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

Year 2026, Volume: 19 Issue: 2 , 231 - 236 , 13.04.2026

Aylin Koseler , Bilal Söğüt

https://doi.org/10.31362/patd.1659805

https://izlik.org/JA63JZ99BW

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.

Keywords

Archaeogenetics , MTHFR , ancient DNA , polymorphism , stratonikeia

Antik DNA ve MTHFR mutasyonu: insan sağlığına ilişkin bulgular

https://izlik.org/JA63JZ99BW

Abstract

Amaç: Bilim insanları eski örneklerden çıkarılan DNA'yı inceleyerek eski genler, göç kalıpları ve insan popülasyonunun evrimi hakkında daha fazla bilgi keşfettiler. Bu araştırma, MTHFR mutasyonu ile eski DNA arasındaki ilişkiye dair mevcut anlayışı sentezlemeyi ve bozuklukların evrimsel ve genetik temellerine dair anlayışımız için olası çıkarımları keşfetmeyi amaçladı.
Gereç ve yöntem: Petroz kemik ve diş örneklerinden genomik DNA izolasyonu, kemik ve dişlerden Antik DNA çıkarma kiti kullanılarak gerçekleştirildi. Elde edilen genomik DNA'larda, gen-spesifik bölge PCR ile çoğaltıldı ve bu bölgede bulunan polimorfik lokus yüksek çözünürlüklü agar jelinde gözlemlendi. MTHFR mutasyonu, DNA dizi analizine dayalı genotipleme ile incelendi.
Bulgular: Üç örnekte MTHFR A1298C mutasyonu ve bir örnekte MTHFR C1298C mutasyonu tespit edildi.
Sonuç: Eski DNA'daki MTHFR değişikliklerine bakmak, bilim insanlarının bu gen farklılıklarının insanların hayatta kalmasını nasıl etkilediğini anlamalarına yardımcı olur.

Keywords

Arkeogenetik , MTHFR , antik DNA , polimorfizm , stratonikeia

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