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Y-chromosomal DNA variation in Pakistan
Raheel Qamar1, Qasim Ayub, Aisha Mohyuddin
1Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, Islamabad, Pakistan.
American Journal of Human Genetics
|March 19, 2002
Summary
This study analyzed Y-chromosome DNA from 718 Pakistani men across 12 ethnic groups. Findings reveal genetic similarities with neighbors but also distinct population substructures and support specific historical origins, like the Parsis from Iran.
Area of Science:
- Human Genetics
- Population Genetics
- Y-chromosome DNA Analysis
Background:
- The Y chromosome, inherited paternally, offers insights into male lineage and population history.
- Pakistan's diverse ethnic landscape presents a unique opportunity to study human migration and genetic admixture.
- Understanding Y-chromosome variation aids in reconstructing historical population movements and validating oral traditions.
Purpose of the Study:
- To characterize the Y-chromosome genetic diversity across 12 major ethnic groups in Pakistan.
- To identify stable haplogroups and haplotypes within the Pakistani male population.
- To compare genetic patterns with neighboring regions and investigate congruence with historical narratives.
Main Methods:
- Typing of 18 binary polymorphisms and 16 short-tandem-repeat (STR) loci on the nonrecombining Y chromosome.
- Analysis of 718 male subjects representing 12 distinct ethnic groups from Pakistan.
- Construction of median-joining networks to visualize haplotype relationships and population substructure.
Main Results:
- Identification of 11 stable haplogroups and 503 unique binary marker/STR haplotypes.
- Observed haplogroup frequencies largely mirrored those in adjacent geographical areas.
- Significant Y-chromosome substructuring was evident within Pakistan, with distinct haplotype clusters in various populations, suggesting isolation and genetic drift.
Conclusions:
- Pakistani populations, regardless of linguistic background, show genetic resemblance to the broader Indo-European speaking groups.
- Y-chromosome data support specific historical origins, including Parsis (Iran), Hazaras (Genghis Khan's army), and Makrani (Africa).
- Genetic evidence does not corroborate oral traditions suggesting Tibetan, Syrian, Greek, or Jewish origins for certain Pakistani groups.