HADO Sporcularında Alfa-Aktin-3 (ACTN3) rs1815739 Polimorfizminin Dağılımı

Öz

Yüksek performanslı sporcuların genetik profillerinin incelenmesine ve bu genetik faktörlerin atletik yeteneklerini nasıl etkilediğine yönelik ilgi artmaktadır. ACTN3, atletik yetenekleri belirlemede oldukça etkili bir gendir. ACTN3 rs1815739 varyantı 11. kromozomda (11q13.1) bulunur ve ekson 16'da sitozinden timine geçiş nedeniyle oluşur. Bu çalışma, HADO sporcularındaki ACTN3 rs1815739 genetik varyantını incelemeyi amaçlamaktadır. Bu çalışmaya sekiz HADO sporcusu katıldı. Bukkal epitel hücrelerinden DNA izole edildikten sonra, Real-Time PCR (PCR) kullanılarak genotipleme yapıldı. Sporcular arasındaki genotip dağılımı 4 (%50) CC, 2 (%25) CT ve 2 (%25) TT idi. Kontrol grubunda genotipler 15 (%50) CC, 8 (%26,7) CT ve 7 (%23,3) TT idi. Gruplar arasında anlamlı bir fark yoktu (p=1,000). Sporculardaki alel dağılımı 10 (%62,5) C ve 6 (%37,5) T iken, kontrol grubunda 38 (%63,3) C ve 22 (%36,7) T aleli vardı. İstatistiksel karşılaştırma anlamlı bir fark göstermedi (p=0,951). Sonuçlar CC genotipinin CT ve TT genotiplerine kıyasla daha yüksek olduğunu gösterdi. Aynı zamanda C aleli de T alelinden yüzde daha yüksek bulundu. Araştırmalar C alelinin sprint/güç sporları ile ilişkili olduğunu göstermiştir. Çalışmamız, HADO sporcularında atletik performans üzerine yapılan ilk çalışmadır.

Anahtar Kelimeler

• ACTN3
• HADO
• polimorfizm
• spor genetiği

Distribution of Alpha-Actinin-3 (ACTN3) rs1815739 Polymorphism in HADO Athletes

Öz

There is growing interest in studying the genetic profile of high-performing athletes and how these genetic factors impact their athletic abilities. ACTN3 is a highly influential gene in determining athletic capabilities. The ACTN3 rs1815739 variant is found on chromosome 11 (11q13.1) and is caused by a switch from cytosine to thymine in exon 16. This study aims to examine the ACTN3 rs1815739 genetic variant in HADO athletes. Eight HADO athletes participated in this study. After isolating DNA from buccal epithelial cells, genotyping was performed using Real-Time PCR (PCR). Genotype distribution among athletes was 4 (50%) CC, 2 (25%) CT, and 2 (25%) TT. In the control group, genotypes were 15 (50%) CC, 8 (26.7%) CT, and 7 (23.3%) TT. There was no significant difference between groups (p=1.000). Allele distribution in athletes was 10 (62.5%) C and 6 (37.5%) T, while the control group had 38 (63.3%) C and 22 (36.7%) T alleles. The statistical comparison showed no significant difference (p=0.951). The results showed that the CC genotype was higher compared to the CT and TT genotypes. At the same time, the C allele was also found. percent higher than the T allele. Research has shown that the C allele is associated with sprinting/strength sports. This is the first study of athletic performance in HADO athletes.

Anahtar Kelimeler

• ACTN3
• HADO
• polymorphism
• sport genetics

Kaynakça

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