人类线粒体DNA和翻译产物的正常变异：参考数据库的构建。
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
作者信息
Marzuki S, Noer A S, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E
机构信息
Department of Biochemistry, Monash University, Clayton, Victoria, Australia.
出版信息
Hum Genet. 1991 Dec;88(2):139-45. doi: 10.1007/BF00206061.
A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human mtDNA sequence, and 62 amino acid variants of the human mitochondrial translation products, observed in the coding region of these mtDNA sequences.
对于研究线粒体基因组中正常及与疾病相关的核苷酸变异而言，一份关于高度多态性的人类线粒体DNA（mtDNA）序列的良好标准参考至关重要。人类线粒体基因组的共有序列源自13条不相关的mtDNA序列。我们报告了在这些mtDNA序列编码区观察到的128个人类mtDNA序列的核苷酸变异，以及62个人类线粒体翻译产物的氨基酸变异。
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