- Email: [email protected]
Y-chromosome polymorphism data in Majorcan, Minorcan and Valencian populations (eastern Spain)
Forensic Science International 124 (2001) 231–234
Announcement of population data
Y-chromosome polymorphism data in Majorcan, Minorcan and Valencian populations (eastern Spain) Gema Jime´nez, Anto`nia Picornell*, Carmen Toma`s, Jose´ A. Castro, M. Miserico`rdia Ramon Departament de Biologia, Laboratori de Gene`tica, Universitat de les Illes Balears, Cra. Valldemossa, km 7.5, 07071-Palma de Mallorca, Balears, Spain Received 5 June 2001; received in revised form 30 September 2001; accepted 1 October 2001
Abstract Frequency data of the six STRs: (1) DYS19; (2) DYS389I; (3) DYS389II; (4) DYS390; (5) DYS391 and (6) DYS393, and the DYS287 polymorphism (YAP) were determined in a sample of 117 unrelated males from three eastern Spanish populations: 53 from Majorca, 40 from Minorca and 24 from Valencia. # 2001 Elsevier Science Ireland Ltd. All rights reserved. Keywords: Y-chromosome; Short tandem repeats; YAP; Population data; Eastern Spain
Population: Autochthonous unrelated males from Valencia and the islands of Majorca and Minorca. Previous Y-chromosome studies in Valencian population can be found in the literature [1,2]. Extraction: Standard phenol/chloroform DNA extraction [3]. PCR: The five Y-chromosome STRs (1) DYS19; (2) DYS389I; (3) DYS389II; (4) DYS390 and (5) DYS391 were co-amplified using approximately 15 ng of genomic DNA in a total reaction volume of 25 ml following the method of Gusma˜o et al. [4], with modifications. PCR amplification of DYS393 and DYS287 was achieved in singleplex under standard conditions with the primer sequences obtained from the literature. All loci were amplified in a GeneAmp PCR System 2400 (PE Applied Biosystems). Typing: ABI 310 for the pentaplex, PAGE (6%) in nondenaturing conditions for the DYS393 system [5] and 2% agarose gels for DYS287. In all cases, reference sequenced ladders (PE Applied Biosystems) or our own allele ladders were used.
* Corresponding author. Tel.: þ34-971-173332; fax: þ34-971-173184. E-mail address: [email protected] (A. Picornell).
Results: See Tables 1–4. Analysis of data: ARLEQUIN package [6]. Access to the data: [email protected]. Other remarks: Comparisons between all of the three populations studied showed no significant differences. FST values between these populations and other Spanish (Andalusia, Catalonia, Galicia, Valencia and Basques) and Portuguese populations only showed significant differences between the Majorcan and Andalusian and Portuguese. No evidence of significant allele association was observed in the pairwise comparisons between loci, except in DYS19 versus DYS287.
Table 1 Allele frequencies of the STRs DYS19, DYS389I, DYS389II, DYS390, DYS391 and DYS393 and DYS287 (YAP) in the populations studied (number of individuals in parenthesis) Locus
Allele
Majorca (53)
Minorca (40)
Valencia (24)
Pooled (117)
DYS19
12 13 14 15 16
– 0.038 0.623 0.245 0.094
0.025 0.100 0.650 0.125 0.100
– 0.042 0.583 0.333 0.042
0.009 0.060 0.624 0.222 0.085
0379-0738/01/$ – see front matter # 2001 Elsevier Science Ireland Ltd. All rights reserved. PII: S 0 3 7 9 - 0 7 3 8 ( 0 1 ) 0 0 6 0 5 - 3
G. Jime´nez et al. / Forensic Science International 124 (2001) 231–234
232 Table 1 (Continued ) Locus
Allele
Majorca (53)
Minorca (40)
Valencia (24)
Pooled (117)
DYS389I
9 10 11 12
0.132 0.660 0.189 0.019
0.050 0.700 0.250 –
0.167 0.500 0.333 –
0.111 0.641 0.239 0.009
15 16 17 18
0.019 0.774 0.094 0.113
0.025 0.775 0.150 0.050
0.083 0.542 0.333 0.042
0.034 0.726 0.162 0.077
21 22 23 24 25
0.038 0.038 0.226 0.566 0.132
– 0.050 0.200 0.675 0.075
– 0.042 0.250 0.667 0.042
0.017 0.043 0.222 0.624 0.094
9 10 11 12
0.019 0.283 0.679 0.019
0.025 0.350 0.625 –
0.042 0.333 0.625 –
0.025 0.316 0.650 0.009
10 12 13 14 15
– 0.113 0.736 0.132 0.019
0.025 0.150 0.725 0.100 –
– 0.125 0.750 0.125 –
0.009 0.128 0.735 0.120 0.009
1 (þ) 0.038 0 () 0.962
0.175 0.825
0.083 0.917
0.094 0.906
DYS389IIa
DYS390
DYS391
DYS393
DYS287 (YAP)
Table 2 Number of alleles (n) and gene diversity (D) for the seven Y-linked loci analysed (number of individuals in parenthesis) System
a
For DYS389II, the number of repeats was obtained by subtracting the length of the corresponding DYS389I allele [7].
Majorca (53)
Minorca (40)
Valencia (24)
Pooled (117)
DYS19 n D
4 0.542
5 0.541
4 0.546
5 0.550
DYS389I n D
4 0.511
3 0.445
3 0.611
4 0.520
DYS389II n D
4 0.379
4 0.374
4 0.587
4 0.440
DYS390 n D
5 0.608
4 0.496
4 0.489
5 0.551
DYS391 n D
4 0.458
3 0.487
3 0.497
4 0.477
DYS393 n D
4 0.428
4 0.441
3 0.406
5 0.429
DYS287 (YAP) n 2 D 0.073
2 0.289
2 0.152
2 0.170
Average n D
3.6 0.439
3.3 0.470
4.1 0.448
3.9 0.428
Table 3 Haplotype frequencies of the seven Y-chromosome loci in the populations studied DYS19
DYS389I
DYS389II
DYS390
DYS391
DYS393
DYS287
12 13 13 13 13 13 13 13 14 14 14 14 14 14 14 14 14 14 14 14
10 9 9 10 10 11 11 11 9 9 9 9 10 10 10 10 10 10 10 10
18 17 17 17 18 16 16 17 16 16 16 18 16 16 16 16 16 16 16 16
24 24 24 24 24 23 24 22 23 24 25 25 23 23 23 24 24 24 24 24
10 10 11 10 10 11 9 10 10 11 11 10 10 11 11 10 10 10 11 11
12 13 13 13 13 13 13 13 12 13 13 13 13 13 13 13 13 14 10 12
þ þ þ þ þ þ þ
Majorca
Minorca
Valencia
1 1 1 1 1 1 1 1 1 1 1 1
1
2 1
1 1
1 1 2 1 1 1
2
Pooled 1 1 1 1 1 1 1 1 1 2 1 1 2 2 1 4 1 2 1 1
G. Jime´ nez et al. / Forensic Science International 124 (2001) 231–234
233
Table 3 (Continued ) DYS19
DYS389I
DYS389II
DYS390
DYS391
DYS393
DYS287
Majorca
Minorca
Valencia
Pooled
14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 16 16 16 16 16 16 16 16 16
10 10 10 10 10 10 10 10 10 10 10 10 10 11 11 11 11 11 11 11 11 11 12 9 9 9 9 9 9 10 10 10 10 10 10 10 10 10 10 10 11 11 11 11 10 10 10 10 10 10 10 10 11
16 16 16 16 16 16 16 17 17 17 17 18 18 15 16 16 16 16 16 16 17 18 16 15 16 16 16 17 17 16 16 16 16 16 16 16 17 17 18 18 16 16 16 17 15 16 16 16 16 16 17 18 16
24 24 24 25 25 25 23 24 24 24 24 23 24 24 23 23 24 24 24 24 24 24 23 25 24 24 25 22 22 22 23 23 23 24 24 25 23 24 21 21 23 23 24 24 23 23 23 23 24 24 23 22 25
11 11 12 11 11 11 11 10 10 11 11 10 11 11 10 11 10 11 11 11 11 11 11 10 10 11 10 10 10 11 9 11 11 10 11 11 11 11 10 10 10 11 11 11 10 9 10 11 11 11 10 10 11
13 14 13 12 13 14 12 12 13 13 13 12 13 13 12 13 13 12 13 14 13 13 13 13 14 13 14 13 14 13 12 13 14 13 13 13 13 12 13 14 13 13 12 13 12 12 13 14 12 14 15 13 13
þ þ þ þ þ
8 1 1
6 1
1 1
15 3 1 1 3 1 1 1 2 3 1 1 1 2 1 3 2 1 7 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 5 1 1 1 1 1 1 1 1 2 1 1 2 1 1 1 1 1 1
1 3 1 1 1 1 1
1 2 1
1 1 1 1
1 1 1 3
2 2 1 1
3 1
1 1 1 1 1 1 1 1 1 1 1 1 1 5 1 1 1 1 1 1 1 1 2 1 1 2 1 1 1 1 1 1
G. Jime´ nez et al. / Forensic Science International 124 (2001) 231–234
234
Table 4 Y-chromosome haplotype information based on seven loci (DC: discrimination capacity; HD: haplotype diversity) Population
Number of individuals
Number of haplotypes
DC (%)
HD
Majorca Minorca Valencia Pooled
53 40 24 117
37 31 19 73
69.8 77.5 79.2 62.4
0.967 0.976 0.978 0.976
Acknowledgements This work was supported by Grant PM97-0041 from the Direccio´ n General de Ensen˜ anza Superior (Spain). C.T. is a recipient of a FPI Fellowship from the Ministerio de Eduacio´ n y Cultura (Spain).
References [1] A. Gonza´ lez-Neira, L. Gusma˜ o, M. Brio´ n, M.V. Lareu, A. Amorim, A. Carracedo, Distribution of Y-chromosome STR defined haplotypes in Iberia, Forensic Sci. Int. 110 (2000) 117–126. [2] M. Aler, A. Gonza´ lez, M. Brio´ n, M. Gisbert, Y-chromosome STR haplotypes in an Spanish population sample, Progr. Forensic Genet. 8 (2000) 305–308.
0.014 0.016 0.019 0.008
[3] J. Sambrook, E.F. Fritsch, T. Maniatis, Molecular Cloning: a Laboratory Manual, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1989. [4] L. Gusma˜ o, A. Gonza´ lez-Neira, C. Pestoni, M. Brio´ n, M.V. Lareu, A. Carracedo, Robustness of the Y STRs DYS19, DYS389 I and II, DYS390 and DYS393: optimization of a PCR pentaplex, Forensic Sci. Int. 106 (1999) 163–172. [5] A. Pe´ rez-Lezaun, F. Calafell, E. Mateu, D. Comas, R. Ruı´zPacheco, J. Bertranpetit, Microsatellite variation and the differentiation of modern humans, Hum. Genet. 99 (1997) 1–7. [6] S. Schneider, D. Roessli, L. Excoffier, A Software for Population Genetics Data Analysis, Arlequin Version 2.000, Genetics and Biometry Laboratory, University of Geneva, Switzerland, 2000. [7] G. Cooper, W. Amos, D. Hoffman, D.C. Rubinsztein, Network analysis of human Y microsatellite haplotypes, Hum. Mol. Genet. 5 (1996) 1759–1766.
Announcement of population data
Y-chromosome polymorphism data in Majorcan, Minorcan and Valencian populations (eastern Spain) Gema Jime´nez, Anto`nia Picornell*, Carmen Toma`s, Jose´ A. Castro, M. Miserico`rdia Ramon Departament de Biologia, Laboratori de Gene`tica, Universitat de les Illes Balears, Cra. Valldemossa, km 7.5, 07071-Palma de Mallorca, Balears, Spain Received 5 June 2001; received in revised form 30 September 2001; accepted 1 October 2001
Abstract Frequency data of the six STRs: (1) DYS19; (2) DYS389I; (3) DYS389II; (4) DYS390; (5) DYS391 and (6) DYS393, and the DYS287 polymorphism (YAP) were determined in a sample of 117 unrelated males from three eastern Spanish populations: 53 from Majorca, 40 from Minorca and 24 from Valencia. # 2001 Elsevier Science Ireland Ltd. All rights reserved. Keywords: Y-chromosome; Short tandem repeats; YAP; Population data; Eastern Spain
Population: Autochthonous unrelated males from Valencia and the islands of Majorca and Minorca. Previous Y-chromosome studies in Valencian population can be found in the literature [1,2]. Extraction: Standard phenol/chloroform DNA extraction [3]. PCR: The five Y-chromosome STRs (1) DYS19; (2) DYS389I; (3) DYS389II; (4) DYS390 and (5) DYS391 were co-amplified using approximately 15 ng of genomic DNA in a total reaction volume of 25 ml following the method of Gusma˜o et al. [4], with modifications. PCR amplification of DYS393 and DYS287 was achieved in singleplex under standard conditions with the primer sequences obtained from the literature. All loci were amplified in a GeneAmp PCR System 2400 (PE Applied Biosystems). Typing: ABI 310 for the pentaplex, PAGE (6%) in nondenaturing conditions for the DYS393 system [5] and 2% agarose gels for DYS287. In all cases, reference sequenced ladders (PE Applied Biosystems) or our own allele ladders were used.
* Corresponding author. Tel.: þ34-971-173332; fax: þ34-971-173184. E-mail address: [email protected] (A. Picornell).
Results: See Tables 1–4. Analysis of data: ARLEQUIN package [6]. Access to the data: [email protected]. Other remarks: Comparisons between all of the three populations studied showed no significant differences. FST values between these populations and other Spanish (Andalusia, Catalonia, Galicia, Valencia and Basques) and Portuguese populations only showed significant differences between the Majorcan and Andalusian and Portuguese. No evidence of significant allele association was observed in the pairwise comparisons between loci, except in DYS19 versus DYS287.
Table 1 Allele frequencies of the STRs DYS19, DYS389I, DYS389II, DYS390, DYS391 and DYS393 and DYS287 (YAP) in the populations studied (number of individuals in parenthesis) Locus
Allele
Majorca (53)
Minorca (40)
Valencia (24)
Pooled (117)
DYS19
12 13 14 15 16
– 0.038 0.623 0.245 0.094
0.025 0.100 0.650 0.125 0.100
– 0.042 0.583 0.333 0.042
0.009 0.060 0.624 0.222 0.085
0379-0738/01/$ – see front matter # 2001 Elsevier Science Ireland Ltd. All rights reserved. PII: S 0 3 7 9 - 0 7 3 8 ( 0 1 ) 0 0 6 0 5 - 3
G. Jime´nez et al. / Forensic Science International 124 (2001) 231–234
232 Table 1 (Continued ) Locus
Allele
Majorca (53)
Minorca (40)
Valencia (24)
Pooled (117)
DYS389I
9 10 11 12
0.132 0.660 0.189 0.019
0.050 0.700 0.250 –
0.167 0.500 0.333 –
0.111 0.641 0.239 0.009
15 16 17 18
0.019 0.774 0.094 0.113
0.025 0.775 0.150 0.050
0.083 0.542 0.333 0.042
0.034 0.726 0.162 0.077
21 22 23 24 25
0.038 0.038 0.226 0.566 0.132
– 0.050 0.200 0.675 0.075
– 0.042 0.250 0.667 0.042
0.017 0.043 0.222 0.624 0.094
9 10 11 12
0.019 0.283 0.679 0.019
0.025 0.350 0.625 –
0.042 0.333 0.625 –
0.025 0.316 0.650 0.009
10 12 13 14 15
– 0.113 0.736 0.132 0.019
0.025 0.150 0.725 0.100 –
– 0.125 0.750 0.125 –
0.009 0.128 0.735 0.120 0.009
1 (þ) 0.038 0 () 0.962
0.175 0.825
0.083 0.917
0.094 0.906
DYS389IIa
DYS390
DYS391
DYS393
DYS287 (YAP)
Table 2 Number of alleles (n) and gene diversity (D) for the seven Y-linked loci analysed (number of individuals in parenthesis) System
a
For DYS389II, the number of repeats was obtained by subtracting the length of the corresponding DYS389I allele [7].
Majorca (53)
Minorca (40)
Valencia (24)
Pooled (117)
DYS19 n D
4 0.542
5 0.541
4 0.546
5 0.550
DYS389I n D
4 0.511
3 0.445
3 0.611
4 0.520
DYS389II n D
4 0.379
4 0.374
4 0.587
4 0.440
DYS390 n D
5 0.608
4 0.496
4 0.489
5 0.551
DYS391 n D
4 0.458
3 0.487
3 0.497
4 0.477
DYS393 n D
4 0.428
4 0.441
3 0.406
5 0.429
DYS287 (YAP) n 2 D 0.073
2 0.289
2 0.152
2 0.170
Average n D
3.6 0.439
3.3 0.470
4.1 0.448
3.9 0.428
Table 3 Haplotype frequencies of the seven Y-chromosome loci in the populations studied DYS19
DYS389I
DYS389II
DYS390
DYS391
DYS393
DYS287
12 13 13 13 13 13 13 13 14 14 14 14 14 14 14 14 14 14 14 14
10 9 9 10 10 11 11 11 9 9 9 9 10 10 10 10 10 10 10 10
18 17 17 17 18 16 16 17 16 16 16 18 16 16 16 16 16 16 16 16
24 24 24 24 24 23 24 22 23 24 25 25 23 23 23 24 24 24 24 24
10 10 11 10 10 11 9 10 10 11 11 10 10 11 11 10 10 10 11 11
12 13 13 13 13 13 13 13 12 13 13 13 13 13 13 13 13 14 10 12
þ þ þ þ þ þ þ
Majorca
Minorca
Valencia
1 1 1 1 1 1 1 1 1 1 1 1
1
2 1
1 1
1 1 2 1 1 1
2
Pooled 1 1 1 1 1 1 1 1 1 2 1 1 2 2 1 4 1 2 1 1
G. Jime´ nez et al. / Forensic Science International 124 (2001) 231–234
233
Table 3 (Continued ) DYS19
DYS389I
DYS389II
DYS390
DYS391
DYS393
DYS287
Majorca
Minorca
Valencia
Pooled
14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 14 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 16 16 16 16 16 16 16 16 16
10 10 10 10 10 10 10 10 10 10 10 10 10 11 11 11 11 11 11 11 11 11 12 9 9 9 9 9 9 10 10 10 10 10 10 10 10 10 10 10 11 11 11 11 10 10 10 10 10 10 10 10 11
16 16 16 16 16 16 16 17 17 17 17 18 18 15 16 16 16 16 16 16 17 18 16 15 16 16 16 17 17 16 16 16 16 16 16 16 17 17 18 18 16 16 16 17 15 16 16 16 16 16 17 18 16
24 24 24 25 25 25 23 24 24 24 24 23 24 24 23 23 24 24 24 24 24 24 23 25 24 24 25 22 22 22 23 23 23 24 24 25 23 24 21 21 23 23 24 24 23 23 23 23 24 24 23 22 25
11 11 12 11 11 11 11 10 10 11 11 10 11 11 10 11 10 11 11 11 11 11 11 10 10 11 10 10 10 11 9 11 11 10 11 11 11 11 10 10 10 11 11 11 10 9 10 11 11 11 10 10 11
13 14 13 12 13 14 12 12 13 13 13 12 13 13 12 13 13 12 13 14 13 13 13 13 14 13 14 13 14 13 12 13 14 13 13 13 13 12 13 14 13 13 12 13 12 12 13 14 12 14 15 13 13
þ þ þ þ þ
8 1 1
6 1
1 1
15 3 1 1 3 1 1 1 2 3 1 1 1 2 1 3 2 1 7 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 5 1 1 1 1 1 1 1 1 2 1 1 2 1 1 1 1 1 1
1 3 1 1 1 1 1
1 2 1
1 1 1 1
1 1 1 3
2 2 1 1
3 1
1 1 1 1 1 1 1 1 1 1 1 1 1 5 1 1 1 1 1 1 1 1 2 1 1 2 1 1 1 1 1 1
G. Jime´ nez et al. / Forensic Science International 124 (2001) 231–234
234
Table 4 Y-chromosome haplotype information based on seven loci (DC: discrimination capacity; HD: haplotype diversity) Population
Number of individuals
Number of haplotypes
DC (%)
HD
Majorca Minorca Valencia Pooled
53 40 24 117
37 31 19 73
69.8 77.5 79.2 62.4
0.967 0.976 0.978 0.976
Acknowledgements This work was supported by Grant PM97-0041 from the Direccio´ n General de Ensen˜ anza Superior (Spain). C.T. is a recipient of a FPI Fellowship from the Ministerio de Eduacio´ n y Cultura (Spain).
References [1] A. Gonza´ lez-Neira, L. Gusma˜ o, M. Brio´ n, M.V. Lareu, A. Amorim, A. Carracedo, Distribution of Y-chromosome STR defined haplotypes in Iberia, Forensic Sci. Int. 110 (2000) 117–126. [2] M. Aler, A. Gonza´ lez, M. Brio´ n, M. Gisbert, Y-chromosome STR haplotypes in an Spanish population sample, Progr. Forensic Genet. 8 (2000) 305–308.
0.014 0.016 0.019 0.008
[3] J. Sambrook, E.F. Fritsch, T. Maniatis, Molecular Cloning: a Laboratory Manual, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, 1989. [4] L. Gusma˜ o, A. Gonza´ lez-Neira, C. Pestoni, M. Brio´ n, M.V. Lareu, A. Carracedo, Robustness of the Y STRs DYS19, DYS389 I and II, DYS390 and DYS393: optimization of a PCR pentaplex, Forensic Sci. Int. 106 (1999) 163–172. [5] A. Pe´ rez-Lezaun, F. Calafell, E. Mateu, D. Comas, R. Ruı´zPacheco, J. Bertranpetit, Microsatellite variation and the differentiation of modern humans, Hum. Genet. 99 (1997) 1–7. [6] S. Schneider, D. Roessli, L. Excoffier, A Software for Population Genetics Data Analysis, Arlequin Version 2.000, Genetics and Biometry Laboratory, University of Geneva, Switzerland, 2000. [7] G. Cooper, W. Amos, D. Hoffman, D.C. Rubinsztein, Network analysis of human Y microsatellite haplotypes, Hum. Mol. Genet. 5 (1996) 1759–1766.