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Title of Thesis

Atika Mansoor
Institute/University/Department Details
University of Karachi/ Department of Biotechnology
Number of Pages
Keywords (Extracted from title, table of contents and abstract of thesis)
ethnic groups, genetic diversity, pakistani populations, burusho, sindhi, brahui, kalash, pathan, lineages, panjabi, hazara, ancestry, y-chromosome

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

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1905.92 KB
S. No. Chapter Title of the Chapters Page Size (KB)
1 0 Contents 0
70.86 KB
2 1 General Introduction 1
178.5 KB
3 2 Genetic Relationship Between Pakistani And World Populations Based Upon Microsatellite Analysis 19
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  2.1 Introduction 19
  2.2 Materials And Methods 25
  2.3 Results 29
  2.4 Discussion 36
  2.5 Figures And Tables 40
  2.6 References 57
4 3 A Study Of The Greek Ancestry Of Northern Pakistani Populations 61
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  3.1 Introduction 61
  3.2 Materials And Methods 64
  3.3 Results 66
  3.4 Discussion 72
  3.5 Figures And Tables 76
  3.6 References 93
5 4 Y-Chromosome Polymorphisms In Various Ethic Groups Of Pakistan 96
235.75 KB
  4.1 Introduction 96
  4.2 Materials And Methods 101
  4.3 Results 104
  4.4 Discussion 107
  4.5 Figures And Tables 113
  4.6 References 120
6 5 Conclusion 123
990.38 KB