Frequency of Cystathionine B-synthase 844INS 68 polymorphism in southern Iraninan population

an Indo-European origin is one of the oldest populations in the world. Historical evidences suggest the close similarity in the origin of Iranian, European and north Indian population. However, there are few anthropological and genetic evidences on this subject. This study, which is the first report from Iran, was performed to investigate the genetic basis of Iranian population using a polymorphism in Cystathionine Beta synthase (CBS) gene known as 844ins68bp. The normal fragment is 174bp long (N) and the fragment containing the insertion is 242bp in length (I). Genotyping were done by using PCR standard methods. Ascertainment of Hardy-Weinberg equilibrium in the population was checked. Results indicated that 418 (87. 08%) out of 480 individuals had a normal (N/N) genotype, 59 (12. 29%) were heterozygote (N/I) and 3 (0. 63%) had a mutated genotype (I/I). The total frequency of 844ins68bp allele was found to be 65 (6. 8%) in 960 tested chromosomes which is comparable with the reported frequencies in Caucasians. Comparison of the genotype frequencies of this study to those of other populations revealed that southern Iranian population has a great similarity to other Caucasoid populations especially populations of south Italy, Spain and North America. It was also revealed that south Iranian population is highly far from East Asian and African populations. These results are in agreement with the previous results from studies of other genetic polymorphisms. Therefore، we conclude that despite the great admixture of Iranian population with the neighboring non-Caucasoid populations during the time, South Iranian population still shares a genetic background with other Caucasian populations.