Abstract
The simple tetrameric STR D9S1120 exhibits a common population-specific allele of
9 repeats (9RA) reported to have an average frequency of 0.36 in Native Americans
from both North and South of the continent. Apart from the presence of 9RA in two
northeast Siberian populations, D9S1120 shows variability exclusive to, and universal
in all American populations studied to date. This STR therefore provides an informative
forensic marker applicable in countries with significant proportions of Native American
populations or ancestry. We have re-designed PCR primers that reduce the amplified
product sizes reported in NCBI UniSTS by more than a third and have characterized
the repeat structure of D9S1120. The 9RA allele shares the same repeat structure as
the majority of other D9S1120 alleles and so originates from a slippage-diminution
mutation rather than an independent deletion. We confirm the previously reported allele
frequencies from a range of populations indicating a global heterozygosity range for
D9S1120 of 66–75% and estimate the proportion of Native American-diagnostic genotypes
to average 53%, underlining the potential usefulness of this STR in both forensic
identification and in population genetics studies of the Americas.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Forensic Science International: GeneticsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Genetic variation and population structure in Native Americans.PLoS Genet. 2007; 3: 2049-2067
- A private allele ubiquitous in the Americas.Biol. Lett. 2007; 3: 218-223
- A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history.Proc. Natl. Acad. Sci. U.S.A. 1996; 93: 196-200
- mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations.Am. J. Hum. Genet. 1993; 53: 549-562
- The Phylogeny of the four pan-American mtDNA haplogroups: implications for evolutionary and disease studies.PLoS One. 2008; 3: e1764
- Informativeness of genetic markers for inference of ancestry.Am. J. Hum. Genet. 2003; 73: 1402-1422
- The mtDNA ancestry of admixed Colombian populations.Am. J. Hum. Biol. 2008; ([epub ahead of print])
- Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry.Hum. Mutat. 2008; 29: 427-432
Article info
Publication history
Published online: August 27, 2008
Accepted:
July 4,
2008
Received in revised form:
July 2,
2008
Received:
June 15,
2008
Identification
Copyright
© 2008 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
