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. 2002 May;70(5):1107-24.
doi: 10.1086/339929. Epub 2002 Mar 15.

Y-chromosomal DNA variation in Pakistan

Raheel Qamar  1 , Qasim Ayub, Aisha Mohyuddin, Agnar Helgason, Kehkashan Mazhar, Atika Mansoor, Tatiana Zerjal, Chris Tyler-Smith, S Qasim Mehdi
Affiliations

Y-chromosomal DNA variation in Pakistan

Raheel Qamar et al. Am J Hum Genet. 2002 May.

Abstract

Eighteen binary polymorphisms and 16 multiallelic, short-tandem-repeat (STR) loci from the nonrecombining portion of the human Y chromosome were typed in 718 male subjects belonging to 12 ethnic groups of Pakistan. These identified 11 stable haplogroups and 503 combination binary marker/STR haplotypes. Haplogroup frequencies were generally similar to those in neighboring geographical areas, and the Pakistani populations speaking a language isolate (the Burushos), a Dravidian language (the Brahui), or a Sino-Tibetan language (the Balti) resembled the Indo-European-speaking majority. Nevertheless, median-joining networks of haplotypes revealed considerable substructuring of Y variation within Pakistan, with many populations showing distinct clusters of haplotypes. These patterns can be accounted for by a common pool of Y lineages, with substantial isolation between populations and drift in the smaller ones. Few comparative genetic or historical data are available for most populations, but the results can be compared with oral traditions about origins. The Y data support the well-established origin of the Parsis in Iran, the suggested descent of the Hazaras from Genghis Khan's army, and the origin of the Negroid Makrani in Africa, but do not support traditions of Tibetan, Syrian, Greek, or Jewish origins for other populations.

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Figures

Figure 1
Figure 1
Distribution of Y haplogroups in Pakistan. A, Unrooted maximum-parsimony tree showing Y haplogroups (numbers in circles) and mutations (on lines). Circle area is proportional to frequency in Pakistan. B–F, Frequencies of Y haplogroups in populations sampled. Circles represent populations and are placed in the approximate geographical location sampled; area is proportionate to sample size. BAL = Baluch; BLT = Balti; BRU = Brahui; BSK = Burusho; HZR = Hazara; KAL = Kalash; KSR = Kashmiri; MAKB = Makrani Baluch; MAKN = Makrani Negroid; PKH = Pathan; PRS = Parsi; and SDH = Sindhi. Haplogroup color codes are as in A. B, Haplogroup 1. C, Haplogroup 3. D, Haplogroups 21, 8, and 10. E, Haplogroup 9. F, Haplogroup 28.
Figure 2
Figure 2
Principal-components analysis of Y haplogroup frequencies. A, World data using 13 markers. B, Pakistani data using 18 markers. Population codes are as in figure 1. World data are shown as squares. Within Pakistan, Indo-European speakers are indicated by blackened triangles, Sino-Tibetan speakers by an unblackened triangle, Dravidian speakers by a circle, and the language-isolate Burusho by a diamond.
Figure 3
Figure 3
Multidimensional scaling presentation of weighted population pairwise values of ΦST. RSQ value = 0.81. Linguistic affiliations of populations are indicated as in figure 2B.
Figure 4
Figure 4
Median-joining network of haplogroup 1 individuals, based on their Y-STR haplotypes. Circles represent haplotypes and have an area proportional to frequency, except the circle designated 013+, which represents 13 Parsi individuals and has been reduced in size. Color represents the population of origin. STR differences are shown on the lines linking haplotypes.
Figure 5
Figure 5
Median-joining network of haplogroup 10 individuals, based on their Y-STR haplotypes. Conventions used are as in figure 4.
Figure 6
Figure 6
Median-joining network of haplogroup 28 individuals, based on their Y-STR haplotypes. Conventions used are as in figure 4, except that some STR differences are shown by colored lines to make a complex region of the network clearer.
Figure 7
Figure 7
Traditions of population origin supported by Y data. Solid arrows, movements also supported by historical data. Dashed arrows, movements also supported by oral traditions. Arrows indicate the country of origin or continent of origin (Negroid Makrani) but not the precise geographical location or route. Darker boundaries represent disputed borders.
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