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[Sequence polymorphism of mitochondrial DNA and its forensic application]

T Yoshii1, E Takeda, K Akiyama

  • 1Department of Legal Medicine, Teikyo University School of Medicine, Tokyo, Japan.

Nihon Hoigaku Zasshi = the Japanese Journal of Legal Medicine
|August 1, 1995
PubMed
Summary

Mitochondrial DNA (mtDNA) sequencing in 100 Japanese individuals revealed 66 mtDNA types. A common T-to-C replacement at position 16,189 creates a "C-continuous stretch," impacting sequence readability and requiring new forensic guidelines.

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Area of Science:

  • Genetics
  • Forensic Science

Background:

  • Mitochondrial DNA (mtDNA) exhibits polymorphism, crucial for population genetics and forensic applications.
  • Direct sequencing of mtDNA noncoding regions can be challenging due to sequence variations.

Purpose of the Study:

  • To investigate mitochondrial DNA polymorphism in the Japanese population.
  • To analyze sequence variations, particularly a T-to-C replacement at position 16,189, and its impact on sequencing.
  • To propose updated guidelines for mtDNA sequencing in forensic contexts.

Main Methods:

  • PCR amplification of a 452-bp segment of the mtDNA noncoding region (nt 16,111-16,398).
  • Direct Taq cycle sequencing using FITC-labelled primers.
  • Cloning analysis to characterize the 'C-continuous stretch' variation.

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Main Results:

  • A survey of 100 Japanese individuals identified 66 distinct mtDNA types.
  • Ten mtDNA types were shared among individuals, with two being particularly frequent.
  • Nineteen types (from 25 individuals) showed a T-to-C replacement at position 16,189, forming a 'C-continuous stretch' that hindered sequence readability.
  • Cloning revealed heterogeneous lengths of the 'C-continuous stretch'.

Conclusions:

  • The T-to-C replacement at position 16,189 should be recognized as a valid variation factor in mtDNA analysis.
  • A standardized length of 10 Cs for the 'C-continuous stretch' is proposed for consistent forensic application.
  • These findings necessitate revised protocols for accurate mtDNA sequencing and interpretation in forensic investigations.