Legal Medicine 10 (2008) 220–224 www.elsevier.com/locate/legalmed
Announcement of Population Data
Population data of 15 STR loci of Chinese Yi ethnic minority group Bo-Feng Zhu a,b,c,*, Chun-Mei Shen c,d, Qing-Ju Wu d, Ya-Jun Deng e,f b
a Key Laboratory of Environment and Gene Related to Diseases (Xi’an Jiaotong University), Ministry of Education, Shaanxi 710061, PR China The Key Laboratory of Public Health of Ministry for Forensic Sciences, School of Medicine, Xi’an Jiaotong University, Shaanxi 710061, PR China c Department of Forensic Medicine, School of Medicine, Xi’an Jiaotong University, Shaanxi 710061, PR China d Institute of Xi’an Blood Bank, Center of Shaanxi Blood Bank, Xi’an 710061, PR China e Beijing Genomics Institute, Chinese Academy of Sciences, Beijing101300, PR China f Center of Forensic Sciences, Beijing Genomics Institute, Chinese Academy of Sciences, Beijing 101300, PR China
Received 25 August 2007; received in revised form 18 December 2007; accepted 19 December 2007 Available online 4 February 2008
Abstract Allele frequency data and statistical parameters for D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA loci were determined in a sample of 120 healthy unrelated individuals of Chinese Yi ethnic minority group living in Yunnan province, China. We observed 132 alleles with allelic frequencies ranging from 0.0042 to 0.5333. The forensic statistical parameters from the data of all the loci showed high values. All loci were in accordance with Hardy–Weinberg equilibrium (p > 0.05). The obtained frequency distributions were compared with previously published other population data, and significant differences were found between Yi population and Korean, Chinese Tibetan, Uigur, Ewenki, Han, Hui population at some STR loci. Our results of present study were valuable for forensic application and Chinese population genetic studies. These population data enriched Chinese genetic informational resources. Ó 2007 Elsevier Ireland Ltd. All rights reserved. Keywords: Population data; STR; Chinese Yi ethnic minority group; AmpFLSTR Identifiler kit
General information on the studied population The Yi ethnic group, with a population of 6,578,500, is mainly distributed over the provinces of Sichuan, Yunnan and Guizhou, and the Guangxi Zhuang Autonomous Region. Yunnan Province has more than three million Yis, most of who are concentrated in an area hemmed in by the Jinsha and Yuanjiang rivers, and the Ailao and Wuliang mountains. Huaping, Ninglang and Yongsheng in western Yunnan form what is known as the Yunnan Lesser Liangshan Mountain area. Most Yis are scattered in mountain areas, some in frigid mountain areas at high * Corresponding author. Address: The Key Laboratory of Public Health of Ministry for Forensic Sciences, School of Medicine, Xi’an Jiaotong University, Shaanxi 710061, PR China. Tel.: +86 29 82655116; fax: +86 29 82655472. E-mail addresses:
[email protected], zhubofeng7372@126. com (B.-F. Zhu).
altitudes, and a small number live on flat land or in valleys. The Yi language belongs to the Tibetan-Myanmese Language Group of the Chinese-Tibetan Language Family, and the Yis speak six dialects. Many Yis know the Han (Mandarin) language. The Yis used to have a syllabic script called the old Yi language. It is estimated that the extant old Yi script has about 10,000 words, of which 1000 are words of everyday use. Historical records show that the ancestors of the Yi, Bai, Naxi, Lahu and Lisu ethnic groups were closely related with ancient Di and Qiang people in west China. In the period between the 2nd century B.C. and the early Christian era, the activities of the ancient Yis centered on the areas of Dianchi in Yunnan and Qiongdou in Sichuan. After the 3rd century B.C., the ancient Yis extended their activities from the Anning River valley, the Jinsha River, the Dianchi Lake and the Ailao Mountains to northeastern Yunnan, southern Yunnan, northwestern Guizhou and northwestern Guangxi.
1344-6223/$ - see front matter Ó 2007 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.legalmed.2007.12.004
B.-F. Zhu et al. / Legal Medicine 10 (2008) 220–224
Population Whole blood samples were randomly obtained from 120 unrelated healthy individuals of Chinese Yi ethnic minority group living in Honghe Yi ethnic autonomous region, Yunnan province of China. They were randomly chosen among individuals whose ancestors had lived in the region for at least three generations. DNA extraction Genomic DNA was extracted using the Chelex-100 protocol as described by Walsh et al. [1].
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Hardy–Weinberg expectations (HWE) were determined by calculating the observed heterozygosity, probability of homozygosity, probability of exact test [3]. Forensically significant parameters: the power of discrimination (PD), match probability (PM), and the power of exclusion (PE), the polymorphism information content (PIC) were computed using the PowerStat ver 1.2 spreadsheet (Promega Corporation, USA) as described [4] (http://www.promega.com). R C contingency test was employed for pairwise interpopulation comparisons [5]. Excel program and SPSS 11.5 software for Windows were used for data analysis [6]. Access to data
PCR Fifteen euchromosome STRs were coamplified in fluorescence-based multiplex reaction using AmpFLSTR Identifiler kit (Applied Biosystems, Foster City, CA, USA). 0.9 ll (2 ng/ll) genomic DNA samples were amplified in a total reaction volume of 10 ll. Thermal cycling conditions were conducted according to the manufacturer’s protocols of the kit. All loci were amplified in GeneAmp PCR System 9600 (PE Applied Biosystems, Foster City, CA, USA). Typing Electrophoresis detection and genotyping of all PCR products were separated using capillary electrophoresis on an ABI3130 DNA Genetic Analyzer (Applied Biosystems, Foster City, CA, USA). Allele designations were determined by comparison of the sample PCR fragments together with the allelic ladders provided with kit using GeneScan3.7 and Genotyper3.7. The alleles of all loci were named according to the number of repeat units present as recommended by the DNA Commission of the International Society of Forensic Haemodgenetics [2]. Results Allelic frequencies distribution and statistical parameters regarding the 15 STR loci of Chinese Yi population living in Yunnan Province of China were shown in Table 1. The results comparing Chinese Yi population with the previously publishing population data of other ethnic groups or areas are shown in Table 2. Quality control All steps were according to the Laboratory internal control standards and kit controls. Data analysis Allele and genotype frequencies were computed using direct gene counting method. Possible departures from
The complete data are available to any interested researchers via e-mail from corresponding author (
[email protected]). Other remarks Totally 132 alleles were observed, with the corresponding allele frequencies ranging from 0.0042 to 0.5333. The most frequent allele found for the TPOX locus is allele 8 in Yi population. The power of discrimination ranged from 0.7861 (TPOX) to 0.9664 (FGA), whereas the power of exclusion ranged from 0.3439 (D3S1358) to 0.7280 (D2S1338) and the probability of match ranged from 0.0336 (FGA) to 0.2139 (TPOX). All the loci are highly polymorphic (PIC > 0.5). The combined probability of exclusion, power of discrimination, probability of matching value for all 15 STR loci were 0.9999953, 0.999999999999999945 and 5.491 10 17, respectively. All loci were in accordance with Hardy–Weinberg equilibrium (p > 0.05). We also compared our results with previously published population data at the same 15 STR loci by the method of R C contingency test. Statistically significant differences were found between Yi population and other populations from Chinese Hui population in the Ningxia Hui Autonomous Region [7] at D5S818 (p = 0.046) locus; Chinese Han population in Guangdong Province [8] at D5S818 (p = 0.028) locus; Chinese Uigur ethnic group [9] at TH01(p < 0.001), D2S1338 (p = 0.029) locus; Chinese Tibetan in Qinghai Province [10] at D3S1358 (p = 0.009), vWA (p = 0.002), TH01(p < 0.001), D19S433(p = 0.009), D5S818 (p = 0.019), D2S1338 (p = 0.035), FGA (p = 0.003) loci; Korean population [11] at D16S539 (p < 0.001), D21S11 (p = 0.023), D7S820 (p < 0.001), CSF1PO (p = 0.024), D13S317 (p < 0.001), D5S818 (p = 0.013), FGA (p = 0.006), D2S1338 (p = 0.021), TH01 (p = 0.001); and Chinese Ewenki ethnic minority [12] at D5S818 (p = 0.049) locus, respectively. No signification differences were observed between our studied population and Chinese Dongxiang [13], Tu [14], Salar ethnic minority living in Qinghai Province of China [13] ethnic minority group. Our population genetic data were valuable
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Table 1 Allele frequencies and statistical parameters regarding the 15 STR loci of Chinese Yi ethnic minority group Allele 6 7 8 9 9.3 10 11 12 12.2 13 13.2 14 14.2 15 15.2 16 16.2 17 18 19 20 21 21.2 22 22.2 23 23.2 24 24.2 25 25.2 26 26.2 27 28 29 30 30.2 31 31.2 32 32.2 33 33.2 34.2 Ho He PD PE PIC PM p Allele 6 7 8 9 9.3 10 11 12 12.2
D8S1179
D21S11
D7S820
CSF1PO
D3S1358
0.0167 0.1667 0.0542
0.0458
0.1458 0.0625 0.1458
0.1250 0.3917 0.2167
0.2250 0.2208 0.4292
0.1750
0.0458
0.0542
0.1667
0.0083
0.0917
0.4458
0.0083 0.0042
0.1083 0.0333 0.0083
D2S1338
DS19S433
0.7750 0.7512 0.8981 0.5535 0.7161 0.1019 0.5994
0.6750 0.7110 0.8732 0.3907 0.6664 0.1268 0.3442 vWA
0.0083
0.1125 0.0042
0.0042
D16S539
0.1292 0.2542 0.0917 0.4500 0.0208 0.0542
0.3125 0.1292
0.0083 0.2083
0.1417 0.2167 0.1583
0.1708 0.2708 0.1833
0.0333
0.1500
0.0083
0.0083
0.7500 0.7920 0.9249 0.5098 0.7623 0.0751 0.2142
0.7917 0.7979 0.9219 0.5837 0.7667 0.0781 0.7946
0.0292 0.3708
0.8083 0.8463 0.9521 0.6146 0.8275 0.0479 0.1986
D13S317
0.0042
0.2000
0.0333 0.3833 0.2208 0.0417 0.0583 0.0875 0.0292 0.1125 0.0042 0.0250 0.0042 0.7667 0.7762 0.9239 0.5387 0.7503 0.0761 0.7353
THO1
0.6417 0.6499 0.7947 0.3439 0.5859 0.2053 0.8005 TPOX
0.6667 0.7044 0.8719 0.3786 0.6626 0.1281 0.3268 D18S51
D5S818
0.5333 0.1292
0.0042 0.0042 0.0500
0.0417 0.2625 0.0333
0.1875 0.2792 0.2583
0.0333
FGA
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Table 1 (continued) Allele
D2S1338
13 13.2 14 14.2 15 15.2 16 16.2 17 18 19 20 21 21.2 22 22.2 23 23.2 24 24.2 25 25.2 26 26.2 27 28 29 30 30.2 31 31.2 32 32.2 33 33.2 34.2 Ho He PD PE PIC PM p
DS19S433
vWA
0.2708 0.0292 0.2792 0.0833 0.0458 0.1125 0.0083 0.0458 0.0792 0.0750 0.2417 0.1083 0.1000
TPOX
D18S51
D5S818
0.0208
0.2000
0.2083
0.2375
0.2792
0.0083
0.0417
0.2208
0.1833
0.1042
0.2208 0.1750 0.1000 0.0167
0.0375 0.0250 0.0375 0.0250 0.0333
0.0375
FGA
0.0042 0.0708 0.0458 0.0500 0.1125 0.0125 0.1958 0.0083 0.1542 0.0167 0.1750 0.0375 0.0667 0.0042 0.0208 0.0167 0.0083
0.0042
0.1875 0.1125 0.0250 0.0125 0.0208
0.8667 0.8575 0.9551 0.7280 0.8424 0.0449 0.8606
0.8250 0.8111 0.9374 0.6462 0.7875 0.0626 0.7703
0.8333 0.8181 0.9371 0.6623 0.7928 0.0629 0.7360
0.6417 0.6272 0.7861 0.3439 0.5740 0.2139 0.7868
0.7917 0.8162 0.9379 0.5837 0.7925 0.0621 0.4268
0.7833 0.7742 0.9042 0.5685 0.7368 0.0958 0.8760
0.8500 0.8778 0.9664 0.6949 0.8661 0.0336 0.2859
Ho, observed heterozygosity; He, expected heterozygosity; PD, power of discrimination; PE, probability of exclusion; PIC, polymorphism information content; PM, matching probability; p, probability values of exact tests for Hardy–Weinberg disequilibrium.
Table 2 The results comparing Chinese Yi population with the previously publishing population data of other ethnics or areas Population D8S1179 D21S11 D7S820 CSF1PO D3S1358 THO1 D13S317 D16S539 D2S1338 DS19S433 vWA TPOX D18S51 D5S818 FGA Dongxiang Salar Hui Han Uigur Tibetan Korean Ewenki Tu
0.460 0.398 0.970 0.239 0.140 0.174 0.184 0.836 0.335
0.183 0.440 0.427 0.492 0.558 0.178 0.023 0.254 0.360
0.556 0.322 0.659 0.980 0.107 0.437 0.000 0.497 0.610
0.839 0.426 0.832 0.603 0.222 0.752 0.024 0.724 0.895
0.190 0.054 0.230 0.284 0.072 0.009 0.077 0.132 0.299
0.290 0.254 0.774 0.358 0.000 0.000 0.001 0.095 0.320
The statistically significant p-values (p < 0.05) are indicated in bold.
0.998 0.916 0.436 0.973 0.089 0.101 0.000 0.803 0.724
0.641 0.790 0.532 0.730 0.160 0.396 0.000 0.110 0.912
0.222 0.330 0.219 0.568 0.029 0.035 0.021 0.130 0.148
0.472 0.409 0.655 0.062 0.119 0.009 0.068 0.089 0.757
0.982 0.507 0.685 0.665 0.188 0.002 0.297 0.496 0.320
0.530 0.793 0.184 0.645 0.298 0.634 0.794 0.520 0.611
0.304 0.160 0.080 0.238 0.688 0.111 0.930 0.651 0.611
0.154 0.233 0.046 0.028 0.156 0.019 0.013 0.049 0.122
0.792 0.219 0.269 0.465 0.590 0.003 0.006 0.254 0.635
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for human identification and paternity tests in Chinese Yi ethnic minority population in the region, and Chinese population genetic studies. Acknowledgments This project was supported by National Natural Science Foundation of China (NSFC, No. 30700470). This project was supported by the Item of Science Technology Foundation of Shaanxi Province, PR China [2007K0805(3)]. References [1] Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 1991;10:506–13. [2] Ba¨r W, Brinkmann B, Budowle B, Carracedo A, Gill P, Lincoln P, et al. DNA recommendations further report of the DNA commission of the ISFH regarding the use of short tandem repeat systems. Int J Legal Med 1997;110:175–6. [3] Guo SW, Thompson EA. Performing the exact test of Hardy– Weinberg proportion for multiple alleles. Biometrics 1992;48:361–72. [4] Tereba A. Tools for analysis of population statistics. Profiles DNA 1999;2:14–6.
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