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112 Int'l J. Legal Med. 1 (1998-1999)

handle is hein.journals/injlegame112 and id is 1 raw text is: © Springer-Verlag 1998

V. L. Pascali - M. Dobosz - B. Brinkmann
Coordinating Y-chromosomal STR research for the Courts

Introduction
The growing interest of contemporary biology in the hu-
man Y chromosome (Hammer 1995; Jobling and Tyler-
Smith 1995) has extended to forensic circles. This trend
emerges from a consideration of the increasing number of
papers published in forensic science journals concerned in
qualifying polymorphisms of human Y chromosomes as
tools for molecular identification. Jobling et al. (1997) list
a number of forensic issues to which the male-specific pro-
files could be applied and discuss their appropriateness and
suitability. In view of the inherent court application, we wish
to discuss some critical aspects of this new class of DNA
profiles and issue some guidelines for those researchers
who are considering to prepare and submit forensic Y-
STR work to the International Journal of Legal Medicine.
A consensus typing scheme for male identification
The perspective that male DNA profiles could become the
natural counterpart of mitochondrial polymorphisms and
attain the same practical success as the mtDNA control
region is endorsed by the broad range of application of
haploid profiles. However, many of the currently avail-
able Y-profiles have a discrimination power too low for
court use because researchers tend to type a small number
(< 3) of STRs on a large (> 100) population sample. This
strategy seems to be a relic of autosomal typing and is ob-
viously of little forensic value when applied to a non-re-
combining system such as the Y-chromosome. What is re-
quired is extending each individual typing in the sample to
as many Y loci as possible, even at the cost of typing smaller
sample sizes. Eventually, these haplotype data sets will ac-
cumulate into a database large enough for practical use in
V. L. Pascali
Forensic Genetics Unit, University of Verona, Italy
M. Dobosz  V. L. Pascali (®)
Immunohaematology Laboratory, Istituto di Medicina Legale,
University Cattolica, largo F. Vito, I-100168 Roma, Italy
B. Brinkmann
Institute of Legal Medicine, University of Munster, Germany

the courts. Kayser et al. (1997) have already standardised
genotyping procedures and proposed a practical core set
of STRs for further research. We would encourage further
publications complying with the proposed standards.
DNA repositories
Significant efforts should be devoted in constructing banks
of male genomes accessible to a large circle of researchers
for integration into future refinements of male haplotypes.
The samples should be drawn from diverse populations,
since there is growing evidence that dramatically different
frequencies of haplotypes exist in different populations
(Forster et al. 1998). It is evident that a publication on a new
Y-locus is more informative if it is studied on previously
characterised samples than on fresh samples. For example,
a research group might have previously published the
Kayser et al. (1997) core set of Y-STRs in certain individu-
als; if they or others then describe a novel locus or novel
variants of an existing locus using the published samples,
they could quantify the improvement of the new locus on the
haplotype resolution and present a useful new publication
to the research community (cf. Cagliha et al. 1997, 1998).
References
Caglia A, Novelletto A, Dobosz M, Malaspina P, Ciminelli BM,
Pascali VL (1997) Y-chromosome STR loci in Sardinia and
continental Italy reveal islander-specific haplotypes. Eur J Hum
Genet 5:288-292
Caglia A, Dobosz M, Boschi I, d'Aloja E, Pascali VL (1998) In-
creased discrimination power of a Y-specific short tandem re-
peat haplotype by addition of the highly polymorphic DYS385
locus. Int J Legal Med (in press)
Forster P, Kayser M, Meyer E, Roewer L, Pfeiffer H, Benkmann
H, Brinkmann B (1998) Mol Biol Evol, in press
Hammer MF (1995) A recent common ancestry for human Y chro-
mosomes. Nature 378:376-378
Jobling MA, Tyler-Smith C(1995) Fathers and sons: the Y chro-
mosome and human evolution. Trends Genet 11:449-456
Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome
in forensic analysis and paternity testing. Int J Legal Med 110:
118-124
Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G,
Heidorn F et al (1997) Evaluation of Y-chromosomal STRs:
a multicentre study. Int J Legal Med 110:125-133

Int J Legal Med (1998) 112: 1

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