| Objective:The GHR gene polymorphisms of idiopathic short stature are the hot spots and focuses in current.We study the GHR(growth hormone receptor) gene exon 4,6 and 10 SNPs with idiopathic short stature, the influence of the SNPs to the IGF-I and IGF-BP3 in blood,and the influence to the axis of GHRH-GH-IGF-1,so to identify the correlation between the exon 4,6 and 10 SNPs of GHR gene and ISS.Methods:30 idiopathic short stature children who were in prepuberty were collected in Soochow University Affiliated Children's Hospital between the September of 2008 and the July of 2009,their average age was (8.39±2.86)years.45 controls (these controls were separated into 2 groups, one was normal group which contained 20 children whose heights were normal, the other contained 25children whose heights were between the ISS and the normal) were collected in Soochow University Affiliated Children's Hospital at the same time,they were all in prepuberty.(1) We measured the serum levels of IGF-1and IGF-BP3 in case group and control group with chemiluminescence method, and contrast the case group and control group.(2) We drew the DNA from the blood of the case group and control group children. Analysis of Polymerase Chain Reaction-Single Strand Conformation Polymorphism(PCR-SSCP) and DNA sequencing were both used to identify mutation in the GHR gene exon 4,6 and 10.(3) We contrasted the polymorphism of the GHR gene exon 4,6 and 10 between the control and case group.(4) Using theχ2 test to detect the sex difference,genotype and the allele frequency, using t test and rank sum test to detect the age,IGF-1and IGF-BP3,using the OR to describe the risk ratio of the genotype and the allele frequency,using the analysis of variance to detect the difference on IGF-1 and IGF-BP3 in serum among every genotype. All the data were processed using software of SAS 8.0.Result:1,There is no difference between the case group and control group in age and sex(P>0.05);2,There is no difference between the -1SD group and normal group(P>0.05) ;there is difference between the ISS group and normal group (P<0.05); there is difference between the ISS group and -1SD group (P<0.05);3,There is no difference between the -1SD group and normal group(P>0.05), there is difference between the ISS group and -1SD group and between the ISS group and the normal group( P <0.0001).4,The correlation between the SNPs and ISS We did not find any base change on exon 4. We find a SNP on exon 6, it is 6 119 A>G(G168G);we find another SNP on exon 10,it is 10 377 G>T(C422F).There is no difference in genotypic frequency and allele frequency on exon 6 119SNP among these groups(P>0.05);there is no difference in genotypic frequency and allele frequency on exon 10 377SNP among these groups(P>0.05).5,The correlation between the SNPs and IGF-1(1) On exon 6 119SNP,there is no difference on serum level of IGF-1 among every genotype(P>0.05);(2) On exon 10 377SNP,there is no difference on serum level of IGF-1 among every genotype(P>0.05);6,The correlation between the SNPs and IGF-BP3(1) On exon 6 119SNP,there is no difference on serum level of IGF-BP3 among every genotype(P>0.05);(2) On exon 10 377SNP,there is no difference on serum level of IGF-BP3 among every genotype(P>0.05). Conclusions:1,The serum level of IGF-1 can be the diagnosis index of prepubertal ISS;2,The serum level of IGF-BP3 can be the diagnosis index of prepubertal ISS;3,The SNP on GHR exon 6 119 is not concerned with the morbility of ISS;4,The SNP on GHR exon 6 119 can not influence the serum level of IGF-1and IGF-BP3;5,The SNP on GHR exon 10 377 is not concerned with the morbility of ISS;6,The SNP on GHR exon 6 377 can not influence the serum level of IGF-1and IGF-BP3;7,We should enlarge the number of the objects of study and engineer more primers so to make clear the reason of the decrease of IGF-1 and IGF-BP3. |
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