Pakistan Research Repository


Mansoor, Atika (2003) GENETIC DIVERSITY IN PAKISTANI ETHNIC GROUPS IN A GLOBAL CONTEXT. PhD thesis, University of Karachi, Karachi.



Modern human beings are characterized by enormous genetic and morphological diversity. The present study shows genetic differences among ethnically diverse groups. Fifteen different world population groups were studied using microsatellite polymorphisms present on autosomes to find out their relationship with Pakistani populations, the Burusho, Sindhi and Brahui. Among the populations the greatest number of alleles and diversity was observed in sub-Saharan African populations which supports an “Out of Africa” model for human origin. Genetic differences among population were calculated by using proportion of shared alleles (Das) averaged over loci, (2) δμ2-the squared difference in the repeat size between population averaged across loci, (3) Principal Component Analysis of allele frequencies and (4) STRUCTURE, a model based analysis method. Genetic relationship were measured by phylogentic and principal component analysis. A phylogenetic tree based upon 182 autosomal microsatellite markers and a plot made by using the 1st and 3rd principal component planced most of the populations according to their geographical locations To investigate the genetic relationship between extant Greek and three Pakistani populations that clain Greek descent, Burusho, Kalash and Pathan, autosomal Alu insertion and microsatellite polymorphisms were analysed. The Alu insertion polymorphisms studied included ACE, TPA25, PV92, APO, DI, A25, HS2.43, HS3.23 and HS4.65. The microsatellite polymorphisms analysed in the present study included 113 autosomual ti-and tetra-nucleotide repeats. Both types of analyses grouped the Burusho and Pathans closer to the Greek population suggesting that gene flow may haveoccurred among these populations. When other world populations were included in the study, all four populations were grouped with the European populations supporting the historical evidence and suggesting that the Pakistanis and the Europeans have a common gene pool Finally to investigate the lineages of Pakistani males from nine different ethnic groups, two Y chromosome markers; DYS287 (YAP) present on the long arm of the Y chromosome and DYS19, a tetranucleotide repeat present on the short arm of the Y chromosome were studied. These markers divided the populations into two groups, the Southern (Baloch, Brahui, Makrani, Sindhi) and Northern (Pathan, Panjabi, Hazara, Burusho, Kalash) groups. This study suggests that multiple migrations have occurred in this part of the world from West Asia, Eastern Mediterranean, the Levant and sub-Saharan Africa. A very little gene flow has occurred across the formidable Karakoram Mountains on the border with China

Item Type:Thesis (PhD)
Uncontrolled Keywords:ethnic groups, genetic diversity, pakistani populations, burusho, sindhi, brahui, kalash, pathan, lineages, panjabi, hazara, ancestry, y-chromosome
Subjects:Biological & Medical Sciences (c) > Biological Sciences(c1) > Biotechnology(c1.5)
ID Code:1337
Deposited By:Mr. Muhammad Asif
Deposited On:27 Jan 2007
Last Modified:04 Oct 2007 21:06

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