中国北方肾移植人群IMPDH-Ⅱ rs11706052位点多态性基因型分布频率的研究

Polymorphisms of inosine 5 p-monophosphate dehydrogenase type Ⅱ(IMPDH2)genes in the population of northern Chinese kidney transplant recipients

目的了解中国北方肾移植人群IMPDH-Ⅱ rs11706052位点多态性基因型分布频率,探讨IMPDH-Ⅱ rs11706052位点多态性检测在器官移植临床的意义。方法对2015年3月至2016年4月之间于中日友好医院随访的81例北方肾移植受者,采用数字荧光分子杂交测序法IMPDH-Ⅱ rs11706052位点基因多态性进行检测,采用统计学方法分析IMPDH-Ⅱ rs11706052位点多态性基因型分布频率及男女性别组间差异。结果本组81例北方肾移植受者中AA型65例(80.2%),AG型16例(19.8%),未检测出IMPDH-Ⅱ rs11706052突变纯合子GG型受者。IMPDH-Ⅱ rs11706052A等位基因频率为90.1%,G等位基因频率为9.9%。本研究样本中男女组间基因型及等位基因频率在样本中比较差异无统计学意义(P=0.389、0.416,P>0.05)。结论中国北方肾移植受者人群中IMPDH-Ⅱ rs11706052基因位点突变具有较高的检出率,其突变基因G等位基因频率为9.9%。但与国内南方人群IMPDH-Ⅱ rs11706052位点基因型频率和等位基因频率分布差异均无统计学意义。

Objective To survery the frequencies and characterstics of polymorphism of inosine 5'-monophosphate dehydrogenase type Ⅱ (IMPDH2) genes in the population of Chinese kidney transplant recipients. Methods All of 81 cases of renal transplant patients were continuously selected from March 2015 to April 2016 in the China-Japan friendship hospital. Genomic DNA was extracted from peripheral blood samples of these patients. IMPDH-Ⅱ rs11706052 single nucleotide polymorphisms (SNPs) were identified through digital fluorescence molecular hybridization and DNA sequencing.The genotypes and allele frequencies were calculated andanalyzed. Results Of the 81 patients, two genotypes of AA and AG were found in IMPDH-Ⅱ 7766A>G(rs11706052). The IMPDH-Ⅱ rs11706052 genotype frequencies of AA and AG were 80.2% and 19.8%, the minor G-allele frequency was 9.9%. There was no significant difference between sexes of each genotype and allele frequency in the population of Chinese kidney transplant recipients (P>0.05). Conclusions There is a high heterozygous or homozygous gene mutation rate of IMPDH-Ⅱ rs11706052 in renal transplant patients, the minor G-allele frequency is 9.9%. However, we do not find any significant difference of the gen-otype and allele frequency between different groups of people at home.