Forensic Science International 127 (2002) 150–155

Announcement of population data

Genetic polymorphism at nine microsatellite loci in four
high altitude Himalayan desert human populations
R. Trivedi, P. Chattopadhyay, B. Maity, V.K. Kashyap*
DNA Typing Unit, Central Forensic Science Laboratory, 30 Gorachand Road, Kolkata 700014, India
Received 5 April 2002; accepted 6 April 2002

Abstract

Allele frequencies for the nine STR loci of Profiler Plus STR markers were analyzed in 307 healthy unrelated individuals
belonging to four predominant highly important endogamous population groups of Ladakh. The studied loci are found highly
informative in human identification and understanding history of peopling of India. This is the first report on DNA Markers on
any high altitude desert human population group.

Keywords: Genetic database; Profiler Plus nine STRs; High altitude Indian populations; Ladakh

Area of study: Ladakh, a gateway to Indian subcontinent, Balti: The majority tribal group between Muslim and
is located at 30.00N and 80.00E of altitude between 9000 presumably the descendants of the Scythians (Saka). The
and 17,500 ft high from the sea level, an area of 59,000 km2 total population size is about 9000.
of rocky desert, apparently inhospitable mountains, having DNA extraction: From buccal swabs by phenol chloro-
one of the lowest population densities in the world (two form method [1].
inhabitants per kilometer) framed in a parallel fashion by PCR: A 2 ng target DNA following manufacturer’s
two of the most imposing mountain ranges, the Karakorams instructions (AmpFlSTR Profiler Plus PCR amplification
to the north and the Himalayas to the south. kit) [2].
Population information: Ladakh is inhabitant by Mon- Typing: Products were detected on long ranger gel using
goloid, Tibetian, Dardic and Assorted Indo-Aryan elements. ABI prism automated DNA sequencer, in respect to refer-
The studied populations namely Argon, Balti, Drokpa and ence sequenced ladders (PE Applied Biosystems).
Buddhist are main among them. Analysis of data: Applied software mentioned in [3].
Buddhist: One of the major mongoloid tribal population Result: Presented in Tables 1–5.
of Ladakh. The population size is 40,000 approximately. Quality control: Laboratory internal control standards
Argon: Descendant of unions between Ladakhi women and kit controls.
and non-Ladakhi men of different groups like Turk, Pathan, Access of data: Via electronic mail from communicating
Muslims, Rajput, etc., who came as traders to Ladakh many author.
centuries ago. The population size is about 5000. Analysis of data: DNA TYPE (Windows 95/NTVer.
Drokpa: A tribal group, descendants of the Dards and Chakraborty and Zhong, CHG, University of Texas). Prob-
have migrated from Gilgit, also known as Broq-pa or Shin. ability of exclusion and power of discrimination [3].
They call themselves as pure Aryan. The population size is Other remarks: This is the first comprehensive study of
about 10,000. allele frequency distribution of any DNA markers in any
high altitude population group. All the Profiler Plus loci are
found highly polymorphic and informative and suitable for
*
Corresponding author. Tel.: þ91-33-284-1753; human identification. Significant variations in allele fre-
fax: þ91-33-284-1753. quencies were observed among the lower frequent alleles
E-mail addresses: [email protected], among the studied and compared populations [4–9]. The
[email protected] (V.K. Kashyap). most frequent and least observed alleles at different loci

0379-0738/02/$ – see front matter

PII: S 0 3 7 9 - 0 7 3 8 ( 0 2 ) 0 0 0 9 7 - X
 R. Trivedi et al. / Forensic Science International 127 (2002) 150–155 151

Table 1
Allele frequencies for nine STR loci in Buddhist (N ¼ 156) population of Ladakh

Allele D3S1358 VWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820

7 – – – – – – 0.021 – –
8 – – 0.036 – – – 0.228 0.121
9 – – – – – – 0.028 0.121 0.114
10 – – – 0.121 – – 0.171 0.121 0.192
11 – – – 0.028 – – 0.336 0.228 0.307
12 – – – 0.092 – 0.065 0.300 0.214 0.185
13 – – – 0.186 – 0.203 0.143 0.064 0.042
13.2 – – – – – – – – –
14 0.121 0.107 – 0.228 – 0.254 – 0.014 0.004
15 0.307 0.043 – 0.243 – 0.116 – 0.007 0.028
15.2 – – – – – – – –
16 0.371 0.257 – 0.036 – 0.145 – – –
17 0.150 0.264 – – – 0.022 – – –
18 0.042 0.193 0.100 0.021 – 0.080 – – –
19 0.007 0.121 0.028 0.007 – 0.080 – – –
20 – 0.014 0.078 – – 0.029 – – –
21 – – 0.078 – – 0.007 – – –
21.2 – – 0.007 – – – – – –
22 – 0.020 0.164 – – – – – –
23 – – 0.250 – – – – – –
23.2 – – 0.007 – 0.007 – – – –
24 – – 0.114 – – – – –
24.2 0.007 0.007
25 – – 0.014 – – – – – –
25.2 0.014
26 – – 0.007 – – – – – –
26.2 – – 0.014 – – – – – –
27 – – 0.014 – 0.021 – – – –
28 – – 0.029 – 0.136 – – – –
28.2 – – – – 0.007
29 – – – – 0.286 – – – –
30 – – – – 0.214 – – – –
30.2 – – – – 0.043 – – – –
31 – – – – 0.057 – – – –
31.2 – – – – 0.050 – – – –
32 – – – – 0.007 – – – –
32.2 – – – – 0.100 – – – –
33.2 – – – – 0.036 – – – –
34 0.014
34.2 0.014
H 0.828 0.900 0.800 0.814 0.828 0.826 0.786 0.842 0.671
PH 0.151 0.460 0.952 0.732 0.999 0.000 0.566 0.091 0.004
LR 0.082 0.473 0.565 0.468 0.493 0.000 0.561 0.029 0.215
ET 0.197 0.489 0.302 0.570 0.501 0.000 0.692 0.053 0.472
PD 0.730 0.799 0.873 0.827 0.834 0.841 0.746 0.817 0.805
PE 0.545 0.741 0.786 0.409 0.528 0.499 0.662 0.599 0.509
N, samples studied; H, observed heterozygosity; PH, probability of homozygosity; LR, likelihood ratio; ET, exact test; PD, power of
discrimination; PE, probability of exclusion.

among four studied groups of populations, differ from the Indian populations, as so far bio-anthropological researches in
other populations of India [4–9], are mentioned in the Ladakh area are very scanty. Furthermore, the present popu-
Table 5.The information can also be used for assessing the lation study can also be used for peopling of India.
genetic variation among these highly significant populations The work was carried from the grant under IXth plan
of the country and thus can be used for tracing the history of project of CFSL, Kolkata.
152 R. Trivedi et al. / Forensic Science International 127 (2002) 150–155

Table 2
Allele frequencies for nine STR loci in Argon (N ¼ 51) population of Ladakh

Allele D3S1358 VWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820

7 – – – – – – 0.015 – –
8 – – – – – – – 0.212 0.045
9 – – – 0.015 – – – 0.045 0.288
10 – – – 0.288 – – 0.121 0.121 0.045
11 – – – 0.061 – – 0.397 0.348 0.333
12 – – – 0.167 – 0.106 0.288 0.090 0.227
13 – 0.076 – 0.167 – 0.364 0.197 0.151 0.060
14 0.015 0.257 – 0.197 – 0.318 – 0.015 –
15 0.439 0.090 – 0.061 – 0.091 – 0.015 –
15.2 0.015 – – – – – – – –
16 0.379 0.227 – 0.030 – 0.015 – – –
17 0.121 0.136 – 0.015 – 0.015 – – –
18 0.030 0.167 0.076 – – 0.091 – – –
19 – 0.030 – – – – – – –
20 – 0.015 0.212 – – – – – –
21 – – 0.136 – – – – – –
22 – – 0.181 – – – – – –
23 – – 0.136 – – – – – –
24 – – 0.182 – – – – – –
24.2 0.030 – – – – – –
27 – – 0.045 – – – – – –
28 – – – – 0.136 – – – –
28.2 – – – – 0.015 – – – –
29 – – – – 0.348 – – – –
30 – – – – 0.106 – – – –
30.2 – – – – 0.015 – – – –
31 – – – – 0.045 – – – –
31.2 – – – – 0.045 – – – –
32 – – – – 0.015 – – – –
32.2 – – – – 0.227 – – – –
33.2 – – – – 0.030 – – – –
34 0.015 – – – –
H 0.878 0.778 0.939 0.879 0.697 0.667 0.788 0.818 0.758
PH 0.037 0.195 0.000 0.670 0.241 0.000 0.223 0.017 0.172
LR 0.000 0.065 0.000 0.258 0.000 0.000 0.141 0.000 0.128
ET 0.000 0.051 0.000 0.320 0.000 0.000 0.129 0.000 0.172
PD 0.684 0.821 0.844 0.814 0.792 0.738 0.706 0.786 0.747
PE 0.411 0.354 0.677 0.328 0.411 0.489 0.587 0.487 0.428
N, samples studied; H, observed heterozygosity; PH, probability of homozygosity; LR, likelihood ratio; ET, exact test; PD, power of
discrimination; PE, probability of exclusion.

Table 3
Allele frequencies for nine STR loci in Drokpa (N ¼ 33) population of Ladakh

Allele D3S1358 VWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820

7 – – – – – – 0.020 0.020 –
8 – – – 0.060 – – 0.100 0.400 0.160
9 – – – – – – 0.160 – 0.040
10 – – – 0.120 – – 0.120 0.240 0.480
11 – – – 0.220 – – 0.260 0.100 0.140
12 – – – 0.040 – 0.160 0.280 0.160 0.180
13 – – – 0.060 – 0.080 0.040 0.020 –
 R. Trivedi et al. / Forensic Science International 127 (2002) 150–155 153

Table 3 (Continued )

Allele D3S1358 VWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820

14 0.100 0.060 – 0.280 – 0.080 0.020 0.040 –

15 0.260 0.220 – 0.180 – 0.220 – 0.020 –
16 0.120 0.260 – 0.040 – 0.360 – – –
17 0.280 0.200 – – – – – – –
18 0.120 0.080 – – – 0.100 – – –
19 – 0.100 0.080 – – – – – –
20 – 0.040 – – – – – – –
21 – 0.020 0.080 – – – – – –
21.2 – – 0.020 – – – – – –
22 – 0.020 0.300 – – – – – –
23 – – 0.160 – – – – – –
24 – – 0.280 – – – – – –
24.2 0.020 – – – – – –
25 – – 0.040 – – – – – –
28 – – – – 0.100 – – – –
29 – – – – 0.300 – – – –
30 – – – – 0.140 – – – –
30.2 – – – – 0.040 – – – –
31 – – – – 0.020 – – – –
31.2 – – – – 0.100 – – – –
32.2 – – – – 0.200 – – – –
33.2 – – – – 0.060 – – – –
34.2 0.020 – – – –
35.2 0.020 – – – –
H 0.840 0.920 0.840 0.960 0.840 0.960 0.800 0.680 0.600
PH 0.062 0.624 0.759 0.003 0.748 0.000 0.158 0.753 0.030
LR 0.093 0.195 0.165 0.000 0.115 0.001 1.000 0.224 0.016
ET 0.146 0.243 0.205 0.000 0.156 0.002 0.012 0.176 0.012
PD 0.815 0.822 0.791 0.816 0.824 0.774 0.802 0.744 0.690
PE 0.456 0.471 0.681 0.421 0.441 0.381 0.594 0.468 0.461
N, samples studied; H, observed heterozygosity; PH, probability of homozygosity; LR, likelihood ratio; ET, exact test; PD, power of
discrimination; PE, probability of exclusion.

Table 4
Allele frequencies for nine STR loci in Balti (N ¼ 67) population of Ladakh

Allele D3S1358 VWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820

8 – – – – – – 0.008 0.258 0.181

9 – – – – – – 0.025 0.091 0.069
10 – – – 0.095 – – 0.283 0.167 0.190
11 – – – 0.069 – – 0.400 0.092 0.164
12 – – – 0.121 – 0.129 0.233 0.158 0.241
13 0.017 – – 0.284 – 0.112 0.050 0.158 0.147
14 0.042 0.164 – 0.224 – 0.129 – 0.042 0.008
14.2 – – – – – 0.008 – – –
15 0.343 0.095 – 0.112 – 0.138 – 0.033 –
16 0.292 0.095 – 0.095 – 0.181 – – –
17 0.108 0.302 – – – 0.095 – – –
18 0.092 0.302 – – – 0.052 – – –
19 – 0.034 0.034 – – 0.138 – – –
20 – 0.008 0.017 – – – – – –
21 – – 0.026 – – – – – –
21.2 – – 0.017 – – – – – –
22 – – 0.199 – – – – – –
23 – – 0.216 – – 0.008 – – –
154 R. Trivedi et al. / Forensic Science International 127 (2002) 150–155

Table 4 (Continued )

Allele D3S1358 VWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820

24 – – 0.293 – – – – – –
24.2 0.008 – – – – – –
25 – – 0.120 – – 0.008 – – –
25.2 0.017 – – – – – –
26 – – 0.034 – – – – – –
27 – – 0.008 – – – – – –
28 – – – – 0.034 – – – –
28.2 – – 0.008 – – – – – –
29 – – – – 0.224 – – – –
30 – – – – 0.190 – – – –
30.2 – – – – 0.017 – – – –
31 – – – – 0.069 – – – –
32 – – – – 0.017 – – – –
32.2 – – – – 0.224 – – – –
33 – – – – 0.043 – – –
33.2 – – – – 0.008 – – – –
34 – – – – 0.026 – – – –
34.2 – – – – 0.034 – – – –
35.2 – – – – 0.008 – – – –
H 0.817 0.707 0.948 0.879 0.948 0.879 0.783 0.883 0.776
PH 0.001 0.138 0.938 0.024 0.215 0.000 0.119 0.000 0.000
LR 0.000 0.052 0.025 0.040 0.000 0.000 0.030 0.000 0.000
ET 0.001 0.021 0.066 0.127 0.000 0.000 0.054 0.000 0.000
PD 0.775 0.772 0.810 0.819 0.853 0.872 0.703 0.836 0.820
PE 0.421 0.293 0.685 0.399 0.364 0.611 0.699 0.581 0.469
N, samples studied; H, observed heterozygosity; PH, probability of homozygosity; LR, likelihood ratio; ET, exact test; PD, power of
discrimination; PE, probability of exclusion.

Table 5
Most frequent and least frequent allele for nine STR loci in four important population of Ladakh

Population Allele Loci

D3S1358 VWA FGA D8S1179 D21S11 D18S51 D5S818 D13S317 D7S820

Buddhist Most frequent 16 17 23 15 29 14 11 8, 11 11
Least frequent 19 20 23.2, 24.2, 26 19 23.2, 24.2, 21 7 15 14
28.2, 32
Argon Most frequent 15 14 20 10 29 13 11 11 11
Least frequent 14 20 24.2 9, 17 28, 30.2, 32, 34 16, 17 7 14, 17 8, 10
Drokpa Most frequent 17 16 22 14 29 16 12 8 10
Least frequent 14 21, 22 21.2, 24.2 12, 16 34.2, 35.2 14, 15 7, 14 7, 13, 15 8
Balti Most Frequent 15 17, 18 24 13 29, 32.2 16 11 8 12
Least frequent 13 20 24.2, 27, 28.2 11 33.2, 35.2 14.2, 23, 25 8 15 14

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