Y Chromosome: A broad perspective on forensic genetic and anthropological studies

Year 2025, Volume: 20 Issue: 71, 83 - 105, 31.07.2025

Candar Yıldız

Abstract

The Y chromosome is among the smallest chromosomes in the human genome and plays a pivotal role in sex determination and paternal lineage tracing. The SRY (sex-determining region Y) gene initiates testis development, thereby governing the establishment of the male phenotype. A substantial portion of the Y chromosome consists of the non-recombining region of Y (NRY), which, due to its lack of recombination, is transmitted unaltered from father to son. This unique characteristic renders it invaluable in forensic investigations, paternity testing, and genealogical studies.

Genetic markers located on the Y chromosome—including short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), and insertion-deletion polymorphisms (indels)—are widely employed in forensic sciences for applications such as human identification, perpetrator profiling in sexual assault cases, and reconstructing historical migration patterns. Notably, SNPs are increasingly favored in forensic genetics due to their low mutation rates and robustness in analyzing degraded DNA samples. Furthermore, in anthropological research, Y-chromosomal haplogroups provide critical insights into human migration routes and the genetic relationships among populations, contributing to a deeper understanding of human evolutionary history.

Keywords

Y Chromosome, Forensic Genetics, Anthropology

Y Kromozomu: Adli Genetik ve Antropolojik Çalışmalara Geniş Bir Bakış

Abstract

Y kromozomu, insan genomunun en küçük kromozomlarından biri olup cinsiyet belirleme ve erkek soyunun izlenmesinde kritik bir role sahiptir. SRY geni, testis gelişimini tetikleyerek erkek fenotipinin oluşumundan sorumludur. Y kromozomunun büyük bir kısmını oluşturan NRY (non-recombining region of Y) bölgesi, rekombinasyona uğramadığı için babadan oğula değişmeden aktarılır ve bu özelliğiyle adli vakalarda, babalık testlerinde ve soy araştırmalarında kullanılır.

Y kromozomu üzerindeki genetik işaretçiler (STR'ler, SNP'ler, indel'ler) adli bilimlerde kimlik tespiti, cinsel saldırı vakalarında failin belirlenmesi ve tarihsel göçlerin izlenmesi gibi çeşitli alanlarda kullanılmaktadır. Özellikle SNP'ler, düşük mutasyon oranları ve degrede DNA örneklerinde bile analiz edilebilme avantajları nedeniyle adli genetikte giderek daha fazla tercih edilmektedir. Antropolojik çalışmalarda ise Y kromozomu haplogrupları, insanlığın göç yolları ve popülasyonlar arasındaki genetik ilişkilerin anlaşılmasına katkı sağlamaktadır.

Keywords

Y Kromozomu, Adli Genetik, Antropoloji

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