目的 检测不同水平同型半胱氨酸(HCY)患者5,10-亚甲基四氢叶酸还原酶(MTHFR)基因第677核苷酸的突变频率,探讨MTHFR基因多态性与不同HCY水平的相关性.方法 以HCY大于15 μmol/L的受检者(435例)作为实验组,将实验组按照HCY水平分成4组:15 μmol/L＜ HCY≤20 μmol/L为第一组;20 μmol/L＜HCY≤25 μmol/L为第2组;25 μmol/L＜ HCY≤30μmol/L为第3组;HCY＞ 30 μmol/L为第4组,同时以HCY≤15 μmol/L的人群(229例)为对照组.用DNA微阵列技术检测实验组和对照组MTHFR基因第677核苷酸的突变,统计分析各组MTHFR基因型及等位基因频率分布.结果 MTHFR基因677位核苷酸由C变异为T与HCY水平显著相关(x2=180.16,P＜0.0001),且随着HCY水平升高T等位基因频率呈增大趋势,经线性趋势检验有统计意义(x2=156.67,P＜0.0001);同时,单独一组与对照组比较,MTHFR基因型和等位基因频率分布没有显著差异(x2=0.031,P＞0.05).结论 MTHFR 677位等位基因由C突变为T是导致HCY水平明显升高的重要原因,而且是导致HCY＞ 30 μmol/L的主要原因;而HCY轻度升高(15 μmol/L＜ HCY≤20 μmol/L)可能为其它原因所致,并非MTHFR基因突变引起.

目的 探讨DNA微阵列技术检测CYP2C19基因多态性的应用价值.方法 用PCR结合DNA微列阵技术检测300例精神疾病患者的CYP2C19基因型,并用DNA测序法验证DNA微列阵技术检测结果的可靠性.结果 CYP2C19基因型检测结果分别为快代谢型109例(36.3％),中等代谢型158例(52.7％),慢代谢型33例(11.0％);DAN微阵列技术检测结果与DNA测序法结果完全一致;患者性别之间基因型和表型所占比例差异均无统计学意义(P均＞0.05).结论 DNA微阵列技术检测CYP2C19基因多态性具有快速、准确的特点,可替代DNA测序法用于个体化医疗.

Objective To investigate the relation of alzheimer disease(AD),vascular dementia(VD)and mild cognitive impairment(MCI)with plasma brain-derived neurotrophic factor(BDNF).Methods All subjects included 50 MCI,45 AD,30 VD and 40 healthy elderly.The concentration of BDNF were tested by enzyme-linked immunosorbent assay(ELISA).Results BDNF concentrations were significant different in MCI group(6.2 ± 5.1)μg /L,AD group(8.1 ± 5.0)μg /L,VD group(5.6 ± 4.8)μg /L,compared with control group(6.4 ± 3.1)μg /L(P = 0.013),and BDNF concentrations in AD group was higher than MCI and VD groups(P < 0.05).There were significant differences between moderate-to-severe AD group and MCI group(P = 0.023).There were no significant correlation between BDNF concentration and gender,age,duration,stroke frequency,MMSE score,CDR score and ADL score in all groups.Conclusions Plasma BDNF concentration in AD group were higher than MCI and VD groups,but BDNF concentration were not related with the course of disease course and cognitive impairment in the three groups.

探讨血浆同型半胱氨酸(Hcy)浓度与阿尔茨海默病(AD)、血管性痴呆(VD)和轻度认知障碍(MCI)间的相关性.