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Turkish Journal of Biochemistry

Türk Biyokimya Dergisi


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1303-829X
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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

Elif Mertoglu
  • Department of Molecular Biology and Genetics, Faculty of Science, Istanbul University, Istanbul, Turkey
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Gonul FilogluORCID iD: http://orcid.org/0000-0002-8807-317X / Tolga Zorlu / Ozlem BulbulORCID iD: http://orcid.org/0000-0003-2920-7614
Published Online: 2018-02-06 | DOI: https://doi.org/10.1515/tjb-2017-0240

Abstract

Background:

The Non-recombining region of the Y-chromosome (NRY) is transferred from father to son in an unchanged form without recombination in meiosis. Since Short tandem repeats on Y-chromosome (Y-STRs) in this region do not have any recombination, these regions are identical in all male individuals who are related to the father except for mutations. Therefore, these regions gain importance in identification for the forensic sciences or determination of paternity. In determination of paternity, if mismatches are observed between father and child, population-specific mutation rates should be used to determine whether it is a mutation or a true exclusion. Therefore in this study, we aim to determine the mutation rates of 17 Y-STR loci in Turkey.

Material and methods:

17 Y-STR loci were typed by using AmpFlSTR® Yfiler™ Kit in 90 volunteer father-son pairs. Mutation rates were calculated and compared with other populations.

Results:

The mutations were found between three father-son pairs at DYS439 and DYS458 loci. In addition, a duplication in DYS389 II loci* 30, 31 was observed. The average mutation rate was determined as 1.96×10−3 for Turkish population.

Conclusion:

This investigation will contribute to minimize the possibility of false exclusion of the father-son and kinship relations.

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.

Keywords: DNA analysis; Mutation; Y chromosome; Y-STR; Forensic genetics

Anahtar Kelimeler: DNA analizi; Mutasyon; Y kromozomu; Y-STR; Adli genetik

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About the article

Corresponding author: Gonul Filoglu, PhD, Institute of Forensic Science, Istanbul University, Istanbul, Turkey, Phone: +90 212 4143000/22803


Received: 2017-09-07

Accepted: 2017-11-06

Published Online: 2018-02-06


Conflict of Interest: The authors have no conflict of interest.


Citation Information: Turkish Journal of Biochemistry, Volume 43, Issue 2, Pages 142–150, ISSN (Online) 1303-829X, DOI: https://doi.org/10.1515/tjb-2017-0240.

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