ACTN3 R577X POLYMORPHISM IN GORANI POPULATION

In humans, there are two types of gene that are expressed in skeletal muscle: α-actinin-2 (ACTN2) and α-actinin-3 (ACTN3). One of the important genes involved in sport genetics is ACTN3 gene encodes α-actinin-3, an actin binding protein which is one of the predominant components of the Z-line in the Type II (fast-twitch) fibers. The α-actinin-3 (ACTN3) gene is composed of 21 exons that is located on the long arm of chromosome 11q on band 13.2. Genetic analysis of ACTN3 gene has showed R577X polymorphism which results in conversion of the arginine at the position 577 to premature stop codon. The purpose of study is to determine genotypes of ACTN3 gene in Gorani population and comparison of these results to results of other published populations. A total of 100 individuals (50 males and 50 females) participated in current study. Examined participants were from 15 to 81 years old. Samples were extracted with salting out method while genotyping for ACTN3 gene was performed using polymerase chain reaction. The statistical analysis was done by Chi-square and by SPSS in order to estimate correlation between ACTN3 genotypes and allele frequencies in Gorani population and others. The frequency of ACTN3 RR genotype was 45%, RX was 36% and XX was 19% and allele frequencies for R was 0.63 and for X was 0.37. The frequencies of RR+RX genotypes were higher than XX genotypes. In addition, there was no big difference of ACTN3 genotypes and alleles between females and males of Gorani population. The allelic distribution of Gorani population has similarities with some European populations. According to results which are obtained in study, ACTN3 gene cannot be used as only genetic population marker, but should be used as athlete gene which is involved in finding sport talents. The present study was first study about the population of Gora. This work will be lead to other studies to determination the genetic background of Gorani population. Keywords: Alpha-actin 3 (ACTN3 gene), Gorani population, Polymerase Chain Reaction, MDS, Dendrogra