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Journals / Türk Biyokimya Dergisi / 2018 / Cilt: 43 - Sayı: 2

Estimation of the Y-chromosomal short tandem repeat (Y-STR) mutation rates in Turkey

Türkiye’de Y-Kromozomal STR (Short Tandem Repeat) Mutasyon Oranının Belirlenmesi

Ozlem BULBUL
Gonul FİLOGLU
Elif MERTOĞLU
Tolga ZORLU
Pages
142–150
Publication Date
2022-11-04
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The averagemutation rate was determined as 1.96 × 10−3 for Turkishpopulation.Conclusion: This investigation will contribute to minimizethe possibility of false exclusion of the father-son and kinshiprelations.

📌 3 Key Takeaways

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Objective & Hypothesis:Background: The Non-recombining region of the Y-chromosome(NRY) is transferred from father to son in anunchanged form without recombination in meiosis.
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Key Findings & Data:In determination ofpaternity, if mismatches are observed between father andchild, population-specific mutation rates should be usedto determine whether it is a mutation or a true exclusion.Therefore in this study, we aim to determine the mutationrates of 17 Y-STR loci in Turkey.Material and methods: 17 Y-STR loci were typed by usingAmpFlSTR® Yfiler™ Kit in 90 volunteer father-son pairs.Mutation rates were calculated and compared with otherpopulations.Results: The mutations were found between three fathersonpairs at DYS439 and DYS458 loci.
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Conclusion & Impact:The averagemutation rate was determined as 1.96 × 10−3 for Turkishpopulation.Conclusion: This investigation will contribute to minimizethe possibility of false exclusion of the father-son and kinshiprelations.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Background: The Non-recombining region of the Y-chromosome(NRY) is transferred from father to son in anunchanged form without recombination in meiosis. SinceShort tandem repeats on Y-chromosome (Y-STRs) in thisregion do not have any recombination, these regions areidentical in all male individuals who are related to thefather except for mutations. Therefore, these regionsgain importance in identification for the forensic sciencesor determination of paternity. In determination ofpaternity, if mismatches are observed between father andchild, population-specific mutation rates should be usedto determine whether it is a mutation or a true exclusion.Therefore in this study, we aim to determine the mutationrates of 17 Y-STR loci in Turkey.Material and methods: 17 Y-STR loci were typed by usingAmpFlSTR® Yfiler™ Kit in 90 volunteer father-son pairs.Mutation rates were calculated and compared with otherpopulations.Results: The mutations were found between three fathersonpairs at DYS439 and DYS458 loci. In addition, a duplicationin DYS389 II loci* 30, 31 was observed. The averagemutation rate was determined as 1.96 × 10−3 for Turkishpopulation.Conclusion: This investigation will contribute to minimizethe possibility of false exclusion of the father-son and kinshiprelations.

Özet

Amaç: Y kromozomunun rekombinasyona uğramayan bölgesi, non-recombining region Y (NRY) mayozda rekombinasyona uğramadığından babadan oğula değişmeden aktarılır. Bu bölgede bulunan Y kromozomuna bağlı kısa ardışık tekrar dizileri (Y-STR) rekombinasyona uğramadığından baba tarafından akraba tüm erkek bireyler arasında mutasyonlar haricinde birbirinin aynıdır. Bu yüzden bu bölgeler, adli bilimlerde kimliklendirmede veya babalık tayininde önem kazanmaktadır. Babalık tayininde, baba ve çocuk arasında uyumsuzluk gözlenmesi durumunda, bunun mutasyondan mı yoksa gerçek bir dışlama mı olduğunu belirleyebilmek için toplumlara özgü mutasyon oranları belirlenmelidir. Bu çalışmanın amacı Türkiye’de 17 Y-STR lokusuna ait mutasyon oranlarının belirlenmesidir. Gereç ve Yöntem: Bu çalışmada, 90 gönüllü baba-oğul çiftinde 17 Y-STR lokusu AmpFlSTR® Yfiler™ kit kullanılarak tiplendirildi. Mutasyon oranları hesaplandı ve diğer popülasyonlarla karşılaştırıldı. Bulgular: Üç baba-oğul çifti arasında DYS439 ve DYS458 lokuslarında uyumsuzluk (mutasyon) gözlenirken; DYS389 II lokusunda bir duplikasyon (30,31) gözlendi. Türkiye popülasyonu için ortalama mutasyon oranı 1.96 × 10−3 olarak belirlendi.Sonuç: Bu çalışma ile baba-oğul ve akrabalık ilişkilerinin araştırılmasında karşılaşılabilecek yanlış dışlama olasılığı ortadan kalkmış olacaktır.

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Cite This Article

BULBUL, O., FİLOGLU, G., MERTOĞLU, E., ZORLU, T. (2022). Estimation of the Y-chromosomal short tandem repeat (Y-STR) mutation rates in Turkey. Türk Biyokimya Dergisi, Cilt: 43 - Sayı: 2, 142–150. https://ajindex.com/articles/620928

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