation detected in blood may be likely to transmit to offspring, and the mutation load may increase.

语种英语
所属项目编号30872794 ; 2012BAI09B04 ; 7081002
资助者National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology ; Beijing Nature Science Foundation ; National Nature Science Foundation of China ; 12th Five-year Plan National Key Technology R &amp ; D Program from the Ministry of Science and Technology ; Beijing Nature Science Foundation
WOS记录号WOS:000319227400036
引用统计
被引频次:3[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59189
专题北京大学第一临床医学院_儿科
作者单位1.Chinese Liberat Army Gen Hosp, Dept Pediat, Beijing 100853, Peoples R China
2.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Ma, Yan-Yan,Wu, Tong-Fei,Liu, Yu-Peng,et al. Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A > G mutation[J]. MITOCHONDRIAL DNA,2013,24(3):297-302.
APA Ma, Yan-Yan.,Wu, Tong-Fei.,Liu, Yu-Peng.,Wang, Qiao.,Li, Xi-Yuan.,...&Zou, Li-Ping.(2013).Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A > G mutation.MITOCHONDRIAL DNA,24(3),297-302.
MLA Ma, Yan-Yan,et al."Heterogeneity of six children and their mothers with mitochondrial DNA 3243 A > G mutation".MITOCHONDRIAL DNA 24.3(2013):297-302.
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