论文部分内容阅读
目的:初步探讨L-选择素基因rs4987318、rs2229569、rs4656697、rs78261125单核苷酸多态性(SNP)与一家族性2型糖尿病肾病的相关性,为个体化治疗糖尿病肾病提供基础资料。方法:应用聚合酶链式反应(PCR)-基因测序技术检测同一家系中6名糖尿病肾病患者和13名健康成员L-选择素基因多态性。结果:rs4987318位点基因型在该家系中基因型全部为AA,rs2229569位点基因型在该家系中基因型全部为CC,rs4656697位点在该家系中有GG、GC和CC型,患者组基因型频率为GG(50%),GC(50%)对照组基因型频率为GG(61.54%),GC(30.77%),CC(7.69%),应用Fisher精确检验差异无统计学意义(P>0.05)。rs78261125位点在该家系中有GG和GC,病例组基因型频率为GG(33.33%),GC(66.67%),对照组基因型频率为GG(69.23%),GC(30.77%),应用Fisher精确检验差异无统计学意义(P>0.05)。结论:L-选择素基因rs4987318位点与rs2229569位点在该家系内无多态性;rs4656697位点与rs78261125位点多态性与该家族二型糖尿病肾病之间未发现相关性。
Objective: To investigate the association between the single nucleotide polymorphisms (SNPs) of rs4987318, rs2229569, rs4656697 and rs78261125 of L-selectin gene and one familial type 2 diabetic nephropathy and to provide basic data for the individual treatment of diabetic nephropathy. Methods: Polymerase chain reaction (PCR) - gene sequencing was used to detect L-selectin gene polymorphisms in 6 diabetic nephropathy patients and 13 healthy individuals in the same pedigree. Results: The genotypes of rs4987318 locus were all AA in this pedigree. The genotypes of rs2229569 locus in this locus were all CC. The rs4656697 locus had GG, GC and CC genotypes in this pedigree. The frequencies of GG (50%), G (61.54%), GC (30.77%) and CC (7.69%) in GC (50%) control group were no significant difference by Fisher exact test (P> 0.05). The rs78261125 locus had GG and GC in this pedigree. The frequency of genotype in case group was GG (33.33%) and GC (66.67%). The genotype frequencies in control group were GG (69.23%) and GC (30.77% Exact test difference was not statistically significant (P> 0.05). CONCLUSION: There is no polymorphism of rs4987318 locus and rs2229569 locus in L-selectin gene. No association was found between rs4656697 locus and rs78261125 locus polymorphism and this type II diabetic nephropathy.