Forensic Science International: Genetics 22 (2016) e21–e24
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Correspondence Allele frequency distribution of 21 forensic autosomal STR loci of GoldeneyeTM DNA ID 22NC Kit in Chinese Tibetan group
Dear Editor, While a substantial amount of STR loci data on Chinese Tibetan ethnic minority have been published, no data about the STR loci of GoldeneyeTM DNA ID 22NC Kit in Tibetan group, up to now, has been reported. Here, we firstly presented the allele frequencies and forensic efficiency data for 21 STR loci of GoldeneyeTM DNA ID 22NC Kit (D19S253, D6S477, D22GATA198B05, D15S659, D8S1132, D3S1358, D3S3045, D14S608, D17S1290, D3S1744, D2S411, D18S535, D13S325, D7S1517, D10S1435, D11S2368, D4S2366, D1S1656, D7S3048, D10S1248 and D5S2500) in a sample of 216 unrelated healthy individuals of Chinese Tibetan ethnic minority group. With a sizable population of 5,416,021, Tibetans as one of 56 ethnic groups in China mainly distributed in Qinghai-Tibet Plateau, the highest plateau in the world remaining relatively isolated throughout history. The history of Tibetan dates back over 4000 years, and their ancestors inhabited an area along the banks of Yarlung Zangbo River. Besides, Tibetan ethnic minority believes in Tibetan Buddhism and has its own language which belongs to the Tibetan sub-branch of the Tibetan–Myanmese language branch of the Chinese–Tibetan language family. Informed consents were received from all participants and ethical approval was granted by the ethical committee of West China Hospital, Sichuan University. Dried blood spot specimens were collected from 216 unrelated Chinese Tibetan individuals. Polymerase chain reaction (PCR) was performed on Veriti 96 Well PCR/Thermal Cycler (Applied Biosystems, Foster City, CA, USA) for 27 cycles, according to the manufacturer’s instructions. Amplified PCR products were analyzed by capillary electrophoresis and detected on the ABI 3130 Genetic Analyzer (Applied Biosystems, Foster City, USA). GeneMapper ID Version 3.2 software (Applied Biosystems, Foster City, CA, USA) enabled data analysis and allele identification. The Laboratory internal control standards, recommendation published by the Paternity Testing Commission of the International Society for Forensic Genetics [1] and kit controls were followed throughout the experiment. The forensic parameters including allele frequencies, observed heterozygosity (Ho), expected heterozygosity (He), matching probability (MP), power of discrimination (PD), power of exclusion (PE), and typical paternity index (PI) were calculated using Powerstats Version 1.2 software package (Promega, Madison, WI, USA) [2]. Arlequin Version 3.11 [3] was used to test Hardy– Weinberg equilibrium (HWE) analysis, as well as estimate p-values
http://dx.doi.org/10.1016/j.fsigen.2016.02.008 1872-4973/ ã 2016 Elsevier Ireland Ltd. All rights reserved.
for exact test of population differentiation between Tibetan group and other groups published before [4–19]. Allelic frequencies and forensic parameters of 21 STR loci in Chinese Tibetan ethnic minority group are presented in Table 1. A total of 210 alleles and 635 genotypes were observed in the 21 STR loci respectively. The corresponding allelic frequencies ranged from 0.0023 to 0.3843 and the highest allele frequency was found in allele 13 at the D10S1248 locus. All 21 loci showed high genetic polymorphism in Tibetan ethnic minority group. The values of the Ho, He, MP, PD, PE, and PI ranged from 0.6713 to 0.8519, 0.7129 to 0.8653, 0.0361 to 0.1383, 0.8617 to 0.9639, 0.3853 to 0.6985, and 1.5211 to 3.3750, respectively. The combined power of discrimination (CPD) and combined power of exclusion (CPE) for all 21 STR loci were 0.99999999999999999999999643599 and 0.999999990515892 respectively. Deviations from Hardy–Weinberg equilibrium were detected at D2S411 (p = 0.0283), D7S1517 (p = 0.0379) and D4S2366 loci (p = 0.0035). However, after Bonferroni correction assuming that a 0.05 significance level obtained for twenty-one tests (one per locus) yields an actual significance threshold of 0.0024 [20], no loci was against the conditions of Hardy–Weinberg equilibrium. The p values for exact test were analyzed between the studied population and published population before from China and other countries. However, due to the limitation of published data, not all the 21 STR loci were compared simultaneously with another population. In total, Han in Northern China at 18 STR loci [4], Han in Southern China at 10 STR loci [5–7], Han in Central China at 9 STR loci [8,9], Han in Western China at 6 STR loci [10,11], Uygur at 10 STR loci [12,13], Mongolian at 6 STR loci [14,15], German at 8 STR loci [16,17] and Poland at 9 STR loci [18,19] were compared with the present study respectively, and the p values for exact test are shown in Table 2. After applying Bonferroni correction, statistically significant differences were found between the present population and Han in Northern China at 1 STR loci, Han in Southern China at 1 STR loci, Han in Central China at 2 STR loci, Uygur at 3 STR loci, Mongolian at 2 STR loci, German at 6 STR loci and Poland at 6 STR loci. For the six loci of Han in Western China, no statistically significant difference was found from those in Tibetan population. Concluding the analysis, we evaluated the allelic frequencies and forensic parameters of 21 STR loci of GoldeneyeTM DNA ID 22NC Kit in the population of Chinese Tibetan group for the first time, and performed exact test between Tibetan group and other groups published before. On the basis of analyzed parameters, these loci are effectively valuable for differentiation of individuals, parentage testing and development of database in this Tibetan population. Additionally, this data will also be beneficial to other population genetics and diversity studies. At last, this paper followed the ISFG recommendations on the analysis of the DNA polymorphisms and nomenclature [21], and
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Table 1 Allele frequencies and relevant statistical parameters of the 21 STR loci in Chinese Tibetan ethnic group (n = 216). Allele
D19S253
D6S477
D22GATA198B05
D15S659
D8S1132
D3S1358
D3S3045
6 7
D14S608
D17S1290
D3S1744
D2S411
D18S535
D13S325
D7S1517
D10S1435
D11S2368
0.1620 0.0046
0.0162
0.0023
D5S2500
0.0023 0.0023 0.0046
0.2801
0.1042
0.0023
0.1319
0.0023
0.2477
9.1
0.0046
0.0046 0.0093
0.0116
0.0139
0.0417
0.2130
0.0347
0.2546
0.0556
0.0185
0.0440
0.0023
0.0023
0.0208
0.0023
10.3
0.0046 0.1157
0.0162
0.1667
0.0301
0.1875
0.0185
0.3519
11.1
0.0324
0.1458
0.1157
0.3657
0.3750
0.0465
0.0046
0.2847
0.1782
0.0651
0.0718
0.1968 0.0394
0.0023
11.3
0.0046
12
0.3704
0.0162 0.0972
0.2083
0.1481
0.1435
0.0069
0.1435
12.2
0.0023
13
0.2176
0.2153
0.2037
0.0394
0.0116
0.0185
0.0394
0.3102
0.2708
0.0880
0.1116
0.3843
14
0.0671
0.1759
0.0023
0.0579
0.0185
0.2176
0.0023
0.0231
0.1065
0.1667
0.2662
0.1389
0.0417
0.0977
0.2315
0.0880
15
0.0139
0.2755
0.0255
0.1296
0.3032
0.0718
0.2060
0.1250
0.0185
0.0833
0.0324
0.0023
0.2767
0.1968
0.2801
16
0.1759
0.0718
0.1736
0.0023
0.3727
0.0046
0.3171
0.1111
0.0023
0.0023
0.0856
0.0787
17
0.0255
0.1273
0.0810
0.0972
0.2245
0.0023
0.2153
0.0255
0.0069
17.3 18
0.0069
0.0833
0.0162
0.2083
0.0741
0.1134
0.1412
15.3
0.0023 0.0023
0.0023
0.3310
0.0046
0.0139
0.1852
0.0486
0.0023
0.0231
0.2488
0.1296
0.0953 0.0372
0.0116
0.0047
0.0671
0.1065
18.3
0.0116
19
0.0856
0.0046
0.2199
0.0046
0.0370
0.0833
0.2546
0.0671
0.1968
0.1227
20
0.1157
0.0023
0.1528
0.0023
0.0116
0.0347
0.3148
0.1296
0.1829
0.1829
21
0.3287
0.1343
0.0046
0.0046
22
0.1412
0.1088
23
0.0139
24
0.0046
0.1875
0.1597
0.2222
0.1134
0.1458
0.1458
0.0949
0.0602
0.0602
0.0347
0.1551
0.0347
0.1921
0.0162
0.0069
0.0972
0.0069
0.1435
25
0.1782
0.0023
0.0856
26
0.0231
0.0185
27
0.0231
0.0023
28
0.0046
MP
0.0889
0.0673
0.0538
0.0424
0.0489
0.1383
0.0697
0.0589
0.0700
0.0632
0.0925
0.0724
0.0871
0.0361
0.1106
0.0484
0.1063
0.0541
0.0382
0.1038
0.0826
PD
0.9111
0.9327
0.9462
0.9576
0.9511
0.8617
0.9303
0.9411
0.9300
0.9368
0.9075
0.9276
0.9129
0.9639
0.8894
0.9516
0.8937
0.9459
0.9618
0.8962
0.9174
PIC
0.7387
0.7773
0.8031
0.8338
0.8220
0.6608
0.7747
0.7978
0.7658
0.7853
0.7243
0.7622
0.7415
0.8503
0.7122
0.8193
0.7192
0.8010
0.8504
0.7091
0.7542
PE
0.6445
0.5837
0.6445
0.6985
0.6985
0.4268
0.5922
0.6356
0.5502
0.6181
0.4268
0.5502
0.5098
0.6356
0.5019
0.6008
0.3853
0.6164
0.6894
0.4941
0.6008
PI
2.8421
2.4000
2.8421
3.3750
3.3750
1.6615
2.4545
2.7692
2.2041
2.6341
1.6615
2.2041
2.0000
2.7692
1.9636
2.5116
1.5211
2.6220
3.2727
1.9286
2.5116
HE
0.7698
0.8053
0.8221
0.8515
0.8417
0.7129
0.8029
0.8218
0.7940
0.8083
0.7608
0.7910
0.7760
0.8653
0.7504
0.8395
0.7548
0.8224
0.8652
0.7469
0.7858
HO
0.8241
0.7917
0.8241
0.8519
0.8519
0.6991
0.7963
0.8194
0.7731
0.8102
0.6991
0.7731
0.7500
0.8194
0.7454
0.8009
0.6713
0.8093
0.8472
0.7407
0.8009
p
0.0661
0.5628
0.9983
0.9455
0.7398
0.6150
0.7524
0.8697
0.4084
1.0000
0.0283
0.4747
0.3259
0.0379
0.8181
0.1028
0.0035
0.5617
0.3872
0.7894
0.6322
MP: matching probability; PD: power of discrimination; PIC: polymorphism information content; PE: probability of exclusion; PI: typical paternity index; HO: observed heterozygosity; HE: expected heterozygosity; P: probability values of exact tests for Hardy–Weinberg equilibrium.
Correspondence / Forensic Science International: Genetics 22 (2016) e21–e24
10.2 11
D10S1248
0.0231
8.2
10
D7S3048
0.0046 0.0347
8.1 9
D1S1656
0.2500
7.1 8
D4S2366
0.0440
Correspondence / Forensic Science International: Genetics 22 (2016) e21–e24
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Table 2 p-Values for exact test between Tibetan population (n = 216) and 8 published populations [4,5–19] (For interpretation of the references to color in the table legend, the reader is referred to the web version of this article.).
The black bold values indicate less than 0.05, but no significant difference between present study population and the compared populations after Bonforroni correction. The red bold values indicate significant difference between present study population and the compared populations, even after Bonforroni correction.
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Haimei Gou1 Juan Zhou1 Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, PR China Yuwei Zhang1 Department of Endocrinology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, PR China
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Correspondence / Forensic Science International: Genetics 22 (2016) e21–e24
Chunwei Wang Xiaoyan Ma Huiying Ma Shengmei Li Department of Clinical Laboratory Medicine, Qinghai Red Cross Hospital, Xining 810000, Qinghai Province, PR China Xuejiao Hu Mengqiao Shang Jingya Zhang Minjin Wang Yi Zhou Yuanxin Ye Xingbo Song Jun Wang
Xiaojun Lu Binwu Ying* Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, PR China 1 These authors contributed equally to this article. * Corresponding author. Fax: +86 28 85422751. E-mail address:
[email protected] (B. Ying). Received 24 November Received in revised form 30 January Accepted 7 February Available online 18 February
2015 2016 2016 2016