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HLA polymorphism in six ethnic groups from Pakistan.

A Mohyuddin1, Q Ayub, S Khaliq

  • 1Biomedical and Genetic Engineering Division, Dr A. Q. Khan Research Laboratories, PO Box 2891, Islamabad-44000, Pakistan. sqmehdi@isb.comsats.net.pk

Tissue Antigens
|November 26, 2002
PubMed
Summary

Investigating human leukocyte antigen (HLA) genetic diversity in six Pakistani ethnic groups reveals distinct populations and admixture. The Kalash people are genetically unique, while Pakistani groups cluster with Asian Indian populations, showing Caucasian and Oriental influences.

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Area of Science:

  • Population genetics
  • Human leukocyte antigen (HLA) system
  • Molecular anthropology

Background:

  • The human leukocyte antigen (HLA) system exhibits extreme polymorphism, making it a valuable tool for population genetic studies.
  • Understanding genetic diversity within and between ethnic groups is crucial for anthropological and medical research.

Purpose of the Study:

  • To investigate the genetic polymorphism of six Pakistani ethnic groups at key HLA loci.
  • To analyze allele and haplotype distributions to understand population structure and relationships.
  • To compare Pakistani populations with global groups and infer historical admixture events.

Main Methods:

  • Utilized polymerase chain reaction with sequence-specific primers (PCR-SSP) to analyze HLA-A, -B, -C, -DRB1, and -DQB1 loci.

Related Experiment Videos

  • Calculated allele and three-locus haplotype frequencies for Baloch, Brahui, Sindhi, Burusho, Kalash, and Pathan populations.
  • Employed phylogenetic tree and correspondence analysis for population comparisons.

    • Main Results:

    • Significant variation in HLA allele and haplotype distributions was observed among the six Pakistani ethnic groups.
    • The Kalash population was found to be genetically distinct from other Pakistani groups studied.
    • The Baloch and Brahui showed close genetic relatedness, while Sindhi populations indicated admixture with northern groups.
    • Phylogenetic analyses placed Pakistani ethnic groups within the broader cluster of Asian Indian populations.
    • Observed three-locus haplotypes suggest historical admixture with Caucasian and Oriental populations.

    Conclusions:

    • HLA genetic data reveals unique population structures within Pakistan, with the Kalash being an outlier.
    • Evidence of admixture between northern and southern Pakistani populations was identified.
    • Pakistani ethnic groups share genetic affinities with Asian Indian populations, with historical influences from Caucasian and Oriental groups.