论文部分内容阅读
目的探讨生长激素受体(growth hormone receptor,GHR)基因的单核苷酸多态性(SNaPshot,SNP)与广西瑶族儿童特发性矮小(idiopathic short stature,ISS)遗传易感性的关系。方法采用病例对照法,对100例广西瑶族ISS病例及100例广西瑶族正常儿童分别进行身高、体重测量及血清胰岛素样生长因子-1(insulin-like growth factor-1,IGF-1)测定。利用SNaPshot技术分析这些儿童GHR基因的rs4410646、rs2940913、rs12515480等3个SNPs位点进行基因型和等位基因频率的分布情况。结果 1)rs4410646(A/C)位点AA、AC、CC基因型分布在ISS组与正常组中差异有统计学意义(P<0.05),等位基因A、C在ISS组与正常组中差异无统计学意义(P>0.05);2)rs2940913(A/C)位点AA、AC、CC基因型及等位基A、C在ISS组和正常对照组中差异无统计学意义(P>0.05);3)rs12515480(C/T)位点CC、CT、TT基因型及等位基因C、T在ISS组和正常对照组中差异均无统计学意义(P>0.05);4)ISS组儿童IGF-1水平明显低于正常组儿童。结论 GHR基因的rs4410646、rs12515480、rs2940913等3个SNPs位点变异性与广西瑶族儿童特发性矮小症无相关性。
Objective To investigate the relationship between single nucleotide polymorphisms (SNaPshot, SNP) of growth hormone receptor (GHR) gene and genetic susceptibility to idiopathic short stature (ISS) in Yao children in Guangxi province. Methods The case-control method was used to measure the height and weight of 100 ISS cases of Guangxi Yao ethnic group and 100 normal children of Yao ethnic group in Guangxi province, and to determine the serum insulin-like growth factor-1 (IGF-1) level. SNaPshot technique was used to analyze the distribution of genotype and allele frequency of rs4410646, rs2940913, rs12515480 SNPs in these children’s GHR gene. Results 1) The distribution of AA, AC and CC genotypes in rs4410646 (A / C) site was significantly different between ISS group and normal group (P <0.05). The allele A and C in ISS group and normal group There was no significant difference between the two groups (P> 0.05); 2) AA, AC, CC genotype and allele A, C of rs2940913 (A / C) were not significantly different between ISS group and normal control group > 0.05). 3) There was no significant difference in genotypes C, T and TT of rs12515480 (C / T) between ISS group and normal control group (P> 0.05) The level of IGF-1 in ISS group was significantly lower than that in normal group. Conclusion There is no correlation between the SNPs loci of rs4410646, rs12515480 and rs2940913 of GHR gene and idiopathic short stature of Yao children in Guangxi province.