exon 3-deleted and full-length growth hormone receptor polymorphism frequencies in an iranian population

the functional role of the exon 3 growth hormone receptor ( d3 ghr) polymorphism in human and its distributions in different populations is not clearly understood. the presence of full length growth hormone ( fl ghr) is the most  important in metabolic risk factors. the aim of this study was to define the frequency distribution of d3 ghr/full-length ghr in an iranian population. the presence of the d3 ghr polymorphism in healthy volunteers blood dna (n=80, male=30 and female=50) was assessed by pcr using specific primers. the 935-bp and 592-bp fragments indicate the presence of the fl ghr and the exon3 deletion of ghr, respectively. the distribution of the ghr genotypes in this study were 31.4% (n=24) for fl/fl ghr, 49.7 % (n=41) for fl/d3 ghr, and 19.0 % ( n=15) for d3/d3 ghr. frequencies of fl allele and d3 allele were 55.4% and 44.4% within whole population, respectively. there was no difference in allels frequencies of ghr in male ( fl =0.583, d3 =0.417) and female ( fl =0.540, d3 =0.460) when compared with whole population. the results showed that the frequency of d3/d3 ghr isoform was significantly lower than that of the fl / fl ghr and d3 / fl ghr. the frequencies of ghr polymorphisms were likely consistent with previous reports. our finding is also consistant with mexican population. the advantage of existence of the d3/d3 rather than fl/fl ghr polymorphisms in individuals and in correlation with diseases opens new insights for gh and insilin-like-growth factor-1 (igf-i) axis .