Program Nr: 1268 from the 2001 ASHG Annual Meeting

A Study of the Greek Ancestry of Northern Pakistani Ethnic Groups using 115 Microsatellite Markers. A. Mansoor1, Q. Ayub1, R. Qamar1, K. Mazhar1, S. Khaliq1, S. Siddiqi1, S. Rahman1, M. Papaioannou2, S.Q. Mehdi1. 1) Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, Islamabad, Pakistan; 2) Unit of Prenatal Diagnosis, Center for Thalassemia, Laiko General Hospital, Athens, Greece.
   Pakistan lies in a region that has witnessed multiple invasions and migrations over the centuries and is therefore composed of diverse ethnic groups. Three northern Pakistani populations, the Pathans, the Burusho and the Kalash claim descent from Greek soldiers who were left in this region after Alexander's invasion of the Indian sub-continent in 327-323 B.C. The Burusho reside in Hunza and Nagar Valleys, which are located in the Karakorum mountains and speak the language isolate Burushaski. The Pathan tribes inhabit the North West Frontier Province of Pakistan and parts of neighboring Afghanistan and speak Pushto, an Indo-European language. The Kalash have been isolated for centuries in the Hindu Kush mountain ranges of northern Pakistan and speak Kalasha, which is also an Indo-European language. To investigate the genetic relationship between extant Greek population and the three Pakistani ethnic groups, forty unrelated samples from each population were analyzed using 115 autosomal microsatellite markers. Tri (17) and tetranucleotide (98) were typed by multiplex PCR and analyzed on ABI 377 sequencer using Genescan software (2.1). VisTA and DISPAN programmes were used for principal component analysis and for calculating the genetic distances between these populations. The heterozygosity values for all loci varied between 0.71 (Kalash) to 0.74 (Greeks). The Kalash population was the least heterozygous and had the lowest number of unique alleles. The principal component analysis of allele frequency data grouped the Pathans and the Burushos with the Greeks. A phylogenetic tree generated using DAS values also separated the Kalash from the other three populations with the bootstrap value of 100% from 10,000 replications. The clustering of the Burusho and Pathans with the Greeks suggests that the gene flow has occurred between these populations.