GENEALOGY-DNA-L Archives

From:
Subject: PubMed abstract: African-American mtDNA study
Date: Tue, 11 Jan 2005 19:25:01 EST

"Control region" is synonymous with HyperVariable Region (HVR). The data
about "hot spots" is relevant for all haplogroups.

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Forensic Sci Int. 2005 Mar 10;148(2-3):169-79.

Characterization of human control region sequences of the African American
SWGDAM forensic mtDNA data set.

Allard MW, Polanskey D, Miller K, Wilson MR, Monson KL, Budowle B.

Department of Biological Sciences, George Washington University, Washington,
DC 20052, USA.

The scientific working group on DNA analysis Methods (SWGDAM) mitochondrial
DNA (mtDNA) population data set is used to infer the relative rarity of control
region mtDNA profiles obtained from evidence samples and of profiles used for
identification of missing persons. In this study, the African American
haplogroup patterns in the SWGDAM data were analyzed in a phylogenetic context to
determine relevant single nucleotide polymorphisms (SNPs) and to describe
haplogroup distributions for Africans observed in these data sets. Over 200 SNPs (n
= 217) were observed in the African American data set (n = 1148). These SNPs
ranged from having 1-39 changes in the phylogenetic tree, with sites 152 and
16519 being the most variable. On average there were 5.8 changes for a character
on the tree. The most variable sites (with 19 or more changes each) observed
included 16093, 16129, 16189, 16311, 16362, 16519, 146, 150, 152, 189, and
195. These rapidly changing sites are consistent with other published analyses.
Only 34 SNPs are needed to identify all clusters containing 10 or more
individuals in the African American data set. The results show that the African
American SWGDAM mtDNA data set contains variation consistent with that described in
continental African populations. Thirteen of the 18 haplogroups previously
observed in African populations were observed and include: L1a, L1b, L1c, L2a,
L2b, L2c, L3b, L3d, L3e1, L3e2, L3e3, L3e4 and L3f. Haplogroup L2a is the most
commonly observed cluster (18.8%) in the African American data set. The next
most common haplogroups in the African American data set include the clusters
L1c (11.0%), L1b (9.1%), L3e2 (9.0%) and L3b (8.1%). Approximately 8% of the
haplogroups observed within African Americans were common in European Caucasians
or East Asians; these were H (n = 32), J (n = 4), K (n = 5), T (n = 2), U5 (n
= 6), U6 (n = 9 also known from North Africa), A (n = 12), B (n = 7), C (n =
4), and M (n = 16), respectively. The European Caucasian and East Asian
haplogroups are expected due to admixture between individuals with recent ancestry in
Western Eurasia and sub-Saharan Africa. The genetic characterization of these
relevant data sets is fully consistent with other published mtDNA genetic
variation. The sequence diversity observed in this data set makes it a valuable
tool for forensic applications.

PMID: 15639612 [PubMed - in process]

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