二氢脂酰胺琥珀酰转移酶基因型与Alzheimer病遗传易感性的关系

Association between DLST gene polymorphism and Alzheimer′s disease

目的 探讨二氢脂酰胺琥珀酰转移酶 (DLST)基因 1 3号内含子A1 91 1 7G和 1 4号外显子C1 91 83T位点基因多态性与散发性Alhzeimer病 (SAD)遗传易感性的关系。方法 应用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)方法检测了 1 0 5例SAD患者和 1 0 9名正常老年人的DLST基因多态性分布特征。结果 SAD组AC等位基因频率、AC/AC、AT/AT单倍体基因型频率低于对照组。SAD组分别为 1 3 %、3 %、1 0 % ,对照组分别为 1 7%、9%、1 7% ;SAD组GC等位基因频率、GC/GC单倍体基因型频率高于对照组。SAD组为 48%、3 0 % ,对照组为 43 %、2 4% ,但 2组差异无显著意义 (P >0 .0 5)。SAD组AT/AC单倍体基因型频率高于对照组 :SAD组为 2 1 % ,对照组为 1 0 % ,2组差异有显著意义 (P≤ 0 .0 5) ,相对危险性为 2 .3 6。结论 携带DLST基因AT/AC单倍体基因型的个体较非携带者患SAD的风险增高 2 .3 6倍。

Objective To investigate the association between the polymorphic alleles of dihydrolipoamide succinyltransferase (DLST) gene cDNA at position A19117G in intron 13 and C19183T in exon 14 and the risk for sporandic Alzheimer′s disease(SAD). Methods The polymorphism of DLST gene was detected using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP)techniques in 105 patients with sporadic Alzheimer disease and 109 normal controls. Results The freguency of AT/AC genotype was found to be significantly higher in SAD patients(21%) than in controls (10%) with an odds ratio of 2.36 ( P <0.05). The frequencies of AC/AC, AT/AT genotypes and AC allele were slightly decreased in cases with SAD as compared with controls. While the frequencies of the GC/GC genotype and GC allele were slightly higher in SAD patients than in controls. However, these differences were not statistically significant ( P >0.05). Conclusion The AT/AC genotype of DLST gene is associated with an increased risk for SAD.