【摘要】 目的分析汉族人群中脑源性神经营养因子(BDNF)基因G196A、C270T、G11757C和G712A单核苷酸多态性(SNPs)和单体型频率与散发性Alzheimer病(sAD)的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测106例sAD患者和110名健康对照者BDNFG196A、C270T、G11757C和G712A基因型和等位基因频率,采用SHEsis软件进行连锁不平衡及单体型分析。结果sAD组及健康对照组C270T位点T等位基因频率分别为0.9%及4.5%,G712A位点GG基因型频率分别为95.4%、91.8%,A等位基因频率分别为0.5%及4.5%;两组比较差异有统计学意义(均P<0.05)。单体型分析显示,sAD组和健康对照组GTGA频率分别为0.5%和3.2%,差异有统计学意义(P<0.05)。结论BDNF基因多态性可能与中国汉族人群sAD发病有关。更多还原

【Abstract】 Objective To analysis the relationship between the single nucleotide polymorphisms (SNPs) of G196A, C270T, G11757C, G712A and haplotypes frequencies of brain-derived neurotrophic factor (BDNF) gene and Chinese Han population with sporadic Alzheimer’s disease (sAD). Methods The genotype and allele frequencies of BDNF G196A, C270T, G11757C and G712A were analyzed by polymerase chain reaction-restriction fragment length polymorphism technology in 106 sAD patients and 110 healthy controls. The software SHEsis was used to analyze the linkage disequilibrium and the haplotypes between the two groups. Results There were statistically differences in T allele frequeny of C270T (sAD vs control: 0.9% vs 4.5%) and A allele freguency of G712A (sAD vs control: 0.5% vs 4.5%) and in GG genotype frequeny of G712A (sAD vs control: 95.4% vs 91.8%) (all P<0.05). These was significant difference of the frequency of GTGA haplotype in the 2 groups (sAD vs control: 0.5% vs 3.2%) (P<0.05). Conclusion The polymorphisms of BDNF gene may be related to onset of sAD in the Chinese Han population.更多还原