Genetic diversity in four tribal groups of western India: a survey of polymorphism in 15 STR loci...

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Announcement of population data Genetic diversity in four tribal groups of western India: a survey of polymorphism in 15 STR loci and their application in human identification Sonali Gaikwad, V.K. Kashyap * DNATyping Unit, Central Forensic Science Laboratory, Ministry of Home Affairs, Government of India, 30 Gorachand Road, Kolkata 700014, West Bengal, India Received 18 November 2002; received in revised form 11 April 2003; accepted 14 April 2003 Abstract Genetic diversity at 15 STR loci: 2 pentanucleotide and 13 tetranucleotide STR loci was determined in four highly endogamous tribal groups, viz. Madia-Gond, Mahadeo-Koli, Katkari and Pawara of western India. The distribution of genotypes at studied 15 loci was found in agreement with expected values according to Hardy–Weinberg equilibrium. The combined power of discrimination of 15 loci was calculated as 0.80 while combined power of exclusion was observed as 0.53 among the studied four tribal groups. The study demonstrate very low heterozygosity and low power of exclusion of the loci of Powerplex 16 TM among the selected groups indicating less informativeness of the studied markers in human identification testing. # 2003 Published by Elsevier Science Ireland Ltd. Keywords: Maharashtra tribes; Genetic diversity; Powerplex 16 TM Brief account on the studied tribal populations of Maharashtra [1,2]: All the four tribal groups selected for the study belonged to Proto-Austroloid ethnicity, live in different areas of the remote forest and hilly tracts of Maharashtra state; highly endogamous groups because of geographical isolation and archaic life-style. 1. Madia-Gond comprises of sub-groups who carry out different services and profession. This group is a principal tribe of Dravidian family and speaks aboriginal dialect called ‘Gondi’ and emigrant from the south to central province during mediaeval period where they ruled the entire belt under the Gondwana dynasty. They practice shifting cultivation supplemented by collection of jungle product and hunting. Population size is 275,000 approximately. 2. Katkari are ancient, indigenous and low in social hierarchy who leads nomadic life due to poorest economy amongst all the tribes of the state; makers of catechu juice. They speak local Marathi dialect mixed with many words from Hindi and Gujarati language. Population size is 150,000 approximately. 3. Mahadeo-Koli, are the populous hilly tribal group, ranked second in the state in terms of population (size is 300,000 approximately). They migrated from Mahadeo hills and settled in the valley around 14th century where they have adopted seasonal cooperative working group for agricultural activities based on lineage; joined the Indian freedom struggle movement of 1942. 4. Pawara originated in Nandurbar district of Maharashtra and use Pawara as their surname. They have highest incidence of sickle cell gene disorder and pulmonary tuberculosis amongst the studied tribes; practice agri- culture and are farm laborers. Their population size is 250,000 approximately DNA extraction: Phenol chloroform method [3]. Multiplex PCR: Two nanograms of template DNA and Powerplex 16 TM kit reagents following manufacturer’s instructions [4]. Forensic Science International 134 (2003) 225–231 * Corresponding author. Tel.: þ91-33-284-1753; fax: þ91-33-284-1753. E-mail addresses: [email protected], [email protected] (V.K. Kashyap). 0379-0738/03/$ – see front matter # 2003 Published by Elsevier Science Ireland Ltd. doi:10.1016/S0379-0738(03)00166-X

Transcript of Genetic diversity in four tribal groups of western India: a survey of polymorphism in 15 STR loci...

Announcement of population data

Genetic diversity in four tribal groups of western India:a survey of polymorphism in 15 STR loci and their

application in human identification

Sonali Gaikwad, V.K. Kashyap*

DNA Typing Unit, Central Forensic Science Laboratory, Ministry of Home Affairs, Government of India,

30 Gorachand Road, Kolkata 700014, West Bengal, India

Received 18 November 2002; received in revised form 11 April 2003; accepted 14 April 2003

Abstract

Genetic diversity at 15 STR loci: 2 pentanucleotide and 13 tetranucleotide STR loci was determined in four highly

endogamous tribal groups, viz. Madia-Gond, Mahadeo-Koli, Katkari and Pawara of western India. The distribution of genotypes

at studied 15 loci was found in agreement with expected values according to Hardy–Weinberg equilibrium. The combined power

of discrimination of 15 loci was calculated as 0.80 while combined power of exclusion was observed as 0.53 among the studied

four tribal groups. The study demonstrate very low heterozygosity and low power of exclusion of the loci of Powerplex 16TM

among the selected groups indicating less informativeness of the studied markers in human identification testing.

# 2003 Published by Elsevier Science Ireland Ltd.

Keywords: Maharashtra tribes; Genetic diversity; Powerplex 16TM

Brief account on the studied tribal populations of

Maharashtra [1,2]: All the four tribal groups selected for

the study belonged to Proto-Austroloid ethnicity, live in

different areas of the remote forest and hilly tracts of

Maharashtra state; highly endogamous groups because of

geographical isolation and archaic life-style.

1. Madia-Gond comprises of sub-groups who carry out

different services and profession. This group is a

principal tribe of Dravidian family and speaks aboriginal

dialect called ‘Gondi’ and emigrant from the south to

central province during mediaeval period where they

ruled the entire belt under the Gondwana dynasty. They

practice shifting cultivation supplemented by collection

of jungle product and hunting. Population size is

275,000 approximately.

2. Katkari are ancient, indigenous and low in social

hierarchy who leads nomadic life due to poorest

economy amongst all the tribes of the state; makers of

catechu juice. They speak local Marathi dialect mixed

with many words from Hindi and Gujarati language.

Population size is 150,000 approximately.

3. Mahadeo-Koli, are the populous hilly tribal group,

ranked second in the state in terms of population (size

is 300,000 approximately). They migrated from

Mahadeo hills and settled in the valley around 14th

century where they have adopted seasonal cooperative

working group for agricultural activities based on

lineage; joined the Indian freedom struggle movement

of 1942.

4. Pawara originated in Nandurbar district of Maharashtra

and use Pawara as their surname. They have highest

incidence of sickle cell gene disorder and pulmonary

tuberculosis amongst the studied tribes; practice agri-

culture and are farm laborers. Their population size is

250,000 approximately

DNA extraction: Phenol chloroform method [3].

Multiplex PCR: Two nanograms of template DNA and

Powerplex 16TM kit reagents following manufacturer’s

instructions [4].

Forensic Science International 134 (2003) 225–231

* Corresponding author. Tel.: þ91-33-284-1753;

fax: þ91-33-284-1753.

E-mail addresses: [email protected],

[email protected] (V.K. Kashyap).

0379-0738/03/$ – see front matter # 2003 Published by Elsevier Science Ireland Ltd.

doi:10.1016/S0379-0738(03)00166-X

Table 1

Genotype frequencies at 15 STR loci in Madia-Gond tribe of Maharashtra (number of chromosomes analyzed ¼ 90)

Allele Loci Allele Loci

Penta D THO1 CSF1PO D7S820 D13S317 D5S818 D16S539 TPOX D18S51 Penta E D3S1358 VWA D8S1179 D21S11 FGA

16

2.2 17

3.2 17.2

4 18

5 0.056 19 0.077

6 0.095 0.080 19.2

7 0.040 0.238 0.040 20 0.038

8 0.040 0.048 0.240 0.120 0.020 0.120 0.211 21 0.308

9 0.240 0.500 0.060 0.080 0.160 0.080 0.184 0.025 21.2 0.038

9.3 0.048 22 0.115

10 0.080 0.071 0.280 0.220 0.280 0.080 0.080 0.079 0.056 0.125 23 0.077

10.2 24 0.154

11 0.320 0.300 0.280 0.160 0.440 0.440 0.526 0.024 0.083 0.075 25 0.154

11.3 26 0.038

12 0.100 0.320 0.040 0.180 0.160 0.160 0.095 0.305 0.075 26.2

13 0.010 0.040 0.060 0.060 0.280 0.080 0.119 0.194 0.121 0.100 27

13.2 27.2

14 0.080 0.020 0.040 0.333 0.167 0.060 0.190 0.150 28 0.109

15 0.071 0.400 0.035 0.275 28.2

16 0.143 0.111 0.220 0.241 0.125 29 0.174

17 0.095 0.200 0.241 0.050 29.2

18 0.024 0.120 0.138 30 0.304

19 0.024 0.027 0.034 30.2 0.043

19.2 31 0.087

20 0.071 31.2 0.087

21 32

22 32.2 0.087

23 33 0.022

24 33.2 0.043

27 34.2

35 0.021

35.2 0.021

36

37

38

38.2

45.2

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Table 2

Genotype frequencies at 15 STR loci in Mahadeo-Koli tribe of Maharashtra (number of chromosomes analyzed ¼ 90)

Allele Loci Allele Loci

Penta D THO1 CSF1PO D7S820 D13S317 D5S818 D16S539 TPOX D18S51 Penta E D3S1358 VWA D8S1179 D21S11 FGA

16

2.2 17 0.129

3.2 17.2 0.064

4 18 0.016

5 0.117 19

6 0.132 19.2 0.016

7 0.073 0.114 0.033 20 0.064

8 0.061 0.132 0.286 0.392 0.027 0.359 0.033 21 0.064

9 0.242 0.515 0.100 0.040 0.054 0.229 0.203 0.017 21.2

9.3 0.147 22 0.064

10 0.182 0.071 0.171 0.094 0.122 0.135 0.094 0.015 0.033 0.243 23 0.113

10.2 24 0.242

11 0.258 0.243 0.186 0.257 0.405 0.271 0.344 0.029 0.133 0.071 25 0.113

11.3 26 0.032

12 0.212 0.557 0.100 0.162 0.216 0.149 0.073 0.167 0.228 26.2

13 0.015 0.100 0.043 0.054 0.176 0.122 0.147 0.150 0.071 27 0.064

13.2 27.2

14 0.030 0.028 0.027 0.067 0.338 0.100 0.068 0.243 0.143 28 0.230 0.016

15 0.191 0.167 0.270 0.203 0.100 28.2

16 0.015 0.017 0.203 0.122 0.128 29 0.230

17 0.088 0.017 0.338 0.243 0.014 29.2

18 0.029 0.017 0.122 0.149 30 0.162

19 0.044 0.027 30.2 0.027

19.2 31 0.108

20 0.015 0.013 31.2 0.054

21 32

22 32.2 0.162

23 33

24 33.2 0.027

25 0.015 34.2

27 35

35.2

36

37

38

38.2

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Table 3

Genotype frequencies at 15 STR loci in Katkari tribe of Maharashtra (number of chromosomes analyzed ¼ 144)

Allele Loci Allele Loci

Penta D THO1 CSF1PO D7S820 D13S317 D5S818 D16S539 TPOX D18S51 Penta E D3S1358 VWA D8S1179 D21S11 FGA

16 0.037

2.2 0.015 17

3.2 0.015 17.2

4 0.081 0.007 18

5 0.022 0.051 0.100 0.019 0.007 19 0.087

6 0.022 0.176 0.049 0.062 0.016 19.2 0.037

7 0.060 0.110 0.049 0.023 0.030 0.046 0.019 0.040 0.047 20 0.200

8 0.037 0.132 0.016 0.258 0.311 0.038 0.108 0.221 0.028 0.016 0.007 0.047 21 0.075

9 0.097 0.353 0.062 0.098 0.085 0.146 0.288 0.014 0.055 0.031 21.2 0.025

9.3 0.029 22 0.062

10 0.134 0.015 0.213 0.187 0.061 0.031 0.100 0.086 0.021 0.015 0.102 23 0.125

10.2 0.021 24 0.079 0.137

11 0.231 0.007 0.172 0.219 0.204 0.146 0.215 0.260 0.036 0.127 0.037 0.051 0.039 25 0.029 0.050

11.3 0.044 26 0.029 0.037

12 0.089 0.361 0.133 0.197 0.131 0.154 0.077 0.078 0.111 0.037 0.058 0.086 26.2 0.014

13 0.082 0.106 0.023 0.053 0.215 0.131 0.029 0.057 0.048 0.044 0.029 0.180 27

13.2 0.028 27.2 0.043

14 0.075 0.016 0.023 0.146 0.015 0.278 0.063 0.037 0.101 0.195 28 0.072 0.012

15 0.089 0.033 0.016 0.023 0.161 0.031 0.128 0.127 0.397 0.087 0.180 28.2 0.043

16 0.022 0.050 0.111 0.221 0.174 0.055 29 0.224 0.050

17 0.007 0.078 0.151 0.110 0.174 0.031 29.2 0.043

18 0.043 0.032 0.044 0.138 0.008 30 0.152

19 0.043 0.055 0.037 0.101 30.2 0.007 0.012

19.2 0.007 31 0.029

20 0.028 0.024 0.037 0.051 31.2 0.087 0.037

21 0.014 0.007 32 0.029

22 0.014 0.007 32.2 0.029

23 0.014 0.008 33

24 0.007 33.2

25 34.2 0.029

27 0.007 35

35.2 0.014

36 0.007

37 0.022

38 0.007

38.2 0.007

45.2 0.012

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Table 4

Genotype frequencies at 15 STR loci in Pawara tribe of Maharashtra (number of chromosomes analyzed ¼ 102)

Allele Loci Allele Loci

Penta D THO1 CSF1PO D7S820 D13S317 D5S818 D16S539 TPOX D18S51 Penta E D3S1358 VWA D8S1179 D21S11 FGA

16

2.2 17

3.2 0.010 17.2 0.011

4 18 0.011

5 0.010 0.020 0.061 19 0.011

6 0.019 0.275 19.2 0.011

7 0.039 0.204 0.019 0.010 0.020 0.041 0.010 20 0.117

8 0.102 0.245 0.235 0.010 0.040 0.290 0.009 0.030 21 0.011

9 0.137 0.286 0.030 0.176 0.078 0.039 0.120 0.170 0.009 0.061 21.2 0.021

9.3 0.051 22 0.127

10 0.186 0.061 0.230 0.186 0.147 0.117 0.130 0.110 0.009 0.020 0.010 0.200 23 0.181

10.2 24 0.276

11 0.353 0.220 0.274 0.343 0.314 0.310 0.360 0.059 0.173 0.050 25 0.117

11.3 26 0.042

12 0.108 0.410 0.039 0.186 0.157 0.270 0.050 0.078 0.071 0.010 0.140 26.2

13 0.078 0.090 0.029 0.265 0.070 0.127 0.102 0.010 0.160 27 0.020 0.053

13.2 27.2 0.010

14 0.049 0.010 0.029 0.059 0.060 0.284 0.051 0.092 0.108 0.170 28 0.060 0.011

15 0.010 0.010 0.039 0.137 0.143 0.286 0.137 0.120 28.2

16 0.098 0.081 0.296 0.215 0.090 29 0.180

17 0.019 0.051 0.194 0.235 0.030 29.2 0.030

18 0.068 0.041 0.102 0.167 30 0.150

19 0.059 0.041 0.010 0.118 30.2 0.060

19.2 31 0.050

20 0.031 0.010 31.2 0.180

21 0.031 32

22 0.009 32.2 0.180

23 33 0.010

24 0.019 33.2 0.070

25 34.2

27 0.009 35

35.2

36

37

38

38.2

45.2

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Table 5

Statistical parameters of forensic utility at 15 STR loci in four tribal populations of Maharashtra

HWE Loci

VWA D8S1179 TPOX FGA D3S1358 THO1 D21S11 D18S51 Penta E D5S818 D7S820 D13S317 D16S539 CSF1PO Penta D

Madia-Gond tribe (N ¼ 90)

H 0.897 0.800 0.632 0.769 0.840 0.571 0.826 0.762 0.778 0.840 0.880 0.800 0.800 0.800 0.840

ET 0.160 0.572 1.000 0.309 0.707 0.121 0.232 0.253 0.024 0.966 0.019 0.142 0.855 0.775 0.026

LR 0.125 0.477 0.989 0.330 0.446 0.136 0.233 0.294 0.013 0.920 0.005 0.157 0.824 0.733 0.028

PD 0.812 0.846 0.639 0.834 0.734 0.675 0.838 0.846 0.816 0.695 0.798 0.818 0.746 0.724 0.814

PE 0.789 0.599 0.331 0.543 0.675 0.258 0.648 0.531 0.559 0.675 0.755 0.599 0.599 0.599 0.675

Mahadeo-Koli tribe (N ¼ 90)

H 0.892 0.743 0.500 0.677 0.784 0.676 0.946 0.882 0.667 0.865 0.743 0.703 0.730 0.571 0.636

ET 0.671 0.117 0.112 0.000 0.662 0.505 0.051 0.713 0.000 0.009 0.068 0.120 0.095 0.178 0.001

LR 0.484 0.149 0.242 0.000 0.607 0.435 0.021 0.696 0.003 0.001 0.071 0.150 0.139 0.330 0.001

PD 0.803 0.832 0.703 0.877 0.752 0.673 0.826 0.810 0.876 0.740 0.819 0.741 0.813 0.615 0.792

PE 0.779 0.498 0.188 0.394 0.570 0.393 0.890 0.759 0.379 0.725 0.498 0.433 0.476 0.258 0.336

Katkari tribe (N ¼ 144)

H 0.841 0.703 0.711 0.800 0.617 0.706 0.696 0.743 0.794 0.754 0.672 0.667 0.631 0.721 0.791

ET 0.005 0.420 0.588 0.241 0.300 0.077 0.005 0.488 0.371 0.117 0.783 0.033 0.524 0.291 0.150

LR 0.005 0.385 0.061 0.161 0.109 0.001 0.001 0.398 0.390 0.000 0.855 0.125 0.541 0.006 0.067

PD 0.883 0.868 0.786 0.897 0.771 0.803 0.896 0.879 0.904 0.856 0.823 0.805 0.859 0.777 0.884

PE 0.677 0.433 0.446 0.599 0.312 0.438 0.422 0.498 0.588 0.517 0.386 0.379 0.330 0.461 0.582

Pawaras tribe (N ¼ 102)

H 0.902 0.940 0.640 0.787 0.775 0.633 0.900 0.804 0.857 0.784 0.804 0.706 0.760 0.680 0.725

ET 0.737 0.149 0.074 0.540 0.402 0.820 0.190 0.585 0.233 0.031 0.278 0.021 0.225 0.327 0.085

LR 0.617 0.060 0.140 0.703 0.439 0.864 0.182 0.437 0.379 0.026 0.249 0.023 0.240 0.359 0.121

PD 0.826 0.859 0.742 0.846 0.773 0.784 0.864 0.856 0.965 0.786 0.795 0.765 0.789 0.721 0.780

PE 0.799 0.878 0.342 0.575 0.554 0.332 0.795 0.606 0.709 0.569 0.606 0.438 0.527 0.398 0.468

HWE: Hardy–Weinberg equilibrium; H: heterozygosity; ET: Exact test; LR: Likelihood ratio; PD: power of discrimination; PE: power of exclusion; N: number of chromosome analysed.

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Genotyping: PAGE using ABI Prism 377 DNA Sequencer

and allelic ladder [4].

Results: The studied 15 STR loci were found to be less

polymorphic and low of information value among the four

tribes. Power of exclusion is low as compared to forward

community of state (Tables 1–5).

Quality control: Laboratory internal control standards

and kit controls.

Analytical tool: The frequency of different allele for

various locus was calculated by gene count method. The

Exact test and Likelihood ratio were carried out using DNA

TYPE software to find out possible divergence from Hardy–

Weinberg equilibrium [5], power of discrimination, power of

exclusion [6] were calculated for evaluating the statistical

probabilities related to human identity testing and under-

standing the genetic diversity in Indian populations [7–21].

Other remarks: The THO1 locus in Madia-Gond showed

low heterozygosity compared to reported populations,

CSF1PO locus was found to be less informative in Maha-

deo-Koli and Pawaras, Penta E locus was highly discrimi-

natory in all three tribes except in Madia-Gond where

D8S1179 was highly polymorphic.

This paper follows the guidelines for publication of

population data requested by the journal [22].

Acknowledgements

The work is carried out from the financial support of

Bureau of Police Research and development, Ministry of

Home Affairs, Government of India. The above study would

not have been possible without the active collaboration of

Dr. S.L. Kate, a Emeritus Medical Scientist, Pune in collec-

tion of blood samples from the consenting participants.

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