妊娠期糖尿病患者血清中APN表达及其基因rs16861194A/G位点多态性分析

目的了解深圳地区妊娠期糖尿病(Gestational Diabetes Mellitus,GDM)患者血清中脂联素(Adiponectin,APN)、空腹胰岛素(fasting insulin,FINS)及胰岛素抵抗指数(HOMA-IR)表达情况,并分析APN基因位点rs16861194 A/G单核苷酸多态性。方法收集2017年3月~2018年9月在深圳市龙华区人民医院妇产中心进行产前检查时诊断为GDM孕妇132例为GDM组,正常妊娠孕妇150例为对照组,分别采用酶联免疫吸附法(ELISA)检测孕妇血清中APN和FINS水平,用AU5800全自动生化分析仪检测血清中空腹血糖(Fasting plasma glucose,FPG),并采用直接测序法检测APN基因位点rs16861194A/G基因多态性,比较分析两组血清中APN、FINS和HOMA-IR水平及APN基因位点rs16861194A/G基因型和等位基因频率之间的差异性。结果 GDM组孕妇血清中APN水平明显低于对照组,差异有统计学意义(P<0.05),而FPG,FINS及HOMA-IR水平明显高于对照组,差异有统计学意义(P<0.05);GDM组孕妇APN基因rs16861194A/G位点GG基因型和G等位基因检出率分别为21.97%和41.29%,明显高于对照组的4.67%和20.67%,差异均有统计学意义(χ~2=5.0954~2.8159,P<0.05);GG基因型GDM患者血清中APN水平明显低于其它基因型,差异有统计学意义(P<0.05),而FPG,FINS及HOMA-IR水平明显高于其它基因型,差异有统计学意义(P<0.05)。结论深圳地区GDM患者的APN基因rs16861194A/G位点存在多态性分布,其中GG基因型及G等位基因检出率明显升高,可能导致本地区GDM患者发病的易感危险基因之一。     

Tim-3启动子区-574基因多态性与变应性哮喘的关系

目的:探讨引物特异PCR-核酸序列测定技术检测T细胞免疫球蛋白域粘蛋白域蛋白-3(Ti m-3)启动子区-574G>T单核苷酸变异及其与湖北地区汉族人群支气管哮喘易感性之间的关系。方法:分别采用引物特异聚合酶链反应(PCR)-核酸序列测定技术检测湖北地区296例哮喘患者和202例健康对照人群Ti m-3启动子区-574G>T单核苷酸变异,计算基因型和等位基因频率。结果:湖北健康人群中Ti m-3启动子区-574位G/G、G/T和T/T基因型频率分别是0.990、0.010和0,而哮喘患者频率分别为0.929、0.071、0,其基因型频率与对照组差异有显著性(χ2=10.14,P<0.01)。结论:引物特异PCR-核酸序列测定技术可用于检测Ti m-3启动子区-574G>T单核苷酸变异的检测;湖北汉族人群中Ti m-3启动子区存在多态性变异,其中-574G>T多态性可能与湖北汉族人群变应性哮喘易感性有关。     

妊娠期高血压患者血清中CGRP表达及CALCA基因-692 T/C位点多态性分析

目的了解深圳龙华区妊娠期高血压(gestational hypertension,GH)患者血清中降钙素基因相关肽(Calcitonin gene related pept ide,CGRP)水平表达情况,并探讨CALCA基因-692T/C位点多态性与GH之间的易感性。方法收集2016年1月～2018年12月来医院产检并确诊为GH患者156例为研究组,选择同期来医院产前检查的健康孕妇109名为对照组,分别采用酶联免疫吸附法(ELISA)检测血清中CGRP水平,同时采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术法对CALCA基因-692T/C位点多态性进行分析,并对检测结果进行统计分析。结果 GH患者血清中CGRP水平为23.06±1.78pg/ml,明显低于对照组的41.59±3.22pg/ml,差异有统计学意义(t=6.9027,P0.05);GH患者血清中CALCA基因-692T/C位点CC基因型及C等位基因频率分别为13.46%和21.15%,明显高于对照组的1.83%和5.96%,差异有统计学意义(χ~2=5.8025～11.6431,P0.05);携带CALCA基因-692T/C位点CC基因型的GH患者血清中CGRP水平为14.97±0.82pg/ml,明显低于携带TC和TT基因型的21.85±1.43pg/ml和25.03±1.93pg/ml,差异有统计学意义(t=5.1405～6.0732,P0.05)。结论深圳龙华地区GH患者血清中CGRP水平明显降低,而CALCA基因-692T/C位点CC基因型及C等位基因频率明显高于健康孕妇,且携带CC基因型的GH患者血清中CGRP水平明显低于其他基因型。因此,CALCA基因-692T/C位点多态性可能与本地区GH患者的发生和发展有一定的关联性。     

系统性红斑狼疮患者血清中Tim-1蛋白水平及其基因多态性

目的:检测T细胞免疫球蛋白黏蛋白域蛋白-1(Tim-1)在系统性红斑狼疮患者和健康对照组血清中的浓度,比较不同基因型间Tim-1蛋白的浓度,及其基因第4外显子插入/缺失多态性,分析其与系统性红斑狼疮的关系。方法:采用ELISA方法测定Tim-1蛋白在血清中的浓度;PCR反应检测TIM-1的第4外显子插入与缺失多态性,计算基因型与等位基因的频率。结果:系统性红斑狼疮患者和健康对照组血清中Tim-1蛋白的浓度分别是:(263.083±276.953)和(58.527±92.424)pg/ml,两组之间的差异有统计学意义;SLE患者TIM-1的第4外显子缺失/缺失纯合子与缺失/插入杂合子的Tim-1蛋白的浓度分别为(307.360±284.079)和(191.750±256.708)pg/ml,两组之间无显著性差异。健康对照组TIM-1的第4外显子缺失/缺失纯合子与缺失/插入杂合子的Tim-1蛋白的浓度分别为(70.295±109.917)和(40.468±41.739)pg/ml,两组之间无显著性差异。对照组的TIM-1的第4外显子缺失/缺失纯合子,缺失/插入杂合子,插入/插入纯合子基因型频率分别是0.617,0.321,0.062;系统性红斑狼疮患者相应的基因型频率是0.652,0.326,0.022。两组之间无显著性差异。结论:Tim-1蛋白在系统性红斑狼疮患者血清中的浓度升高,与系统性红斑狼疮的正相关。但是第4外显子插入与缺失多态性与系统性红斑狼疮无相关性,该突变不改变Tim-1蛋白在血清中的水平。     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

目的 探讨广西地区parkin基因启动子区-258T/G多态性与散发性帕金森病(sporadicParkinson's disease,SPD)的相关性及该多态性与PD发病年龄的关系.方法 PCR-RFLP及DNA测序等技术,分析parkin基因-258T/G多态性在PD患者和健康对照者间分布频率的差异.结果 PD组parkin基因-258T/G多态性位点G等位基因频率显著高于正常对照组(55.20%:43.33%,x2=6.898,P<0.05,OR=1.61,95%CI:1.13～2.30);GG基因型频率显著高于对照组(28.00%:18.33%,x2=7.159,P<0.05,OR=2.75,95%CI:1.31-5.77).同时,TG+GG基因型频率亦显著高于对照组(82.40%:68.33%,x2=6.551,P<0.05,OR=2.17,95%CI:1.20～3.93).50岁及50岁以上发病患者G等位基因频率和GG基因型频率显著高于对照组,50岁以下发病患者各频率虽高于正常对照组但差异无统计学意义.结论 Parkin基因核心启动子区-258T/G多态G等位基因可能增加了广西地区PD发病风险,且与PD发病年龄成正相关.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

Parkin基因启动子区-258T/G多态性与广西地区散发性帕金森病的相关性分析

Objective To investigate the association between the-258T/G polymorphism.in the pro-moter of parkin gene and the risk for sporadic parkinson's disease (SPD) in Guangxi Province, and in relationto the age of onset, of PD patients. Methods PCR-RFLP and sequence analysis were used to determine thegenotype of-258T/G polymorphism between all patients and healthy controls. Results The G allele was morecommon in patients than controls (55.20%:43.33% ,x2=6.898, P<0.05, OR=1.61, 95% CI: 1.13 ～2.30). The frequency of GG genotype was higher in patients than in controls (28.00 %: 18.33%, x2=7.159, P<0.05, OR=2.75, 95% CI : 1.31 ～ 5.77). The frequency of TG + GG genotype was higher in pa-tients than in controls (82.40%:68.33%, x2=6.551, P<0.05, OR=2.17.95%CI: 1.20 ～3.93). Afterbeing stratified by onset age, the frequencies of the G allele and GG genotype were significantly higher in pa-tients with onset age over 50 years than those in controls respectively. On the other hand, the frequency was notsignificantly different between the younger onset PD patients and the controls. Conclusion The parkin promot-er-258T/G polymorphism might be a risk factor for PD in Guangxi Province, and the G allele was increasedwith increasing age.     

早老素-1基因启动子区-48C/T位点多态性与LOAD的遗传相关性

目的研究早老素-1基因启动子区-48C/T位点的多态性与迟发性AD(LOAD)的相关性.方法用常规方法从人外周血白细胞中抽提基因组DNA,PCR扩增出包含-48C/T多态性位点的基因片段,利用PCR-RFLP技术对-48C/T多态性位点进行基因分型,χ2检验分析-48C/T多态性位点基因型分布和等位基因频率.结果以33例AD病例和32例对照样品的外周血白细胞基因组DNA为模板,PCR扩增出了长度为344bp的包含-48C/T多态性位点的基因片段.基因分型结果表明,33例散发型AD的C和T等位基因频率分别为47%和53%,C/T和T/T基因型频率分别为94%和6%.而32例正常对照的C和T等位基因频率分别为48%和52%,C/T和T/T基因型频率分别为97%和3%.χ2检验结果显示,病例-对照样品间C和T等位基因频率及C/C、C/T和T/T基因型的分布均无显著性差异(χ2值分别为0.443和0.318,P>0.05).结论在我们研究的群体中,早老素-1基因启动子区-48C/T位点的多态性与LOAD无显著的遗传相关性.     

MCP-1启动子-2518位点基因多态性与云南汉族SLE的研究

目的研究单核细胞趋化蛋白-1（MCP-1）启动子-2518位点基因多态性与云南汉族系统性红斑狼疮（SLE）及狼疮性肾炎（LN）的联系。方法采用聚合酶链反应（PCR）与限制性片段长度多态性（RFLP）方法对61例SLE患者（SLE合并LN患者28例,SLE未合并LN患者33例）和65例正常对照的MCP-1启动子-2518位点基因多态性分布进行分型,以SPSS12．0分析软件分析该基因位点多态性情况。结果各组MCP-1启动子-2518位点基因型A／G较A／A、G／G出现的频率升高;各组MCP-1启动子A／A、G／G及A／G出现的频率无显著性差异（P〉0．05）。结论MCP-1启动子-2518位点基因多态性与SLE、LN的发病和病情之间均无联系。     

妊娠期糖尿病患者血清中TGF-β_1表达水平及其基因rs1800470T/C位点单核苷酸多态性分析

目的了解妊娠期糖尿病(GDM)患者转化生长因子-β_1(TGF-β_1)水平情况,并探讨其基因rs1800470T/C位点单核苷酸多态性(SNP)与深圳地区GDM之间的遗传易感性。方法选择2017年6月至2019年5月于深圳市龙华区人民医院就诊并确诊为GDM患者154例(GDM组),年龄23～42岁,平均年龄29.03岁;孕周24～28周,平均孕周26.02周;体质量指数24～31 kg/m~2。同期产检的非GDM孕妇120例(HC组),年龄24～40岁,平均年龄28.49岁;孕周25～28周,平均孕周26.53周;体质量指数23～32 kg/m~2。采用酶联免疫吸附分析(ELISA)法检测TGF-β_1水平,同时采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测TGF-β_1基因rs1800470T/C位点SNP。结果 GDM组患者血清中TGF-β_1水平为(23.97±3.48) ng/L,明显高于HC组[(14.06±1.52) ng/L],差异有统计学意义(t=3.105 7,P 0.05)。GDM组患者TGF-β_1基因rs1800470T/C位点CC基因型和C等位基因检出率分别为31.17%和53.57%,明显高于HC组(12.50%和33.33%),差异有统计学意义(P 0.05);携带TGF-β_1基因rs1800470T/C位点CC基因型GDM患者TGF-β_1水平为(35.92±5.16) ng/L,明显高于TT和TC基因型[(17.57±1.89) ng/L和(19.07±2.46) ng/L],差异有统计学意义(t=4.260 3～4.528 9,P 0.05);而TT和TC基因型之间差异无统计学意义(t=0.980 5,P 0.05)。结论GDM患者TGF-β_1基因rs1800470T/C位点CC基因型及C等位基因检出率明显升高,且CC基因型GDM患者TGF-β_1水平明显升高。因此,CC基因型可能是深圳地区GDM发病的易感危险遗传基因之一。     

载脂蛋白(a)启动子-418A/G位点和-384C/T位点单核苷酸多态性的研究

目的:研究载脂蛋白(a)启动子区-418位点和-384位点的单核苷酸多态性(SNP),比较种族间单核苷酸的基因型频率分布差异,探讨它们对血脂的影响及同冠状动脉疾病(CHD)的相关性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的分析方法,检测了中国湖北汉族人群无血缘关系的156名健康者及56例CHD患者和65例无血缘关系的非洲贝宁黑种人的Apo(a)启动子-418位点、-384位点单核苷酸的基因型,并对作为酶切底物的PCR产物进行了T-载体法克隆测序。同时,测定血清脂蛋白(a)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、ApoAI及ApoB浓度。结果:(1)在对照组中Apo(a)启动子区-418位点只存在等位基因A,未见等位基因G,只有AA基因型,-384位点只存在等位基因C,未见等位基因T,仅有CC基因型;CHD组中,-418位点仅检出1例突变型(GG型),-384位点只有CC型,未发现突变基因T。(2)贝宁黑种人组中,-418位点检出两例突变型(GG型),其他均为AA基因型;-384位点只存在等位基因C,也未发现突变基因T,只有CC基因型。(3)测序结果表明对照人群中Apo(a)基因启动子区(-541--341)序列与GenBank所公布的序列是一致的,并且-418位点碱基为A,-384位点碱基为C。结论:汉族人群中Apo(a)基因启动子区-418位点和-384位点碱基突变率较低,不构成单核苷酸多态性(SNP),与脂质水平及CHD未显示相关性;贝宁黑种人-418位点具有多态性;在种族间的SNP可能存在着较大的差异。