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Like pashtun like haplogroup.

Jabbar Khan1,2, Zia Ur Rehman1, Zafar Uddin3

  • 1Institute of Biological Sciences, Gomal University, Dera Ismail Khan, Pakistan.

Nucleosides, Nucleotides & Nucleic Acids
|March 25, 2025
PubMed
Summary

Mitochondrial DNA analysis of Pashtun individuals revealed distinct haplogroups and unique mutations in longevity versus non-longevity groups. This research enhances forensic mtDNA comparisons within this ethnic population.

Keywords:
Pashtunhaplogrouphypervariable regionmitochondrial DNA

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Area of Science:

  • Forensic Genetics
  • Population Genetics
  • Mitochondrial DNA Analysis

Background:

  • Mitochondrial DNA (mtDNA) hypervariable regions (HVS-I and HVS-II) are crucial for forensic identification.
  • Understanding genetic diversity within specific ethnic groups like the Pashtun is vital for accurate forensic applications.
  • Longevity studies can reveal genetic factors influencing lifespan and population-specific genetic architecture.

Purpose of the Study:

  • To characterize the mitochondrial DNA (mtDNA) hypervariable regions (HVS-I and HVS-II) in longevity (≥90 years) and non-longevity (≤65 years) Pashtun individuals.
  • To explore the genetic architecture of mtDNA in Pashtun longevity individuals for forensic purposes.
  • To identify unique mutations and haplogroup distributions that may differentiate longevity and non-longevity groups within the Pashtun population.

Main Methods:

  • Collection of blood samples from 124 longevity and 46 non-longevity individuals of Pashtun ethnicity from Khyber Pakhtunkhwa, Pakistan.
  • Sequencing analysis of the hypervariable regions (HVS-I and HVS-II) of the mitochondrial genome.
  • Comparative analysis of haplogroup frequencies and identification of unique point mutations between the two groups.

Main Results:

  • Longevity individuals exhibited 16 major and 56 sub-haplogroups, while non-longevity individuals showed 12 major and 29 sub-haplogroups.
  • The most common haplogroups in longevity individuals were M (25.0%), J (14.51%), and D/U (10.48% each).
  • In non-longevity individuals, the most common haplogroups were M (17.39%), H/T (15.21% each), and D (13.04%).
  • Nineteen unique point mutations were identified, with distinct patterns observed between longevity and non-longevity groups.
  • Specific mutations found in one group were absent in the other, suggesting potential genetic markers related to longevity or group differentiation.

Conclusions:

  • The study identified significant differences in mtDNA haplogroup distribution and unique mutations between longevity and non-longevity Pashtun individuals.
  • The findings contribute valuable data for forensic mtDNA comparisons within the Pashtun population of Pakistan.
  • Social, cultural, and territorial factors likely contribute to the heterogeneous genetic makeup of the Pashtun ethnic group, influencing mtDNA profiles.