title: Redefinition of hypervariable region I in mitochondrial DNA control region and comparing its diversity among various ethnic groups.
abstract: The hypervariable region I (HVR-I) of the mitochondrial DNA control region described in the literature is variable in its 5'and 3' ends as well as in its length, causing a problem when data from different ethnic groups are to be compared. To redefine HVR-I, which should be highly polymorphic yet relatively short in length, we analyzed 1437 reported sequences distributed among 11 geographic areas in the world. The results showed that the 237-bp (nts 16126-16362) redefined HVR-I (rHVR-I) had a global genetic diversity of 0.9905 and the 154-bp (nts 16209-16362) short HVR-I (sHVR-I) had a global diversity of 0.9735. Being flanked by a stretch of highly conservative sequences, both rHVR-I and sHVR-I can be produced by PCR, even if extracted from badly degraded specimens. Comparing the genetic diversity among 3870 sequences from 25 countries, we found that the genetic diversity of rHVR-I was 0.9869+/-0.0133 in Asian countries, 0.9685+/-0.0193 in African countries, 0.9299+/-0.0664 in European countries, and 0.8477+/-0.1857 in American countries, whereas that of sHVR-I was 0.9689+/-0.0284 in Asian countries, 0.9504+/-0.0334 in African countries, 0.8721+/-0.0911 in European countries, and 0.8230+/-0.1693 in American countries. The difference in genetic diversity among these countries is consistent with the notion that genetic diversity roughly reflects the genetic history of a given ethnic group. Our results indicate that a polymorphic, short, and PCR-producible HVR-I can be defined, making the comparison among various ethnic groups possible.
authors.affiliation: Taipei American School, 800 Chung Shan North Road, Sec. 6, Taipei 111, Taiwan.
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Tzen
authors.forename: Hsiu-Jun
authors.initials: HJ
authors.lastname: Hsu
authors.forename: Man-Ning
authors.initials: MN
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D018732:Forensic Anthropology; D044707:Forensic Sciences; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial