Highlights
- •A series of novel formulae are provided to calculate the pedigree likelihood.
- •The formulae are deduced based on inheritance vectors and Lander-Green algorithm.
- •The formulae are deduced based on founder symmetry and founder couple symmetry.
- •The pedigree likelihood for multiple linked loci can be obtained by using the formulae.
- •A series of cases were designed based on three linked STR markers, on chromosome 6.
Abstract
Pedigree likelihood ratios are widely used in forensic genetics. Linkage of genetic
markers affects the pedigree likelihood ratio. In this study, a series of novel formulae
was established based on simplification due to founder and founder couple symmetry
of the Lander-Green algorithm for dealing with linkage. These new formulae are based
on the inheritance vectors and differ from existing formulae that are based on the
number of alleles shared identical-by-descent. In contrast to previous formulae, the
formulae of this study expand the calculation to more general relationships, which
enables specifying the number of typed individuals in pedigrees, and the new formulae
are no longer limited to calculation of pairs of linked markers. Alternatively, pedigree
likelihood values incorporating multiple linked markers could be obtained by iterating
the vector transition probability between pairs of linkage markers and the probability
of genotypes of typed individuals given inheritance vectors; the vector transition
probability formulae are provided in a table form. To demonstrate utilization of the
proposed formulae system, a series of cases were designed based on the relationships
to validate GeneVisa software (www.genevisa.net) with frequency data of three linked markers, SE33-D6S1043-D6S474, on chromosome
6. The calculation results were verified with the FamLink software. The results demonstrated
that the proposed formulae can correctly obtain the pedigree likelihood ratio, demonstrating
the application potential of these formulae to verify effectiveness of DNA testing
software.
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
- Evaluation of the impact of genetic linkage in forensic identity and relationship testing for expanded DNA marker sets.Forensic Sci. Int. Genet. 2017; 26: 58-65https://doi.org/10.1016/j.fsigen.2016.10.007
- FamLink--a user friendly software for linkage calculations in family genetics.Forensic Sci. Int. Genet. 2012; 6: 616-620https://doi.org/10.1016/j.fsigen.2012.01.012
- Development of a software for kinship analysis considering linkage and mutation based on a Bayesian network.Forensic Sci. Int. Genet. 2020; 47102279https://doi.org/10.1016/j.fsigen.2020.102279
- A general model for the genetic analysis of pedigree data.Hum. Hered. 1971; 21: 523-542https://doi.org/10.1159/000152448
- Construction of multilocus genetic linkage maps in humans.Proc. Natl. Acad. Sci. U.S.A. 1987; 84: 2363-2367https://doi.org/10.1073/pnas.84.8.2363
- Exact genetic linkage computations for general pedigrees.Bioinformatics. 2002; 18: S189-S198https://doi.org/10.1093/bioinformatics/18.suppl_1.S189
- Symbolic kinship program.Genetics. 1997; 145: 535-542https://doi.org/10.1093/genetics/145.2.535
- Validation of DNA-based identification software by computation of pedigree likelihood ratios.Forensic Sci. Int. Genet. 2011; 5: 308-315https://doi.org/10.1016/j.fsigen.2010.06.005
- On identification problems requiring linked autosomal markers.Forensic Sci. Int. Genet. 2008; 2: 219-225https://doi.org/10.1016/j.fsigen.2008.02.006
- Relatedness calculations for linked loci incorporating subpopulation effects.Forensic Sci. Int. Genet. 2013; 7: 380-383https://doi.org/10.1016/j.fsigen.2013.03.002
- Improved inference of relationship for pairs of individuals.Am. J. Hum. Genet. 2000; 67: 1219-1231https://doi.org/10.1016/S0002-9297(07)62952-8
- Merlin—rapid analysis of dense genetic maps using sparse gene flow trees.Nat. Genet. 2002; 30: 97-101https://doi.org/10.1038/ng786
- Complete multipoint sib-pair analysis of qualitative and quantitative traits.Am. J. Hum. Genet. 1995; 57: 439-454
- Parametric and nonparametric linkage analysis: a unified multipoint approach.Am. J. Hum. Genet. 1996; 58: 1347-1363
- Allegro, a new computer program for multipoint linkage analysis.Nat. Genet. 2000; 25: 12-13https://doi.org/10.1038/75514
- A method for quantifying differentiation between populations at multi-allelic loci and its implications for investigating identity and paternity.Genetica. 1995; 96: 3-12https://doi.org/10.1007/BF01441146
- A general model for likelihood computations of genetic marker data accounting for linkage, linkage disequilibrium, and mutations.Int. J. Leg. Med. 2015; 129: 943-954https://doi.org/10.1007/s00414-014-1117-7
- Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.Am. J. Hum. Genet. 1996; 58: 1323-1337
- The recombination landscape around forensic STRs: accurate measurement of genetic distances between syntenic STR pairs using HapMap high density SNP data.Forensic Sci. Int. Genet. 2012; 6: 354-365https://doi.org/10.1016/j.fsigen.2011.07.012
- Population genetic data of investigator HDplex markers in Han population from Southern China.Int. J. Leg. Med. 2019; 133: 77-79https://doi.org/10.1007/s00414-018-1796-6
- Polymorphism analysis and evaluation of 19 STR loci in the Han population of Southern China.Ann. Hum. Biol. 2013; 40: 191-196https://doi.org/10.3109/03014460.2012.750685
- Population genetic study for 24 STR loci and Y indel (GlobalFiler™ PCR amplification kit and PowerPlex® fusion system) in 1000 Korean individuals.Leg. Med. 2016; 21: 53-57https://doi.org/10.1016/j.legalmed.2016.06.003
- Population data of nine miniSTR loci in Koreans.Forensic Sci. Int. 2007; 168: e51-e53https://doi.org/10.1016/j.forsciint.2007.02.001
- Allele frequencies of 10 STR loci in Koreans.Forensic Sci. Int. 2004; 140: 133-135https://doi.org/10.1016/j.forsciint.2003.11.027
- Probability and forensic evidence: theory.Philosophy, and Applications. Cambridge University Press, 2021
Article info
Publication history
Published online: October 17, 2022
Accepted:
September 26,
2022
Received in revised form:
September 24,
2022
Received:
February 11,
2022
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.