Mitochondrial DNA diversity in the African American population

Abstract

Genetic polymorphism along mitochondrial DNA (mtDNA) defines population-specific signatures called mtDNA haplogroups. Estimation of mtDNA haplogroup distribution may be prone to errors, notably if the study sample is not drawn from a multicenter cohort. Here, we report on mtDNA diversity in a sample of African American individuals (n = 343) enrolled in a multicenter cohort. Sequencing of the hypervariable regions I and II of the D-loop control region showed that the most common mitochondrial variants are 73G, 146C, 150T, 152C, 189G, 16278T, and 16311C. In agreement with the published data, we observed 17 common mtDNA haplogroups: L0, L1, L1b, L1c, L2, L2a, L2b, L2c, L2e, L3, L3b, L3d, L3e, L3f, L3h, L3x, and L4. The most commonly observed haplogroup is L2a (19.8%), followed by L1b (10.2%). Overall, the observed mtDNA haplogroup distribution in our study is similar to those published for the African American and the African populations.

• Admixture
• African American
• mtDNA haplogroup
• polymorphism
• REACH

Acknowledgements

The authors would like to thank Mrs. Catherine M. Sreenan for her valuable technical assistance. The authors thank the REACH participants for their valuable contributions as well as the investigators and staff involved in the study (listed in J Adolesc Health 2001;29:S5–6).

Declaration of interest

This research was funded in part by the University of Alabama at Birmingham School of Public Health (BA). The REACH study (1994–2001) was supported by the National Institute of Child Health and Human Development (U01-HD32830), with supplemental funding from the NIAID, the National Institute on Drug Abuse, and the National Institute of Mental Health. RM was funded through postdoctoral training grant T32 HL072757. The authors declare no conflicts of interests.

Supplementary material available online Supplementary Figures S1A and S1B