【摘要】：[目的]探討中國云南漢族人群中NEDD9基因rs760678位點(diǎn)單核苷酸多態(tài)性與遲發(fā)型阿爾茨海默病、輕度認(rèn)知功能障礙的相關(guān)性。 [方法]分別隨機(jī)入組云南漢族93例LOAD組患者,男性42例,女性51例,平均年齡75.1±6.4歲；67例MCI組患者,男性37例,女性30例,平均年齡73.7±5.5歲；101例正常對(duì)照者,男性55例,女性46例,平均年齡72.6±5.6歲,采用聚合酶鏈?zhǔn)椒磻?yīng)(PCR)技術(shù)及限制性內(nèi)切酶技術(shù)對(duì)所有研究對(duì)象的NEDD9基因rs760678位點(diǎn)突變進(jìn)行分型,采用spssl7.0統(tǒng)計(jì)軟件進(jìn)行統(tǒng)計(jì)分析,采用t檢驗(yàn)、χ2檢驗(yàn)、方差分析的方法,比較分析三組間基因型頻率、等位基因頻率與年齡、性別以及LOAD組疾病嚴(yán)重程度的相關(guān)性；分析比較LOAD組、MCI組不同基因型、性別與MMSE量表各項(xiàng)評(píng)分的關(guān)聯(lián)。所有統(tǒng)計(jì)檢驗(yàn)均以P0.05為差異有統(tǒng)計(jì)學(xué)意義。計(jì)數(shù)資料用%表示,計(jì)量資料用均數(shù)±標(biāo)準(zhǔn)差(x±s)表示。 [結(jié)果]LOAD組、MCI組和正常對(duì)照組三組受試者基因型和等位基因頻率分布均符合Hardy-Weinberg遺傳平衡定律,差異無統(tǒng)計(jì)學(xué)意義(P=0.889,P=0.648)進(jìn)一步按性別分層后三組基因型之間差異無統(tǒng)計(jì)學(xué)意義(P0.05),LOAD組、MCI組MMSE量表各項(xiàng)評(píng)分與基因型、性別之間差異無統(tǒng)計(jì)學(xué)意義(P0.05)。LOAD組按照疾病嚴(yán)重程度進(jìn)行分層后基因型間差異間無統(tǒng)計(jì)學(xué)意義(P0.05)。 [結(jié)論]本研究在中國云南漢族人群中,NEDD9基因rs760678位點(diǎn)單核苷酸多態(tài)性與遲發(fā)型阿爾茨海默病、輕度認(rèn)知功能障礙患者的發(fā)病無明顯關(guān)聯(lián)。
[Abstract]:[objective] to investigate the relationship between rs760678 polymorphism of NEDD9 gene and delayed Alzheimer's disease (AD) and mild cognitive impairment in Yunnan Han population. [methods] 93 patients with LOAD in Yunnan Han nationality were randomly enrolled, including 42 males and 51 females, with an average age of 75.1 鹵6.4 years, 67 patients in MCI group, 37 males and 30 females, with an average age of 73.7 鹵5.5 years. There were 55 males and 46 females with an average age of 72.6 鹵5.6 years. Polymerase chain reaction (PCR) technique and restriction endonuclease technique were used to type the rs760678 mutation of NEDD9 gene in all the subjects. Spssl7.0 software was used for statistical analysis. T test, 蠂 2 test and variance analysis were used to compare and analyze the correlation between genotype frequency, allele frequency and age, sex and severity of disease in LOAD group. The relationship between different genotypes, sex and MMSE scores in LOAD group and MCI group was analyzed and compared. All statistical tests were statistically significant (P 0.05). The counting data are represented by%, and the measurement data are represented by mean 鹵standard deviation (x 鹵s). [results] the distribution of genotype and allele frequency in LOAD group, MCI group and normal control group were in accordance with the law of Hardy-Weinberg genetic balance, and the difference was not statistically significant (P 鈮，

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