Ancient DNA and MTHFR mutation: insights into human evolution and health

Purpose: Scientists have discovered more information on ancient genes, migration patterns, and human population evolution by studying DNA extracted from old samples. This research aimed to synthesize current understanding of the relationship between MTHFR mutation and ancient DNA, exploring possible implications for our understanding of the evolutionary and genetic underpinnings of disorders.Materials and methods: Genomic DNA isolation from petrous bone and teeth samples was performed using the Ancient DNA extraction from bones and teeth kit. In the obtained genomic DNAs, the gene-specific region was amplified by PCR, and the polymorphic locus located in this region was observed on high-resolution agarose gel. The MTHFR mutation was examined by genotyping based on DNA sequence analysis.Results: MTHFR A1298C mutation was detected in three samples and MTHFR C1298C mutation was detected in one sample.Conclusion: Looking at MTHFR changes in ancient DNA helps scientists understand how these gene differences affected human survival.

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Publication Details

Journal
Pamukkale Medical Journal
Published
2026-04-13
DOI
https://doi.org/10.31362/patd.1659805
Primary Topic
Forensic and Genetic Research
Type
article
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article

Ancient DNA and MTHFR mutation: insights into human evolution and health

Bilal Söğüt, Aylin Köseler
Pamukkale Medical Journal
Forensic and Genetic Research
article

Ancient DNA and MTHFR mutation: insights into human evolution and health

Bilal Söğüt, Aylin Köseler
article en

Abstract

Purpose: Scientists have discovered more information on ancient genes, migration patterns, and human population evolution by studying DNA extracted from old samples. This research aimed to synthesize current understanding of the relationship between MTHFR mutation and ancient DNA, exploring possible implications for our understanding of the evolutionary and genetic underpinnings of disorders.Materials and methods: Genomic DNA isolation from petrous bone and teeth samples was performed using the Ancient DNA extraction from bones and teeth kit. In the obtained genomic DNAs, the gene-specific region was amplified by PCR, and the polymorphic locus located in this region was observed on high-resolution agarose gel. The MTHFR mutation was examined by genotyping based on DNA sequence analysis.Results: MTHFR A1298C mutation was detected in three samples and MTHFR C1298C mutation was detected in one sample.Conclusion: Looking at MTHFR changes in ancient DNA helps scientists understand how these gene differences affected human survival.

Pamukkale Medical JournalVol. 19(2)
Pamukkale University (TR)
Openalex Percentile: Top 16%
Forensic and Genetic Research
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Ancient DNA and MTHFR mutation: insights into human evolution and health — Bilal Söğüt, Aylin Köseler · Pamukkale Medical Journal (2026) | TGRS Research Map | TGRS