A Pilot Study for the Determination of Angiotensin I-Converting Enzyme (ACE I/D) and Alpha-Actinin-3 (ACTN3 R577X) Polymorphisms in Young Basketball Players

Öz

The aim of this study was to determine the allelic distribution of alpha- actinin-3 (ACTN3) R577X and angiotensin converting enzyme (ACE) I/D polymorphisms in a total of 24 elite young basketball players, 17 female and 7 male. DNA samples from the players were isolated from buccal cells by using commercial DNA isolation kit. Genotyping process for ACTN3 was carried out by polymerase chain reaction- restriction fragment length polymorphism (PCR- RFLP), and PCR for ACE. 16 of the examined players had RR, 6 had RX and 2 of the players had XX genotype for the ACTN3 R577X polymorphism. When we examine them according to genders, 11 of the 17 female players had RR, 4 had RX and 2 had XX genotypes. For males, 5 and 2 players had RR and RX genotypes, respectively. For ACE, 11 players were DD, 12 were ID and only one of them was II. 7 had DD and 10 had ID genotypes for the females; 4 had DD, 2 had ID and only one had II genotype. R allele of the ACTN3 was counted as 26 in females and 12 in males, whereas X allele was 8 in females and 2 in males. For ACE, D allele was counted as 24 in females and 10 in males, whereas I allele counted as 10 in females and 4 in males. Our results showed that ACTN3 RR genotype and R allele,ACE ID geotype and D allele dominated in our cohort. We hope that this first pilot study carried out in basketball players will guide further studies with extended numbers of players.

Anahtar Kelimeler

• Basketball; polymorphism; ACTN3; ACE; sport

Genç Basketbolcularda Anjiotensin Dönüştürücü Enzim (ACE I/D) ve Alfa- Aktinin-3 (ACTN3 R577X) Gen Polimorfizmlerinin Belirlenmesi İçin Pilot Bir Çalışma

Öz

Çalışmamızda 17’si kız, 7’ si erkek 24 genç basketbol oyuncusunda alfa- aktinin-3 (ACTN3) R577X ve anjiyotensin dönüştürücü enzim (ACE) I/D polimorfizmlerinin dağılımlarının belirlemeyi amaçladık. Çalışmamıza gönüllü katılan oyunculardan DNA eldesi, ağız içi epitel hücrelerinden ticari kit kullanılarak gerçekleştirilmiştir. ACNT3 genotiplemesi için polimeraz zincir reaksiyonu- restriksiyon enzimi kesimi (PCR- RFLP) metodu, ACE içinse PCR metodu kullanılmıştır. ACTN3 genotipi için 16 oyuncu RR, 6’ sı RX ve 2 oyuncu da XX olarak bulunmuştur. Cinsiyetlerine göre ayırdığımızda 17 kız oyuncunun 11’i RR, 4’ü RX ve 2’si XX, erkeklerde disise 5 ve 2 oyuncu sırasıyla RR ve RX genotiplerinde bulunmuştur. ACE için, 11 oyuncu DD, 12 oyuncu ID ve sadece 1 oyuncu II genotipindedir. Cinsiyetlerine göre incelediğimizde kızlarda 7 oyuncu DD, 10 oyuncu ID genotipinde, erkelerde ise 4 oyuncu DD, 2 oyuncu ID ve yalnız 1 oyuncu II genotipindedir. ACTN3 R alleli kızlarda 26, erkeklerde 12, X alleli ise kızlarda 8, erkeklerde 2 olarak bulunmuştur. ACE genotipi için D alleli kızlarda 24, erkeklerde 10, I alleli ise kızlarda 10 ve erkeklerde 4 olarak saptanmıştır. Bu çalışmamızda ACTN3 DD genotipinin ve R alleinin, ACE polimorfizminde ise ID genotipinin ve D alleinin çalışma grubunda daha baskın olduğu görülmüştür. Bu oyuncu grubunda ilk kez gerçekleştirilen bu pilot çalışma ile bundan sonra daha yüksek veri kaynaklı çalışmalara ışık tutacağı inancındayız.

Anahtar Kelimeler

• Basketbol; polimorfizm; ACTN3; ACE; Spor

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