Turkiye Klinikleri Journal of Forensic Medicine and Forensic Sciences

.: ORIGINAL RESEARCH
X Kromozomunda Bulunan 15 SNP Lokusunun Türkiye Populasyonundaki Polimorfizmi
Polymorphism of 15 X-Chromosome SNPs in the Turkish Population
İlksen TAVACIa, Özlem BÜLBÜLa, Gönül FİLOĞLUa, Havva ALTUNÇULa
aİstanbul Üniversitesi-Cerrahpaşa Adli Tıp ve Adli Bilimler Enstitüsü, Fen Bilimleri ABD, İstanbul, TÜRKİYE
Turkiye Klinikleri J Foren Sci Leg Med. 2020;17(3):238-44
doi: 10.5336/forensic.2020-75487
Article Language: TR
Full Text
ÖZET
 Amaç: Adli bilimlerde genetik kimliklendirmede sıklıkla otozomal belirteçler kullanılsa da bazı olgularda, gonozomal belirteçlere ihtiyaç duyulmaktadır. X kromozomu üzerinde bulunan tek nükleotid polimorfizmi [single nucleotide polymorhism (SNP)] belirteçleri, baba olduğu düşünülen kişinin bulunmadığı olguların çözümünde, uzak akrabalık ilişkilerinin belirlenmesinde, savaşlar ve göçler nedeni ile ayrı düşen ailelerin birleşmesi gibi olgularda kullanılmaktadır. Bu çalışmanın amacı, X kromozomu üzerinde bulunan 15 SNP lokusundan oluşan bir multipleks oluşturmak ve bu X-SNP lokuslarının Türkiye popülasyonundaki polimorfizmini belirlemektir. Gereç ve Yöntemler: Bu araştırmada, sağlıklı ve aralarında akrabalık ilişkisi bulunmayan 150 (75 kadın, 75 erkek) gönüllü bireyden alınan kan örnekleri kullanıldı. On beş X-SNP lokusu, mini sekanlama yöntemine dayalı SNaPshot' Multiplex Kit (Thermo Fisher Scientific) tekniği kullanılarak tetkik edildi. Örnekler, ABI 3130 genetik analizör cihazında yürütüldü ve analiz edildi. Popülasyonlar arası karşılaştırma için NCBI (www.ncbi.nlm.nih.gov/) veri bankasındaki Asya, Avrupa ve Afrika popülasyonlarına ait veriler kullanıldı. Allel frekansları, popülasyonlar arasındaki farklılaşma değerleri (Fst), ayrım gücü, Arlequin v.3.5.1.2, MEGA 5.1, SNP Analyzer v2.0, PowerStats V12 yazılım programları kullanılarak hesaplandı. Bulgular: 15 X-SNP lokusu, tek bir multipleks reaksiyonda optimize edildi. Türkiye popülasyonu çalışması sonucunda, 4 lokus dışında (X122, X165, X109 ve X143) HardyWeinberg dengesinden sapma görülmedi. On beş X-SNP lokusuna ait elde edilen gen sıklıkları diğer popülasyonların sonuçları ile karşılaştırıldığında, Türkiye popülasyonun Avrupa (Fst=0,0307) popülasyonuna daha yakın olduğu; Asya (Fst=0,06978) ve Afrika (Fst=0,10547) popülasyonlarına ise daha uzak olduğu belirlendi. Sonuç: Sonuç olarak Türkiye popülasyonu için 15 X-SNP lokusunun adli istatistik ve popülasyon verileri belirlenmiş olup, bu multipleks adli bilimlerde özel olgularda tamamlayıcı/ek bilgi verici olarak kullanılabilir.

Anahtar Kelimeler: X kromozomu; SNP; Türkiye popülasyonu
ABSTRACT
 Objective: Autosomal markers are frequently used in genetic identification in forensic sciences, however gonosomal markers are needed in some cases. The SNP (single nucleotide polymorphism) markers on the X chromosome are used in the solution of the cases where the person considered to be a father is not present, in the determination of distant kinship relations, in the merging of families separated by wars and migrations. The aim of this study is to develop a multiplex consisting of the X chromosome 15 SNP loci and to determine these X-SNP loci polymorphisms in the population of Turkish Republic. Material and Methods: In this study, we collected blood samples which taken from 150 (75 women, 75 men) healthy and nonrelative volunteers. 15 X-SNP loci were detected by using SNaPshot' Multiplex Kit (Thermo Fisher Scientific) based on minisequencing method. Samples were run and analyzed on the ABI 3130 genetic analyzer device. For population comparison, we used data from Asian, European and African populations in the NCBI (www.ncbi.nlm.nih.gov/) database. Allele frequencies, differentiation between populations (Fst), and power of discrimination (PD) were calculated using Arlequin v.3.5.1.2, MEGA 5.1, SNP Analyzer v2.0, PowerStats V12 softwares. Results: 15 X-SNP loci were optimized in a single multiplex reaction. No deviation from Hardy-Weinberg equilibrium is observed except four loci (X122, X165, X109 and X143). Gene frequencies obtained from 15 X-SNP loci were compared with the results of other populations. We determined that Turkish population is closer to European populations (Fst=0.0307) and Turkish population is more distant to Asian (Fst=0,06978) and African (Fst=0,10547) populations. Conclusion: As a result, forensic statistics and population data of the Turkish population is deternmined for 15 X-SNP loci and this multiplex can be used as complementary/supplementary tool in special cases in forensic sciences.

Keywords: X-chromosome; SNP; Turkish population
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