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[Five de novo forms of polymorphisms first found in Chinese mitochondrial genome]
Objective:
To know more polymorphic changes in mitochondrial genome in Chinese.
Method:
PCR and sequencing of the 16,569 bp long mtDNA of the white blood cell DNA were conducted on 4 Chinese children, 3 with Rett syndrome and one normal. PCR and Restriction endonuclease digest, including artificial created restriction site (ACRS), were done on 100 normal controls in the light of the 7 newly discovered single base substitution sites.
Result:
Five point mutations, C298T, C638G, C3206T, A6323G and C6326T, neither appearing in MITOMAP database nor reported in literature before, were identified in Chinese people with the frequencies of 17.65%, 32.04%, 62.77%, 33.33% and 32.26%. Other two point mutations, C737T and C9860T, were found only in patients with Rett syndrome.
Conclusion:
The five sequence changes newly found in mitochondrial genome of Chinese are de novo kinds of polymorphism.