Turkiye Klinikleri Journal of Forensic Medicine and Forensic Sciences

.: ORIGINAL RESEARCH
Assessing Population Structure Using 46 AIM-Indel (Ancestry Informative Marker-Insertion/Deletion) Panel in Türkiye: Experimental Research (Population Study)
46 AIM-InDel (Soy Bilgilendirici Belirteçler-İnsersiyon/Delesyon) Paneli Kullanılarak Türkiye Popülasyon Yapısının Değerlendirilmesi: Deneysel Araştırma (Popülasyon Çalışması)
Cemaleddin ARSLANa, Özlem BÜLBÜLa, Gönül FİLOĞLUa
aDepartment of Science, Institute of Forensic Science and Legal Medicine, İstanbul University-Cerrahpaşa, Istanbul, Türkiye
Turkiye Klinikleri J Foren Sci Leg Med. 2022;19(2):129-37
doi: 10.5336/forensic.2022-89115
Article Language: EN
Full Text
ABSTRACT
Objective: Insertion/deletion (InDels), also known as 'new generation genetic markers' can be an alternative to short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). Identification and inference of biogeographical ancestry analysis can be more accurate when InDels are used with STRs and SNPs. The aim of this study is to determine the allele frequencies of 46 AIM-InDel loci in Turkish population which can be used to infer biogeographical ancestry. We also compare our population results with other populations. Material and Methods: 46 AIM-InDel loci were typed in 148 Turkish volunteers. Allele frequencies, Hardy Weinberg equilibrium and pairwise FST values were calculated using Arlequin ver.3.5. Biogeographic ancestry was analyzed using Structure 2.3.4. Snipper program was used for individual based inference of biogeographical ancestry. Results: The lowest genetic distance was observed between Turkish population and European, Middle Eastern and Central South Asian populations. When the genetic distance are longer, we observed clearer differences between Turkish and African and East Asian populations. Conclusion: The study provides new InDel data on understanding population structure of Türkiye. This could be useful in forensic investigations and as well as molecular anthropology.

Keywords: Ancestry informative markers (AIMs); InDel; Turkish population; biogeographical ancestry (BGA); forensic genetics
ÖZET
Amaç: 'Yeni nesil genetik belirteçler' olarak da bilinen insersiyon/delesyonlar (InDel), kısa tekrar dizilerilerine [short tandem repeats (STRs)] ve tek nükleotid polimorfizmlerine [single nucleotide polymorphisms (SNP)] alternatif bir belirteç olabilir. InDel belirteçleri, STR'ler ve SNP'ler ile birlikte kullanıldığında, daha doğru bir biyocoğrafik soy analizi yapılabilir. Bu çalışmanın amacı, Türkiye popülasyonundaki 46 AIM-InDel lokusunun biyocoğrafik soy tahmini yapmak için kullanılabilecek alel frekanslarını belirlemektir. Bunun yanı sıra Türkiye popülasyonu sonuçlarını diğer popülasyonlarla da karşılaştırılmaktır. Gereç ve Yöntemler: 148 Türkiyeli gönüllüde 46 AIM-InDel lokusu çalışıldı. Alel frekansları, Hardy Weinberg dengesi ve ikili FST değerleri Arlequin ver.3.5 kullanılarak hesaplandı. Biyocoğrafik soy, Structure 2.3.4 kullanılarak analiz edildi. Snipper Programı ile de bireysel bazda biyocoğrasif soy tahmini yapıldı. Bulgular: En düşük genetik uzaklık Türkiye popülasyonu ile Avrupa, Orta Doğu ve Orta Güney Asya popülasyonları arasında gözlendi. Genetik mesafe arttıkça Türkiye ile Afrika ve Doğu Asya popülasyonları arasında daha net genetik farklılıklar gözlemlendi. Sonuç: Çalışma, Türkiye'nin popülasyon yapısını anlama konusunda yeni InDel verileri sunmaktadır. Bu, adli araştırmalarda ve moleküler antropolojide faydalı olabilir.

Anahtar Kelimeler: Soy bilgilendirici markırlar (AIMs); InDel; Türkiye popülasyonu; biyocoğrafik soy (BGA); adli genetik
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