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Mitochondrial DNA polymorphism in Chinese.

Human mitochondrial DNA (mtDNA) restriction endonuclease fragment patterns were analyzed using placenta DNA isolated from 273 individuals representing four different nationalities, the Han, the Uygur, the Kazakh and the Hui populations. Thirty-eight fragment patterns (morphs) were observed with the enzyme ApaI, BamHI, EcoRI, HindIII, HinfI, HhaI, HapII, KpnI, Mbol, PstI, PvuII, SacI, ScaL and XhoI. Fourteen new morphs, including some only existing in individual racial and national populations were observed, which indicates that there is a significant difference in the distribution of mtDNA morphs among various national and racial populations. By comparison with the mtDNA sequences in primate species, some mtDNA ancestral morphs were found to be retained in Oriental population today. This result provided indirect evidence that Asia may be one of the human original sources. Genetic distances among four national populations computed and employed in construction of an average linkage tree suggested that the Uygur and the Kazakh populations combined to form a branch at first, then the Han and the Hui came together to form another one, and at last, these two branches converged into a stem. Again, it was found that the internal variation within the Uygur and the Kazakh populations was greater than that within the Han and the Hui populations. These results showed a relationship among the four different national populations in China based on the molecular level.