Abstract
Definition about mutation rates of short tandem repeats (STRs) loci used in forensic
analysis are useful for the correct interpretation of resulting genetic profiles and
the definition of criterions for exclusion in paternity testing. Germline mutation
of 14 STR loci was studied for 54,105 parent–child allelic transfers from 2575 paternity
testing cases carried out during 2000–2007 from the Pernambuco State, Northeast Brazil.
The parenthood in each of these cases was highly validated (probability > 99.99%). We identified 43 mutations at 12 loci. Locus-specific mutation rate estimates
varied between 2 × 10−4 and 2 × 10−3, and the overall mutation rate estimate was 8 × 10−4. Mutation events in the male germline were more frequent than in the female germline.
The majority of the mutations could be explained by losses or gains of one repeat
unit and there was no evidence for selection between insertion or deletion changes.
Our data were compared with those of Portuguese and North-American populations for
CSF1PO, D18S51, D21S11, D7S820, TH01, TPOX and demonstrated, despite the great difference
in the size of the sample, that mutation rates of STR loci in a mixed population do
not differ from that encountered in different populations.
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
- A simple salting out procedure for extracting DNA for human nucleated cells.Nucleic Acids Res. 1988; 16: 1215
- Genetic analysis of 13 STR loci in the population from the State of Pernambuco, northeast Brazil.Forensic Sci. Int. 2004; 146: 57-59
- 13 STR loci frequencies in the population from Paraíba, Northeast Brazil.Forensic Sci. Int. 2007; 173: 231-234
- Elementary Statistics in Social Research.Harper & Row, EUA1978
- Mutation of human short tandem repeats.Hum. Mol. Genet. 1993; 2: 1123-1128
- STR mutations in paternity investigations: a study of 1-year consecutive cases.Int. Congr. Ser. 2003; 1239: 657-660
NIST Standard Reference Database, 2002. Home page at http://www.cstl.nist.gov/biotech/strbase/mutation.htm.
NIST Standard Reference Database, 2003. Home page at http://www.cstl.nist.gov/biotech/strbase/mutation.htm.
- Publication of population data of human polymorphisms.Forensic Sci. Int. 2000; 110: 3-5
Article info
Publication history
Published online: January 09, 2009
Accepted:
November 23,
2008
Received in revised form:
October 20,
2008
Received:
March 28,
2008
Identification
Copyright
© 2009 Published by Elsevier Inc.
