目的 探讨散发型阿尔茨海默病患者(SAD)分拣蛋白相关受体L1(SORL1)基因突变与mRNA水平的相关性,为临床早期诊断阿尔茨海默病和预后提供理论依据.方法 随机选择SAD患者55例(SAD组),另选健康体检者15例(对照组),取外周血进行SORL1基因mRNA水平检测以及全长cDNA测序分析,并将基因突变与未突变SORL1基因mRNA进行相关性分析.结果 SAD组有8例出现不同位点的SORL1基因突变,其发生概率为14.5％,较为常见的突变位点为2650以及2850碱基序列,而对照组未检测到SORL1基因突变.SAD组SORL1基因mRNA表达水平较对照组明显减低,差异有统计学意义(P＜0.01);SAD组SORL1基因突变患者与未突变患者mRNA水平比较,差异无统计学意义(P＞0.05).结论 SORL1基因突变可能参与SAD的发生；SORL1基因突变与SORL1基因mRNA水平无明显相关性.%Objective To provide the theoretical evidence for the early diagnosis and prognosis of Alzheimer's disease (AD) by studying the correlation between sortilin-related receptor like 1 (SORL1) gene mutation and expression in sporadic ADC SAD) patients. Methods Fifty-five SAD patients and 15 healthy persons enrolled in this study served as SAD group and control group,respectively. SORL1 mRNA level in peripheral blood was measured by RT-PCR and full length cDNA was sequenced. Correlation between mutated and non-mutated SORL1 mRNA levels was analyzed. Results SORL1 mutations occurred at different positions in 8 patients of SAD group with a frequency of 14. 5%. The mutation usually occurred at 2650 and 2850 bases. However,no mutation of SORL1 was detected in control group. The SORL1 mRNA expression level was significantly lower in SAD group than in control group(F<0. 01). However,no significant difference was observed in the SORL1 mRNA expression level between patients with and without SORL1 mutation(P>0. 05). Conclusion SORLI gene mutation may be involved in the occurrence of SAD, which is not significantly correlated with the SORLI mRNA level.
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