A new method for the evaluation of matches in non-recombining genomes:: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males

被引:95
作者
Roewer, L
Kayser, M
de Knijff, P
Anslinger, K
Betz, A
Caglià, A
Corach, D
Füredi, S
Henke, L
Hidding, M
Kärgel, HJ
Lessig, R
Nagy, M
Pascali, VL
Parson, W
Rolf, B
Schmitt, C
Szibor, R
Teifel-Greding, J
Krawczak, M
机构
[1] Humboldt Univ, Inst Rechtsmed, D-10115 Berlin, Germany
[2] Max Planck Inst Evolutionary Anthropol, Leipzig, Germany
[3] Leiden Univ, Forens Lab DNA Res, Leiden, Netherlands
[4] Univ Munich, Inst Legal Med, Munich, Germany
[5] Landeskriminalamt Baden Wurttemberg, Stuttgart, Germany
[6] Catholic Univ, Inst Legal Med, Rome, Italy
[7] Serv Huellas Digitales Genet, Buenos Aires, DF, Argentina
[8] Inst Forens Sci, Budapest, Hungary
[9] Inst Blutgruppenforsch, Dusseldorf, Germany
[10] Univ Cologne, Inst Legal Med, Cologne, Germany
[11] Landeskriminalamt Sachsen Anhalt, Magdeburg, Germany
[12] Univ Leipzig, Inst Legal Med, Leipzig, Germany
[13] Univ Innsbruck, Inst Legal Med, Innsbruck, Austria
[14] Univ Magdeburg, Inst Legal Med, Magdeburg, Germany
[15] Bayer Landeskriminalamt, Munich, Germany
[16] Univ Wales Coll Cardiff, Coll Med, Inst Med Genet, Cardiff, S Glam, Wales
关键词
Y-STR haplotype; haplotype diversity; analysis of molecular variance; haplotype frequency estimation; reference database;
D O I
10.1016/S0379-0738(00)00287-5
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
A 9-locus microsatellite framework (minimal haplotype), previously developed for forensic purposes so as to facilitate stain analysis, personal identification and kinship testing, has been adopted for the establishment of a large reference database of male European Y-chromosomal haplotypes. The extent of population stratification pertaining to this database, an issue crucial for its practical forensic application, was assessed through analysis of molecular variance (AMOVA) of the 20 regional samples included. Despite the notion of some significant haplotype frequency differences, which were found to correlate with known demographic and historic features of Europeans, AMOVA generally revealed a high level of genetic homogeneity among the populations analyzed. Owing to their high diversity, however, accurate frequency estimation is difficult for Y-STR haplotypes when realistic (i.e. moderately sized) datasets are being used. As expected, strong pair-wise and higher order allelic associations were found to exist between all markers studied, implying that haplotype frequencies cannot be estimated as products of allele frequencies. A new extrapolation method was therefore developed which treats haplotype frequencies as random variables and generates estimates of the underlying distribution functions on the basis of closely related haplotypes. This approach, termed frequency 'surveying', is based upon standard population genetics theory and can in principle be applied to any combination of markers located on the Y-chromosome or in the mitochondrial genome. Application of the method to the quality assured reference Y-STR haplotype database described herein will prove very useful for the evaluation of positive trace-donor matches in forensic casework. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.
引用
收藏
页码:31 / 43
页数:13
相关论文
共 30 条
  • [1] Increased forensic efficiency of a STR-based Y-specific haplotype by addition of the highly polymorphic: DYS385 locus
    Caglia, A
    Dobosz, M
    Boschi, I
    d'Aloja, E
    Pascali, VL
    [J]. INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1998, 111 (03) : 142 - 146
  • [2] Additional approaches to DNA typing of skeletal remains: The search for ''missing'' persons killed during the last dictatorship in Argentina
    Corach, D
    Sala, A
    Penacino, G
    Iannucci, N
    Bernardi, P
    Doretti, M
    Fondebrider, L
    Ginarte, A
    Inchaurregui, A
    Somigliana, C
    Turner, S
    Hagelberg, E
    [J]. ELECTROPHORESIS, 1997, 18 (09) : 1608 - 1612
  • [3] INTRA-POPULATION AND INTER-POPULATION DIVERSITY AT SHORT TANDEM REPEAT LOCI IN DIVERSE POPULATIONS OF THE WORLD
    DEKA, R
    SHRIVER, MD
    YU, LM
    FERRELL, RE
    CHAKRABORTY, R
    [J]. ELECTROPHORESIS, 1995, 16 (09) : 1659 - 1664
  • [4] EXCOFFIER L, 1992, GENETICS, V131, P479
  • [5] GALE JS, 1990, THEORETICAL POPULATI, P313
  • [6] Gehrig C, 2000, J FORENSIC SCI, V45, P436
  • [7] Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (North-East Spain)
    Gené, M
    Borrego, N
    Xifró, A
    Piqué, E
    Moreno, P
    Huguet, E
    [J]. INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1999, 112 (06) : 403 - 405
  • [8] POPULATION-GENETICS OF SHORT TANDEM REPEAT (STR) LOCI
    GILL, P
    EVETT, I
    [J]. GENETICA, 1995, 96 (1-2) : 69 - 87
  • [9] Honda K, 1999, J FORENSIC SCI, V44, P868
  • [10] The Y chromosome in forensic analysis and paternity testing
    Jobling, MA
    Pandya, A
    TylerSmith, C
    [J]. INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 1997, 110 (03) : 118 - 124