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Abstract
Substantial STR population data exist to estimate FST (or u ) values across Europeans. Eleven populations across Europe were
analyzed, and the estimate over all 13 CODIS core STR loci is 0.0028. This value is much less than the conservative estimate of
0.01 advocated by the second National Research Council Report in 1996. Because of the low value for u , whether indepen-
dence is assumed or an adjustment for substructure is employed, there is little practical consequence for forensic purposes for
estimating the frequency of a multiple locus DNA prole. If u is used, a value of 0.01 is very conservative for Europeans. The
same STR population data can be used for evolutionary studies on Europeans, and the calculated genetic distances are
consistent with the ethnohistory of the populations. q 2001 Elsevier Science Ireland Ltd. All rights reserved.
Keywords: Europeans; Population databases; Short tandem repeat (STR); FST; u Genetic distance
1344-6223/01/$ - see front matter q 2001 Elsevier Science Ireland Ltd. All rights reserved.
PII: S 1344-622 3(01)00008-6
30 B. Budowle, R. Chakraborty / Legal Medicine 3 (2001) 2933
found that u estimates over all thirteen core CODIS analyses. These populations were used because raw
STR loci are 0.0006 for African Americans, 20.0005 genotype data were available.
for U.S. Caucasians, 0.0021 for Hispanics, and 0.0039 STR amplication and typing: The DNA samples
for Asians. Foreman, et al. [6] and Foreman and were amplied using kits from either PE Biosystems
Lambert [7] have found the value for u to be below (Foster City, CA) or the Promega Corporation (Madi-
0.01 between population samples within England and son, WI) and following the manufacturers' recom-
between England and the Netherlands or New Zeal- mendations. The amplied products were analyzed
and Caucasians. Their studies only looked at four STR using either an ABI Prisme 310 Genetic Analyzer,
loci: FGA, TH01, vWA, and D21S11 and the diversity ABI Prism w 373 or 377 DNA Sequencer (PE Biosys-
of European populations was small. However, tems, Foster City, CA), or an FMBIO II (MiraiBio/
substantial European population data are available to Hitachi Genetic Systems, Alameda, CA) according to
address the application of statistical inferences and the the manufacturer's recommended protocol. Details
determination of realistic values for u . about the analytical process can be obtained by
In the current paper, data from 11 European popu- contacting the authors of each population study.
lation groups were analyzed for the 13 CODIS STR Statistical analysis: The values for u were deter-
loci. The results show that there is little genetic varia- mined as described by Weir and Cockerham [16].
tion among Europeans, that a u value of 0.01 is Genetic distance, with bias correction, was estimated
conservative for European subpopulations, and that according to Nei [17,18]. The UPGMA algorithm was
estimates of the rarity of a DNA prole are not used to provide a graphical representation of genetic
affected to any consequence whether substructure distance data so that inferences of relationships may
effects are considered or ignored. be made. All analyses were performed using the
TFPGA program kindly provided by M. Miller
(Northern Arizona University at Flagstaff).
2. Materials and methods
Table 1
The loci typed and number of individuals typed per locus in each European population sample
Population D3S1358 vWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820 CSF1PO TPOX TH01 D16S539
Czech Republic 201 201 201 201 201 201 201 201
Finland 469 469 469 469 469 469 469 469
Cyprus (Greek) 152 152 152 152 152 152 152 152 152
Italy 1 618 618 618 618 618 618 618 618 618 618 618 618 618
Italy 2 223 223 223 223 223 223 223 223 223 223 223 223 223
Slovenia 321 321 321 321 321 321 321 321
Spain 1 401 401 401 401 401 401 401 401 401
Spain 2 171 171 171 171 171 171 171 171 171
Switzerland 206 206 206 206 206 206 206 206 206 206 206 206 206
Turkey 198 198 198 198 197 198 198 198 198 198 198 198 198
US Caucasian 203 196 196 196 196 196 195 196 203 203 203 203 202
loci in Europeans, and thereby determine if the NRC tions is higher than that reported for nine North Amer-
II recommendations are conservative. ican Caucasian data sets (u 20.0005), but is
The 11 European population groups represent expected. The greater amalgamation of European
sampling from a wide geographic area of Europe. populations in the United States should reduce the
The average heterozygosity ranges from 0.768 (Italy value. Regardless, a u value of 0.01 is conservative
1) to 0.817 (Spain 2) and is shown in Table 2. for forensic applications. Furthermore, the effect of u
All common alleles are observed in all European is of little consequence for forensically relevant popu-
samples in this study and the degree of polymorphism lations and DNA prole frequency estimates. Even so,
is similar (data not shown). Thus, it can be anticipated some may argue that the population substructure effect
that the value of u will be low among the 11 European should be evaluated with adjustments based on compu-
sample populations. Table 3 displays the u values for tations of the conditional probability given that the
the 13 STR loci in the 11 European population groups. prole has been observed in the suspect [20,21]. The
The estimate over all 13 STR loci (u 0.0028) is need for a conditional probability logically applies
much smaller than the value of 0.01 recommended
by the National Research Council [2].
Table 3
The estimate for the 11 European sample popula-
FST estimates a for the 11 European population samples
Table 4
Nei's [18] unbiased distance measures for the 11 European population samples
Czech Finland Cyprus Italy 1 Italy 2 Slovenia Spain 1 Spain 2 Switzerland Turkey US
Republic (Greek) Caucasian
ethnohistory (and geographic location). The two Report No. RR 803. Birmingham, England: British Crown
Italian groups fall into one clade, as do the Turks Copyright, 1999.
[8] Vanek D, Roman H, Budowle B. Czech population data on ten
and Greek Cypriots, the Czechs and Slovenes, and short tandem repeat loci of SGM Plus STR system kit using
the two Spanish sample populations. Furthermore, DNA puried in FTAe cards. Forens Sci Int 2001 (in press).
the Finns are the most distant. [9] Bashiardes E, Manoli P, Budowle B, Cariolou MA. Data on
In conclusion, there is little differentiation among nine STR loci used for forensic and paternity testing in the
European populations for the 13 CODIS core STR Greek Cypriot population of Cyprus. Forens Sci Int 2001 (in
press).
loci. Whether independence is assumed or an adjust- [10] Biondo R, Spinella A, Montagna P, Walsh S, Holt C, Budowle
ment for substructure using u is employed is of little B. Regional Italian allele at nine short tandem repeat loci.
practical consequence for estimating a multiple locus Forens Sci Int 2001;115:9598.
DNA prole frequency. If u is used, a value of 0.01 is [11] Garofano L, Pizzamiglio M, Vecchio C, Lago G, Floris T,
very conservative for Europeans and is even more D'Errico G, Brembilla G, Romano A, Budowle B. Italian
population data on thirteen short tandem repeat loci: THO1,
conservative for US Caucasians. These results are D21S11, D18S51, VWA, FGA, D8S1179, TPOX, CSF1PO,
consistent with the theory of Li and Chakravarti D16S539, D7S820, D13S317, D5S818, D3S1358. Forens Sci
[23] showing that, for realistic models of population Int 1998;97:5360.
heterogeneity, the use of the product rule for calculat- [12] Drobnic K, Regent A, Budowle B. STR data for the
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population substructure is present but ignored. [13] Arce B, Heinrichs B, Armenteros MF, Carrasco F, Lorente JA,
Budowle B. Spanish population data on nine STR loci. J
Forens Sci 2001 (in press).
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This is publication number 01-07 of the Laboratory nine STR loci and the amelogenin locus: Spanish population
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