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Journal of Southern Medical University logoLink to Journal of Southern Medical University
. 2017 Feb 20;37(2):141–149. doi: 10.3969/j.issn.1673-4254.2017.02.01

Polymorphism analysis of 20 autosomal short-tandem repeat loci in southern Chinese Han population

中国南方汉族人群20个常染色体STR基因座的多态性分析

Ling CHEN 1,#, Huijie LU 1,#, Weian DU 1, Pingming QIU 1,*, Chao LIU 1,2,*
PMCID: PMC6779668  PMID: 28219855

Abstract

Objective

To evaluate the value of PowerPlex®21 System (Promega) and study the genetic polymorphism of its 20 short-tandem repeat (STR) loci in southern Chinese Han population.

Methods

We conducted genotyping experiments using PowerPlex®21 System on 20 autosomal STR loci (D3S1358, D1S1656, D6S1043, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433 and FGA) in 2367 unrelated Chinese Han individuals living in South China. The allele frequencies and parameters commonly used in forensic science were statistically analyzed in these individuals and compared with the reported data of other populations.

Results

The PowerPlex® 21 System had a power of discrimination (PD) ranging from 0.7839 to 0.9852 and a power of exclusion (PE) ranging from 0.2974 to 0.8099 for the 20 loci. No significant deviation from Hardy-Weinberg expectations was found for all the loci except for D5S818. This southern Chinese Han population had significant differences in the allele frequencies from 8 ethnic groups reported in China, and showed significant differences at 8 to 20 STR foci from 5 foreign populations. The allele frequency at the locus D1S1656 in this southern Chinese Han population differed significantly from those in the 5 foreign populations and from 3 reported Han populations in Beijing, Zhejiang Province and Fujian Province of China. The neighbor-joining phylogenetictree showed clustering of all the Asian populations in one branch, while the northern Italian and Argentina populations clustered in a separate branch. This southern Chinese Han population had the nearest affinity with the Yi ethnic population in Yunnan Province of China.

Conclusion

The 20 STR loci are highly polymorphic in this southern Chinese Han population, suggesting the value of this set of STR loci in forensic personal identification, paternity testing and anthropological study.

Keywords: short-tandem repeat, population genetics, Han population

INTRODUCTION

The PowerPlex®21 System is a widely used commercial kit for short-tandem repeat (STR) genotyping[1-3] , which yields reliable results with a robust design[4] . Developed by Promega Corporation in 2012, this system has been shown to have a good inhibitor tolerance, a rapid PCR protocol and a good compatibility with direct amplification of FTA card punches and pretreated swabs[3] . This system contained 17 combined DNA index system (CODIS) loci (the original set including D3S1358, D13S317, D16S539, D18S51, CSF1PO, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179 and FGA with an additional set including D1S1656, D2S1338, D12S391 and D19S433) and D6S1043, Penta E and Penta D, which contains more loci than other widely used kits such as PowerPlex 16 System (Promega, Madison, WI, USA), AmpFℓ STR Identifier System (Applied Biosystems, Foster City, CA, USA), AmpFℓ STR Sinofiler System and GoldeneyeTM DNA ID system 20A kit (Goldeneye Ltd, Beijing, China).

So far in China little population-based genetic data of the PowerPlex®21 System have been available, especially in terms of the locus D1S1656. In this study, we carried out a population investigation using this kit among the Chinese Han population living in Guangdong Province of South China. The data we obtained may enrich the international DNA database that can be used as a reference for human identification in forensic studies and genetic diversity studies.

SUBJECTS AND METHODS

Population

Bloodstains and mouth swabs of 2367 unrelated Chinese Han individuals living in Guangdong Province in South China were collected from the Center of Forensic Science, Southern Medical University (Guangzhou, China). The native birthplaces of these individuals were mostly Guangdong Province (1744 individuals), and a small portion of them were born in nearby provinces and regions including Guangxi Zhuang Autonomous Region (71 individuals), Hunan Province (196 individuals), Sichuan Province (175 individuals), Jiangxi Province (83 individuals) and Hubei Province (97 individuals). Informed consent to participating in this study was obtained from all the individuals.

DNA Extraction and PCR amplification

Genomic DNA was extracted according to the Chelex-100 method and proteinase K protocol[5] . The extracted DNA was amplified using the PowerPlex®21 System (Promega) in the GeneAmp 9700 PCR System (Applied Biosystems) following the manufacturer's protocol.

Genotyping and quality control

The PCR products were detected by capillary electrophoresis in ABI 3130xl Genetic Analyzer (Applied Biosystems) using CC5 ILS 500 size standard and reference allelic ladder provided along with the PowerPlex®21 System. Data analysis and genotyping were performed automatically using GeneMapper ID v3.2 software (ABI Company, Forster City, USA). The internal controls (negative control and the 2800 M DNA positive control) were genotyped along with each batch of samples to ensure the reproducibility and accuracy of the results.

Data analysis

The allelic frequencies, matching probability, power of discrimination, power of exclusion, polymorphism information content and typical paternity index were calculated using the PowerStats V12.xls software (<a href="http://www.promega.com/geneticidtools/">http://www.promega.com/geneticidtools/</a>). The P values of exact test of Hardy-Weinberg's equilibrium, expected heterozygosity and observed heterozygosity were calculated using Genepop software (<a href="http://genepop.curtin.edu.au/">http://genepop.curtin.edu.au/</a>). The allele frequencies in this southern Chinese Han population were compared with the published data of other populations using Fst pairwise distance by Arlequin v3.5 software<sup>[<xref ref-type="bibr" rid="b6">6</xref>]</sup> . A phylogenetic tree showing the inter-population relationshipwas constructed with the neighbor-joining method and based on Fst distances with 1000 bootstrap replications by software package POPTREE2<sup>[<xref ref-type="bibr" rid="b7">7</xref>]</sup> according to the allele frequency data of 15 shared STR loci (D3S1358, D13S317, D16S539, D18S51, D2S1338, CSF1PO, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D19S433 and FGA) from this present study and 13 reported populations. A principal component analysis (PCA) plot was drawn with Past 3.11 software<sup>[<xref ref-type="bibr" rid="b8">8</xref>]</sup> based on allelic frequencies of 15 STRs.

RESULTS

Tab. 1 shows the statistical parameters of the 20 STR loci in this Han population. In this population, the expected heterozygosity ranged from 0.6040 (TPOX) to 0.9120 (Penta E), and the observed heterozygosity ranged from 0.6054 (TPOX) to 0.9071 (Penta E); the and 0.9852 (Penta E), and the combined power of discrimination for the 20 STR loci was over 0.999 999 999 999 999 999 999 999 999 999. The power of exclusionvaried between 0.2974 (TPOX) and 0.8099 (PentaE), and the combined probability of excluding paternity for the 20 loci was over 0.999 999 999 999 999 999 999 999 999 999. The polymorphism information content varied between 0.5428 (TPOX) and 0.9053 (Penta E). Among all the studied loci, no significant deviations from Hardy-Weinberg expectations were observed after Bonferroni correction[9] except for the locus D5S818 (P＜0.0025).

1.

Allele frequencies and forensic parameters of 20 STR loci in the southern Chinese Han population (n=2367)

Allele D3S1358 D1S1656 D6S1043 D13S317 Penta E D16S539 D18S51 D2S1338 CSF1PO Penta D
MP: Matching probability; PD: Power of discrimination; He: Expected heterozygosity; Ho: Observed heterozygosity; PE: Power of exclusion; PIC: Polymorphism information content; TPI: Typical paternity index; P: P values of exact test for Hardy-Weinberg Equilibrium.
5 0.0008 0.0537
6 0.0006 0.0015
7 0.0015 0.0006 0.0042 0.011
8 0.3004 0.0034 0.0042 0.0004 0.0036 0.0577
9 0.0006 0.0017 0.1464 0.0101 0.2577 0.037 0.3555
10 0.0002 0.0346 0.1436 0.0465 0.1289 0.0004 0.2381 0.1301
11 0.0782 0.1172 0.222 0.1753 0.2664 0.0027 0.2427 0.1293
11.2 0.0002
12 0.0008 0.0382 0.1314 0.1367 0.1147 0.2307 0.0399 0.383 0.1519
12.3 0.0011
13 0.0025 0.1001 0.1284 0.0387 0.0556 0.0963 0.1747 0.0756 0.1041
14 0.0433 0.0856 0.1417 0.0095 0.0915 0.0144 0.2047 0.0142 0.0465
15 0.3289 0.2858 0.0137 0.0004 0.0898 0.0008 0.1922 0.0002 0.0011 0.0097
15.3 0.2172
16 0.3185 0.0013 0.003 0.0661 0.1327 0.0125 0.0004 0.0019
16.1 0.0074
16.3 0.0809
17 0.2351 0.0646 0.0349 0.071 0.0746 0.0706 0.0004
17.3 0.2172 0.0008
17.4 0.0004
18 0.0634 0.0131 0.1745 0.0676 0.0509 0.1056
18.2 0.0002
18.3 0.0213 0.0002
18.4 0.0008
19 0.007 0.0011 0.1487 0.0509 0.0425 0.1865
19.3 0.0032 0.0002
19.4 0.0015
20 0.0004 0.0528 0.045 0.0315 0.1183 0.0002
20.3 0.0002 0.0019
21 0.0093 0.03 0.0205 0.0321
21.3 0.0019
21.4 0.0002
22 0.0011 0.0104 0.0182 0.0494 0.0002
22.3 0.0006
23 0.0068 0.008 0.1895
23.3 0.0002
24 0.0049 0.004 0.1576
25 0.0025 0.0019 0.0644
26 0.0002 0.0108
26.4 0.0002
27 0.0004 0.0019
27.2 0.0002
28 0.0002
32.3 0.0002
MP 0.1246 0.0452 0.0298 0.0683 0.0148 0.0807 0.0355 0.0326 0.117 2 0.0627
PD 0.8754 0.9548 0.9702 0.9317 0.9852 0.9193 0.9645 0.9674 0.8828 0.9373
He 0.7293 0.8353 0.8745 0.7983 0.912 0.7835 0.8598 0.8666 0.7306 0.8005
Ho 0.7385 0.8411 0.8779 0.7795 0.9071 0.7765 0.8678 0.864 0.7313 0.7968
PE 0.4903 0.6693 0.7505 0.5615 0.8099 0.5562 0.7302 0.7226 0.4783 0.5931
PIC 0.6808 0.8167 0.8611 0.7692 0.9053 0.749 0.8444 0.8521 0.686 0.7777
TPI 1.912 3.0661 4.0952 2.2672 5.3795 2.2372 3.7812 3.6755 1.8608 2.4605
P 0.459 0.0739 0.0073 0.0692 0.2293 0.8005 0.0457 0.49 0.4388 0.7557
Allele TH01 vWA D21S11 D7S820 D5S818 TPOX D8S1179 D12S391 D19S433 FGA
4 0.0002
5 0.0002
6 0.1065 0.0002 0.0002
7 0.2759 0.003 0.0294 0.0004
8 0.0511 0.15 0.0038 0.5454 0.0008
8.3 0.0002
9 0.4827 0.061 0.072 0.1109 0.0006 0.0006
9.1 0.0044
9.2 0.0004
9.3 0.0349 0.0004
10 0.0475 0.1569 0.2121 0.0279 0.1343
10.1 0.0013
11 0.0013 0.3579 0.2997 0.2917 0.1189 0.0034
11.1 0.0013
12 0.226 0.2269 0.0228 0.1196 0.0399
12.1 0.0002
12.2 0.007
13 0.0008 0.0334 0.1464 0.0006 0.2026 0.2881 0.0023
13.2 0.0393
14 0.286 0.0032 0.0087 0.1768 0.2431 0.0006
14.2 0.0995
15 0.0285 0.0002 0.0008 0.1595 0.0169 0.0775
15.2 0.1512
16 0.1728 0.0735 0.0057 0.0139 0.0017
16.2 0.0311
17 0.2193 0.0114 0.0752 0.0008 0.0027
17.2 0.0036
17.4
18 0.1929 0.0017 0.192 0.027
18.2 0.0004
18.3 0.0002
18.4
19 0.0811 0.0002 0.0002 0.2019 0.0558
20 0.0165 0.1857 0.0484
20.1 0.0002
20.2 0.0002
21 0.0021 0.1314 0.1305
21.2 0.0032
21.4
22 0.0982 0.1715
22.2 0.0061
23 0.0518 0.2153
23.2 0.0114
24 0.0249 0.1544
24.2 0.0061
25 0.0125 0.094
25.2 0.0068
26 0.0025 0.048
26.2 0.0015
27 0.0019 0.0011 0.0084
27.2 0.0004
28 0.0463 0.0032
28.2 0.0044
29 0.2683 0.0002
29.2 0.0015
30 0.2655
30.2 0.0087 0.0002
30.3 0.0034
31 0.0999
31.1 0.0002
31.2 0.0733
32 0.0304
32.2 0.1403
33 0.0046
33.1 0.0002
33.2 0.0446
34 0.0011
34.2 0.0053
MP 0.156 0.0729 0.0553 0.0863 0.0782 0.2161 0.0402 0.0393 0.0567 0.0324
PD 0.844 0.9271 0.9447 0.9137 0.9218 0.7839 0.9598 0.9607 0.9433 0.9676
He 0.6736 0.7956 0.8175 0.769 0.7863 0.604 0.8504 0.8517 0.8149 0.8659
Ho 0.6726 0.801 0.7985 0.7634 0.7782 0.6054 0.8323 0.8424 0.8103 0.8597
PE 0.3871 0.6009 0.5962 0.533 0.5592 0.2974 0.6602 0.68 0.6183 0.7141
PIC 0.6271 0.7649 0.7946 0.7356 0.7536 0.5428 0.8319 0.8341 0.7914 0.8516
TPI 1.5271 2.5127 2.4811 2.1134 2.2543 1.2671 2.9811 3.1729 2.6359 3.5648
P 0.0059 0.0624 0.0159 0.9213 0.0013 0.3513 0.2767 0.1334 0.193 0.142
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The differences between this Chinese Han population and other populations are shown in Tab. 2 and Tab. 3. Fst distance was used to compare this population and 13 other reported populations in relation to the allele frequencies of 15 autosomal STR loci. The neighbor-joining phylogenetic tree generated is shown in Fig. 1. The Northern Italian and Argentinian populations were clustered by one branch, and the Asian populations were clustered by another branch. Seven Chinese ethnic minority groups containing Hui (Qinghai), Miao (Guizhou), Dong (Guizhou), Miao (Guangxi), Hui (Guangxi), Yi (Guangxi) and Yi (Yunnan) were clustered by one small branch, and Tu (Qinghai) was far away from the other ethnic minority groups. The southern Chinese Han population in this study was near Yi (Yunnan) group.

2.

Genetic distances between the southern Chinese Han population and 8 reported Chinese ethnic minority populations (Fst and P values)

Locus Yi (Guangxi) Hui (Guangxi) Miao (Guangxi) Dong (Guizhou) Miao (Guizhou) Tujia (Qinghai) Hui (Qinghai) Yi (Yunnan)
Fst P Fst P Fst P Fst P Fst P Fst P Fst P Fst P
*: Significant differentiation test P values. NA: Data not available.
D3S1358 -0.0006 0.4505 -0.0031 0.9369 0.0101 0.0270* -0.0001 0.4414 0 0.4234 -0.0009 0.5496 0.0014 0.0000* 0.0184 0.0090*
D1S1656 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA
D6S1043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA
D13S317 0.0111 0.0090* 0.0001 0.3333 0.0019 0.2162 0.0007 0.1261 0.0043 0.0090* -0.0015 0.6667 0.0055 0.0000* -0.0038 0.955
Penta E NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA
D16S539 0.0445 0.0000* 0.0428 0.0000* 0.0364 0.0000* 0.0612 0.0000* 0.0897 0.0000* -0.0023 0.8649 0.0545 0.0000* -0.0017 0.6577
D18S51 -0.0011 0.7207 -0.002 0.8919 -0.0009 0.5766 -0.0005 0.8829 0.001 0.0901 -0.002 0.8198 0.0008 0.0180* 0.002 0.1441
D2S1338 0.0062 0.0000* 0.0024 0.0811 -0.0007 0.5496 0.0005 0.1171 0.0017 0.0000* -0.0017 0.8649 -0.0001 0.5856 0.0029 0.1712
CSF1PO 0.0056 0.0631 0.0006 0.2613 0.0021 0.1892 -0.0006 0.7297 0.0031 0.0000* -0.0023 0.8198 -0.0002 0.7928 -0.0017 0.6577
Penta D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA
TH01 -0.0007 0.4865 0.0109 0.0000* -0.001 0.4594 -0.0007 0.8108 0.0009 0.1532 -0.0024 0.8469 0.0009 0.0090* -0.0011 0.4595
vWA 0.0046 0.0451* -0.0008 0.4955 0.0031 0.0901 0.002 0.0000* 0.0052 0.0000* 0.0106 0.0000* 0.0061 0.0000* -0.002 0.7027
D21S11 0.0039 0.0360* -0.001 0.5676 -0.0019 0.8288 -0.0001 0.4505 0.0007 0.1892 -0.0011 0.6216 0.0002 0.2252 0.0074 0.0180*
D7S820 0.0231 0.0000* -0.0011 0.5405 -0.0001 0.4414 0.0018 0.0360* 0.004 0.0180* -0.0016 0.0000* 0.0024 0.0000* -0.0027 0.7748
D5S818 -0.0001 0.3964 0.0038 0.0811 -0.0002 0.4054 -0.0007 0.8919 -0.0003 0.5315 0.004 0.0631 0.0034 0.0000* -0.0004 0.4775
TPOX 0.0014 0.1892 -0.0019 0.6667 -0.0024 0.7297 0.0033 0.0270* 0.0137 0.0000* -0.0029 0.9099 0.0001 0.3694 -0.0029 0.7748
D8S1179 0.0056 0.0270* 0.0047 0.0270* 0.0038 0.0721 -0.0001 0.5225 0.0063 0.0000* 0.0033 0.1261 0.004 0.0000* -0.0008 0.5315
D12S391 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA
D19S433 0 0.4414 -0.0008 0.6396 0.0002 0.3423 0.001 0.0631 0.0065 0.0000* -0.0007 0.5586 0.0004 0.0991 0.0023 0.1982
FGA 0.0115 0.0000* -0.0006 0.5405 0.0068 0.0180* 0.0017 0.0000* 0.0061 0.0000* 0.0012 0.2342 0.1224 0.0000* 0.0008 0.2973
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3.

Genetic distances between the southern Chinese Han population and some different foreign populations (Fst and P values)

Locus Japanese Philippine Korean Northern Italian Argentinian
Fst P Fst P Fst P Fst P Fst P
*: Significant differentiation test P values. NA: Data not available.
D3S1358 0.0038 0.0000* 0.0074 0.0270* 0.0038 0.0000* 0.0174 0.0000* 0.0105 0.0000*
D1S1656 0.0625 0.0000* 0.0574 0.0000* 0.067 0.0000* 0.0333 0.0000* 0.0435 0.0000*
D6S1043 NA NA 0.0032 0.0721 NA NA NA NA NA NA
D13S317 0.0039 0.0000* 0.0065 0.0000* 0.0015 0.0721 0.0453 0.0000* 0.0508 0.0000*
Penta E 0.0047 0.0000* 0.0005 0.3423 0.0032 0.0000* 0.025 0.0000* 0.0153 0.0000*
D16S539 0.002 0.0000* 0.001 0.2523 -0.0003 0.4234 0.0084 0.0000* 0.0008 0.1081
D18S51 0.0005 0.0991 0.0056 0.0270* 0.0007 0.1441 0.0063 0.0000* 0.0097 0.0000*
D2S1338 0.0055 0.0000* 0.001 0.2523 0.0004 0.2252 0.0333 0.0000* 0.0204 0.0000*
CSF1PO 0.002 0.0090* 0.001 0.2432 -0.0003 0.4955 0.0084 0.0090* 0.0008 0.1261
Penta D 0.0055 0.0000* 0 0.5676 0.0014 0.0721 0.0262 0.0000* 0.0322 0.0000*
TH01 0.0154 0.0000* 0.001 0.2342 0.0038 0.0090* 0.1316 0.0000* 0.144 0.0000*
vWA 0.0083 0.0000* 0.0167 0.0000* 0.0059 0.0000* 0.025 0.0000* 0.051 0.0000*
D21S11 0.0038 0.0000* 0.0043 0.0360* 0.0065 0.0000* 0.0072 0.0000* 0.0071 0.0000*
D7S820 0.0038 0.0000* 0.0039 0.0901 -0.0007 0.7658 0.0249 0.0000* 0.0134 0.0000*
D5S818 0.0005 0.0901 0.0014 0.2162 -0.0002 0.4595 0.031 0.0000* 0.0358 0.0000*
TPOX 0.0101 0.0000* -0.0012 0.5586 0.0039 0.0090* 0.0037 0.0360* 0.009 0.0000*
D8S1179 0.0009 0.0000* 0.0072 0.0000* -0.0001 0.4595 0.0114 0.0000* 0.0127 0.0000*
D12S391 0.0039 0.0000* 0.0033 0.0270* 0.0051 0.0000* 0.0099 0.0000* 0.0028 0.0000*
D19S433 0.0076 0.0000* 0.0074 0.0090* 0.0009 0.1261 0.0169 0.0000* 0.0207 0.0000*
FGA 0.0017 0.0000* 0.0003 0.3423 -0.0003 0.5225 0.0043 0.0000* 0.0145 0.0000*
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1.

1

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Neighbor-joining tree based on Fst distances estimated among the 14 populations. The northern Italian and Argentinian populations were clusteredto one branch andthe other populations were clustered to another branch; Hui (Qinghai), Miao (Guizhou), Dong (Guizhou), Miao (Guangxi), Hui (Guangxi), Yi (Guangxi) and Yi (Yunnan) populations were clustered to one small branch.

Principal component analysis of allele frequencies in this Han population under study and 13 reported populations was performed. As shown in Fig. 2, the Argentinian and northern Italian populations were on the left upper quadrant, and 6 Chinese ethnic minority populations were up on the right. The Japanese, Philippine and Korean populations were on the left lower quadrant. The southern Chinese Han population under study and Yi (Yunnan) population were on the right lower quadrant.

2.

2

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Principal component analysis plot based on allele frequencies of the 20 loci in the 14populations. The Argentinian and northern Italian populations were clusteredon the left upper quadrant; The Chinese Hui (Qinghai), Miao (Guizhou), Dong (Guizhou), Miao (Guangxi), Hui (Guangxi), and Yi (Guangxi) populations were clustered up on the right; The Japanese, Philippine and Korean populations were clustered on the left lower quadrant. The southern Chinese Han population and the Yi (Yunnan) population were clustered on the right lower quadrant.

DISCUSSION

In this study, we evaluated the performance of PowerPlex®21 System and presented allele frequencies and forensically relevant statistical parameters of 20 STR loci in a Chinese Han population in South China.

A STR locus can be considered highly polymorphic when its PD value is over 0.80 or/and its PE value is over 0.50[10] . The results of this study showed that most of the examined loci were highly polymorphic. The combined discrimination power and the probability of excluding paternity of the 20 STR loci were both over 0.999 999 999 999 999 999 999 999 999 999, suggesting that PowerPlex®21 System is suitable for forensic personal identification and paternity testing.

We found that after Bonferroni correction (P＜0.05/ 20 [0.0025] ), the P value of exact test for Hardy-Weinberg equilibrium was less than 0.0025 (P= 0.0013) for the locus D5S818. This divergence from Hardy-Weinberg equilibrium may be due to an excess of homozygotes. In contrast, the discrepancies reported in this study can be easily identified by using two commercial kits from different manufacturers. We previously showed the existence of a silent allele of D5S818, caused by mutations at primer-binding sites, in 6 members of 3 paternity cases[11] . The primers for D5S818 in this system need to be optimized to better adapt to southern Chinese Han population.

In this southern Chinese Han population, we found significant differences from Yi (Guangxi) group[12] at 8 STR loci from, from Hui (Guangxi) group[12] at 3 STR loci, from Miao (Guangxi) group[12] at 3 STR loci, from Dong (Guizhou) group[13] at 5 STR loci, from Miao (Guizhou) group[14] at 10 STR loci, from Tujia (Qinghai) group[15] at 2 STR loci (vWA and D7S820), from Yi (Yunnan) group[16] at 2 STR loci (D3S1358 and D21S11), from Hui (Qinghai) group [17] at 10 STR loci, from Philippine group[18] at 9 STR loci, and from Korean group[19] at 8 STR loci. Significant differences were found in this Chinese Han population at all the loci except for D18S51 and D5S818 from the Japanese population [20] and at all these 20 STR loci from the northern Italian population [21] . Only two STR loci (D16S539 and CSF1PO) showed no significant differences between this southern Chinese Han population and the Argentinian population [22] . The southern Chinese Han population showed significant differences at the locus D1S1656 from 5 foreign populations and also from the Han populations in Beijing (P＜0.0001)[23] , Zhejiang Province (P＜0.0001)[24] and Fujian Province of China (P＜0.0001)[25] . These results indicate that D1S1656 hasa highly ethnic diversity and is suitable for Chinese population.

The neighbor-joining phylogenetic tree showed the clustering of all the Asian populations as one group and of the northern Italian and Argentinian populations as another. The southern Chinese Han population showed the nearest affinities to Yi (Yunnan) population. The cluster branch of the Chinese populations showed the nearest affinity between Guangxi and Guizhou minority populations, while the Tu (Qinghai) population branched away from the other Chinese populations. The phylogenetic tree showed that the populations were clustered basically consistent with their distributions on the continental plate. The result of principal component analysis was in agreement with the phylogenetic tree and indicated a clear pattern of regional distribution.

In conclusion, our results demonstrate that these 20 STR loci can provide highly informative polymorphic data for paternity testing, individual identification and genetic population studies. PowerPlex®21 System can serve as an efficient tool in forensic science and in anthropology of southern Chinese Han population.

Biographies

陈玲，副主任法医师，E-mail: lingpzy@163.com

陆慧洁，法医师，E-mail: 316450585@qq.com

Funding Statement

广东省自然科学基金（2014A030310025）；广东省医学科研基金（A2015043）；法医遗传学公安部重点实验室开放课题（2015FGKFKT03）

Supported by Natural Science Foundation of Guangdong Province (2014A030310025), Open Project of Key Laboratory of Forensic Genetics in Ministry of Public Security (2015FGKFKT03) and Medical Science and Technology Research Foundation of Guangdong Province (A2015043)

Contributor Information

(陈 玲)Ling CHEN, Email: lingpzy@163.com.

(陆 慧洁)Huijie LU, Email: 316450585@qq.com.

(邱 平明)Pingming QIU, Email: qiupm@163.com.

(刘 超)Chao LIU, Email: liuchaogzf@163.com.

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