MITOCHONDRIAL TRANSFER RNATHR MUTATION IN FATAL INFANTILE RESPIRATORY ENZYME DEFICIENCY
MITOCHONDRIAL TRANSFER RNATHR MUTATION IN FATAL INFANTILE RESPIRATORY ENZYME DEFICIENCY
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DOI：
10.1016/0006-291x(91)90399-r
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发表时间：
1991-05-15
影响因子：
3.1
通讯作者：
ERNST, SG
中科院分区：
文献类型：
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作者：
YOON, KL;APRILLE, JR;ERNST, SG
应用变性梯度凝胶分析技术对两例无血缘关系的致死性呼吸链缺陷婴儿的线粒体DNA(MtDNA)进行分析。这一分析显示了融化行为的差异，表明包含凋亡素b和tRNAthr基因的限制性片段中存在点突变(S)。测序显示，患者1在15924位发生A到G突变，这是与tRNAthr反密码子环相邻的反密码子茎的最后一个碱基对。患者2在反密码子环的最后一个碱基15923位发生A到G突变。结果表明，影响tRNA反密码子环结构的mtDNA突变会导致线粒体疾病，这种疾病在婴儿时期是致命的。
The mitochondrial DNA (mtDNA) of two unrelated infants with lethal respiratory chain defects was studied using denaturing gradient gel analysis. This analysis revealed melting behavior differences suggesting a point mutation(s) in a restriction fragment containing the apocytochrome b and tRNAthrgenes. Sequencing revealed that patient 1 had an A to G mutation at nt 15924 which is the last base pair of the anticodon stem adjacent to the anticodon loop of tRNAthr. Patient 2 had an A to G mutation at nt 15923 which is the last base of the anticodon loop. The results suggest that mtDNA mutations affecting the anticodon loop structure of tRNAthrcause mitochondrial disease that is fatal in infancy.