The interpretation of lineage markers in forensic DNA testing.

Mitochondrial DNA (mtDNA) and the non-recombining portion of the Y-chromosome are inherited matrilinealy and patrilinealy, respectively, and without recombination. Collectively they are termed 'lineage markers'. Lineage markers may be used in forensic testing of an item, such as a hair from a crime scene, against a hypothesised source, or in relationship testing. An estimate of the evidential weight of a match is usually provided by a count of the occurrence in some database of the mtDNA or Y-STR haplotype under consideration. When the factual statement of a count in the database is applied to a case, issues of relevance of the database and sampling uncertainty may arise. In this paper, we re-examine the issues of sampling uncertainty, the relevance of the database, and the combination of autosomal and lineage marker evidence. We also review the recent developments by C.H. Brenner.

[1]  E. S. Pearson,et al.  THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL , 1934 .

[2]  J M Curran,et al.  Interpreting DNA mixtures in structured populations. , 1999, Journal of forensic sciences.

[3]  M. Holland,et al.  Mitochondrial DNA Sequence Analysis - Validation and Use for Forensic Casework. , 1999, Forensic science review.

[4]  Bruce Walsh,et al.  Joint match probabilities for Y chromosomal and autosomal markers. , 2008, Forensic science international.

[5]  Bruce S Weir,et al.  THE RARITY OF DNA PROFILES. , 2007, The annals of applied statistics.

[6]  K. Ayres,et al.  Allowing for within-subpopulation inbreeding in forensic match probabilities , 1999 .

[7]  Charles H Brenner,et al.  Fundamental problem of forensic mathematics--the evidential value of a rare haplotype. , 2010, Forensic science international. Genetics.

[8]  B. Weir,et al.  ESTIMATING F‐STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE , 1984, Evolution; international journal of organic evolution.

[9]  D J Balding,et al.  DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. , 1994, Forensic science international.

[10]  A. Amorim.  A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers. , 2008, Forensic science international. Genetics.

[11]  V. Pascali,et al.  A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males. , 2000, Forensic science international.

[12]  W. Ewens.  The sampling theory of selectively neutral alleles. , 1972, Theoretical population biology.

[13]  S. Wright,et al.  Evolution in Mendelian Populations. , 1931, Genetics.

[14]  R. Chakraborty,et al.  The effects of Asian population substructure on Y STR forensic analyses. , 2009, Legal medicine.

[15]  C. Cockerham,et al.  VARIANCE OF GENE FREQUENCIES , 1969, Evolution; international journal of organic evolution.

[16]  Mikkel Meyer Andersen,et al.  Y-STR Frequency Surveying Method: A critical reappraisal. , 2011, Forensic science international. Genetics.

[17]  R. Chakraborty,et al.  Texas Population Substructure and Its Impact on Estimating the Rarity of Y STR Haplotypes from DNA Evidence * , 2009, Journal of forensic sciences.