Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan

• Published in: European journal of human genetics : EJHG Vol. 15; no. 1; pp. 121 - 126
• Main Authors: FIRASAT, Sadaf, KHALIQ, Shagufta, MOHYUDDIN, Aisha, PAPAIOANNOU, Myrto, TYLER-SMITH, Chris, UNDERHILL, Peter A, AYUB, Qasim
• Format: Journal Article
• Language: English
• Published: Avenel, NJ Nature Publishing 01.01.2007; Nature Publishing Group
• Subjects: Alexander the Great (356-323 BC); Biological and medical sciences; Cell Line; Chromosomes; Chromosomes, Human, Y; Ethnic Groups - genetics; Fundamental and applied biological sciences. Psychology; Gene mapping; General aspects. Genetic counseling; Genetic distance; Genetic engineering; Genetics of eukaryotes. Biological and molecular evolution; Genetics, Population; Greece - ethnology; Haplotypes; Human; Humans; Laboratories; Male; Medical genetics; Medical sciences; Microsatellite Repeats; Molecular and cellular biology; Mutation; Pakistan; Phylogenetics; Population genetics; Population genetics, reproduction patterns; Soldiers; Y chromosomes; Asia; Pakistan; Greece; Islamabad Pakistan; United States > US; Pakistan; Y chromosome polymorphism; Population; Y-Chromosome; Greek; Population genetics; Polymorphism
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/sj.ejhg.5201726

Three Pakistani populations residing in northern Pakistan, the Burusho, Kalash and Pathan claim descent from Greek soldiers associated with Alexander's invasion of southwest Asia. Earlier studies have excluded a substantial Greek genetic input into these populations, but left open the question of a smaller contribution. We have now typed 90 binary polymorphisms and 16 multiallelic, short-tandem-repeat (STR) loci mapping to the male-specific portion of the human Y chromosome in 952 males, including 77 Greeks in order to re-investigate this question. In pairwise comparisons between the Greeks and the three Pakistani populations using genetic distance measures sensitive to recent events, the lowest distances were observed between the Greeks and the Pathans. Clade E3b1 lineages, which were frequent in the Greeks but not in Pakistan, were nevertheless observed in two Pathan individuals, one of whom shared a 16 Y-STR haplotype with the Greeks. The worldwide distribution of a shortened (9 Y-STR) version of this haplotype, determined from database information, was concentrated in Macedonia and Greece, suggesting an origin there. Although based on only a few unrelated descendants, this provides strong evidence for a European origin for a small proportion of the Pathan Y chromosomes.