Analysis of ACE I/D polymorphism in Gorani population

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Analysis of ACE I/D polymorphism in Gorani population


Buljubašić, Sanida


Angiotensin converting enzyme (ACE) gene is 21 kb long gene that is located on chromosome 17q23. Protein coded by this gene, ACE enzyme causes conversion of inactive angiotensin I to active angiotensin II that presents key component of Renin Angiotensin System(RAS) that is known to functions in control of blood pressure and balance of fluids and salts in the body. ACE also increases degradation of bradykinin. It has been shown that ACE gene contains a polymorphism based on the presence (insertion [I]) or absence (deletion [D]) of 287 bp Alu sequence in intron 16. Accordingly, it leads to the generation of three genotypes: deletion homozygotes (DD), insertion homozygotes (II), and heterozygotes (ID). Studies have identified correlation between ACE polymorphism and different diseases as well as correlation between one of three genotypes and sport performance. The main aim of this study was to identify genotype and allele frequencies of ACE gene in Gorani population. Comparison of these results to the results of other population studies on ACE polymorphismswe aimed to understand genotype composition of studied population as well as to see if ACE gene presents suitable genetic marker that could be used in population studies. Genotypes of hundred unrelated individuals were determined by using method initially described by Rigat et al (1992). As overamplification of D allele can cause ID genotype mistyping, DD individuals were subjected to second PCR in which presence or absence of I allele was controlled. Results of the first and second PCR were detected by 2% and 1,5 % gel electrophoresis, respectively. Results of ACE testing revealed that Gorani population is in Hardy Weinberg equilibrium, where the most common genotype is ID(63%), followed by DD (20%) and II (17%) genotypes. When results of present study where compared to other population studies, the highest correlation was observed with Hungarian, Croatian, Serbian and Turkish populations. MDS plot as well as dendrogram revealed grouping of population according to geographical position, being more reliable based on continental distribution. Keywords: ACE gene, ACE polymorphism, Gorani population, Polymerase Chain Reaction, MDS, Dendrogram