对氧磷酶2基因S311C多态性与脑出血关系的研究

目的 探讨对氧磷酶2（paraoxonase 2,PON2）基因多态性与脑出血（intracerebral hemorrhage,ICH）的关系.方法 用聚合酶链反应-限制性片段长度多态性分析法（PCR-RFLP）探查PON2基因S311C多态性在脑出血组和对照组的基因频率.结果 中国湖南人存在PON2 S311C基因多态性,S/C 0.727/0.273 脑出血组患者PON2基因的基因型及等位基因频率与对照组比较均没有显著差异（P＞0.05） 脑出血组内各基因型及等位基因频率的血糖、血脂水平比较均未发现有显著性差异（P＞0.05）.结论 PON2基因第311位密码子的多态性与脑出血无关.     

对氧磷酶2 G148A基因多态性与脑梗死的关系

目的 探讨对氧磷酶 2( PON2)基因多态性与脑梗死(CI)的关系.方法 用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)检测 PON2 G148A基因多态性在CI组和健康对照组的基因型和等位基因频率;同时测定CI组的血脂、血糖.结果 CI组患者 PON2基因G148A的基因型和等位基因频率与健康对照组相比差异无统计学意义( 均P>0.05);CI组各基因型及等位基因频率间的血脂、血糖比较均无统计学意义.结论 CI患者 PON2基因第148位密码子的多态性可能与CI的发生无关.     

石家庄地区人群对氧磷酶3基因多态性研究

目的探讨石家庄地区人群对氧磷酶3(PON3)A99A基因多态性的分布情况。方法应用聚合酶链式反应—限制性酶切片段长度多态性(PCR-RFLP)。方法对209例石家庄地区健康汉族人进行PON3 A99A基因多态性分析。结果石家庄地区汉族人群PON3 A99A基因多态性符合Hardy-Weinberg遗传平衡定律,具有代表性。石家庄地区人群、海南地区黎族人群、美国人群和意大利人群PON3 A99A基因型分布均各不相同(P0.05)。石家庄地区人群、北京地区人群、海南地区黎族人群、美国人群、英国人群和意大利人群PON3 A99A等位基因分布频率各不相同,差异显著(P0.05)。结论石家庄地区人群PON3A99A基因型频率分布和等位基因频率有其独特性。PON3 A99A的基因多态性在地域和人种中的分布有差异(P0.05)。     

河北健康汉族人群GSTO2基因多态性研究

目的探讨河北汉族人群谷胱甘肽硫-转移酶O2(GSTO2)基因多态性的分布情况。方法应用聚合酶链式反应-限制性酶切片段长度多态性(PCR-RFLP)方法对210例河北汉族正常人进行GSTO2N142D和GSTO2 A183G基因多态性分析。结果河北汉族人群GSTO2 N142D和GSTO2 A183G基因多态性符合Hardy-Weinberg遗传平衡定律。河北汉族人群GSTO2 N142D基因型频率分布和等位基因频率分布与贵州汉族人群、台湾地区人群、泰国人群、伊朗人群、意大利人群、美国人群有显著差异(P0.05)。河北汉族人群GSTO2 A183G基因型频率分布与台湾地区人群、德国人群、美国人群有显著差异(P0.05),而与日本人群无显著差异(P0.05);但其等位基因频率与台湾地区人群、日本人群、德国人群、美国人群有显著差异(P0.05)。结论河北汉族人群GSTO2基因存在多态性,具有特异性。     

河北汉族人群NQO1基因多态性研究

目的探讨河北汉族人群NQO1基因多态性。方法应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测209例河北汉族人群NQO1基因多态性。结果河北汉族人群NQO1基因多态性符合Hardy-Weinberg遗传平衡定律,具有代表性。NQO1C/C、C/T、T/T基因型分布频率分别为22.97%、55.98%、21.05%。NQO1基因多态性无显著的性别差异(P(0.05)。结论河北汉族人群NQO1基因存在多态性,本研究结果与国内外相关报道有一定的差异,不同种族、不同地域人群NQO1基因的遗传特征各具特点。     

河北地区散发性肌萎缩侧索硬化PON2 C311S基因多态性研究

目的 研究PON2 C311S基因多态性与河北地区散发性肌萎缩侧索硬化(SALS)发病易感性的关系.方法 应用聚合酶链式反应-限制性酶切片段长度多态性(PCR-RFLP)方法对河北地区108例SALS患者和117例健康汉族人进行PON2 C311S基因多态性分析.结果 本研究中病例组与健康对照组PON2 C311S基因...     

对氧磷酶1基因启动子区-909C/G多态性与脑梗死的相关性

目的探讨中国包头地区人群中对氧磷酶1(PON1)启动子基因-909C/G基因多态性与脑梗死的关系。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,对脑梗死患者150例及正常对照组150例PON1启动子基因-909C/G酶切位点的限制性片段长度多态性进行分析。多因素Logistic回归分析脑梗死患者易患因素。结果病例组GG基因型及G等位基因频率均显著高于对照组(P0.05)。多因素Logistic回归分析脑梗死患者易患因素:高血压史、冠心病史、高脂血症、G等位基因增加脑梗死的发生概率,差异有统计学意义(P0.05),高密度脂蛋白(HDL)降低脑梗死的发生概率,差异有统计学意义(P0.05)。结论高血压、高血脂、冠心病、G等位基因是脑梗死发病的危险因素。对氧磷酶1基因-909C/G基因多态性与脑梗死的遗传易感性显著相关,基因型GG可能是脑梗死的危险因子,G等位基因可能是脑梗死的易感等位基因。     

对氧磷酶基因多态性与动脉粥样硬化性脑梗死的关联

目的探讨对氧磷酶(paraoxonase,PON)基因多态性与动脉粥样硬化性脑梗死合并高血压的关系。方法用聚合酶链反应—限制性片段长度多态性分析法探讨PON1 55M/L和PON1 192Q/R的基因多态性在脑梗死合并高血压组、脑梗死无高血压组以及正常对照组的基因频率。结果与对照组(100例)相比,脑梗死组(105例)PON1-L55M的M等位基因频率明显高于对照组(P<0.05),而两组间PON1-Q192R、基因型与等位基因频率分布无统计学差异(P>0.05),动脉粥样硬化性脑梗死合并高血压患者中PON1-L55M的M等位基因频率明显增高(P<0.05)。结论中国人PON1基因第55位密码子的多态性与动脉粥样硬化性脑梗死合并高血压有关,M等位基因是高血压并发动脉粥样硬化性脑梗死的危险因素之一。     

血清对氧磷酶L55M基因多态性与动脉粥样硬化性脑梗死的关系

目的 探讨中国湖南汉族人群血清对氧磷酶（PON1）L55M基因多态性与动脉粥样硬化性脑梗死（ACI）的关系。方法 筛选153例ACI及153名健康人群为研究对象。采用聚合酶链式-限制性片段长度多态性办法检测PON1-L55M基因多态性。结果 在研究总人群中没有发现MM基因型。ACI组LL、LM基因犁频率分别为96．7％、3．3％,L、M等位基因频率分别为0．991、0．016;正常对照组LL、LM基因型频率为93.5％和6．5％．L、M等位基因频率分别为0．968和0．032。PON1-L55M各基因型和等位基因频率在ACI和正常对照组分布差异无显著性。结论 PON1-L55M基因多态性可能与中国湖南汉族人群ACI发病无关。     

对氧磷酶-2(PON2)基因研究进展

对氧磷酶（PON）基因家族包括三个成员：PON1、PON2和PON3。其中PON2的表达产物PON2在体内广泛分布,并与糖尿病、家族性高胆固醇血症、动脉粥样硬化等疾病有关。本文将对PON2的生物化学特性、体内活性及其基因多态性与疾病关系的研究进展进行综述。     

新疆维吾尔族人群细胞色素P450酶同工酶2C19基因多态性：与汉族人群的比较

背景：研究已证实细胞色素P450酶同工酶2C19,其代谢表型呈现遗传多态性,表现为强、弱代谢型,而且存在显著的种族间和个体间差异。 目的：观察新疆维吾尔族人群胞色素P450酶同工酶2C19基因多态性分布情况。 方法：纳入144例新疆维吾尔族和156例汉族健康志愿者,采用多聚酶链反应-限制性片段长度多态性法进行细胞色素P450酶同工酶2C19基因多态性分析,进一步观察维吾尔族和汉族人基因表型和基因频率的差异。 结果与结论：新疆维吾尔族人群强代谢型基因wt/wt,wt/m1 ,wt/m1+wt/m2的总频率明显高于汉族(P < 0.05),而弱代谢型基因m1/m1的总频率明显低于汉族(P < 0.05)。维吾尔族和汉族的wt,m1,m2的等位基因频率差异均有显著性意义(P < 0.05),其中m1等位基因频率为m2的58倍(P < 0.01)。结果显示,中国新疆维吾尔族人群胞色素P450酶同工酶2C19弱代谢型(m1/m1)频率低于汉族,由于m1等位基因频率远高于汉族人群,因此维吾尔族胞色素P450酶同工酶2C19基因突变以m1型为主。 关键词：维吾尔族;汉族;胞色素P450酶同工酶2 C19;基因多态性;多聚酶链反应-限制性片段长度多态性;调查分析     

Paraoxonase 2 gene C311S polymorphism is associated with a risk of large vessel disease stroke in a Polish population

BACKGROUND: Oxidative stress plays a role in atherosclerosis. Human paraoxonase (PON) gene products exhibit antioxidant properties. We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polymorphism of the PON2 gene in different etiologies of ischemic stroke. METHODS: One hundred and thirty-six patients with large vessel disease (LVD) stroke, 140 with small vessel disease stroke, 272 with cardioembolic stroke, and their age- and sex-matched controls were included. PON genotypes were evaluated by PCR-RFLP analyses. RESULTS: The distribution of PON1 polymorphisms was similar in each stroke group and in the respective controls. Genotypes with the C allele of the PON2 gene C311S polymorphism were overrepresented in LVD stroke patients as compared with their controls, both in univariate and multivariate (dominant model: OR = 1.58, 95% CI: 1.006-2.48) analyses. CONCLUSION: The genotype with the C allele of the PON2 gene is a risk factor for LVD stroke in a Polish population.     

Possible association between Cys311Ser polymorphism of paraoxonase 2 gene and late-onset Alzheimer's disease in Chinese

The common polymorphism at codon 311 (C311S) of paraoxonase 2 gene (PON2) was investigated in 165 patients with sporadic late-onset Alzheimer's disease (LOAD) and 174 controls in Chinese. The PON2*C allele frequency was significantly increased in the patients as compared with controls. However, no significant difference was observed after stratification of apolipoprotein E (ApoE) epsilon4 allele. These results suggested that the PON2 polymorphism might be a risk factor for LOAD independent of ApoE epsilon4 status in Chinese.     

Detecting the polymorphism sites of p53 and Fas genes of Han population in Zhejiang province

IN T R O D U C T IO N W ith the developm ent of hum an genom e project (H G P ) all over the w orld, ranks of nucleic acid of hum an genom e com pletely step from processing fram ew ork into com pletive one. R anks of nucleic acid of hum an genom e are co…     

NINJ2 polymorphism is associated with ischemic stroke in Chinese Han population

Recently, a genome-wide association study reported an association between two single nucleotide polymorphisms (SNPs) rs11833579 and rs12425791 near NINJ2 gene and ischemic stroke in Caucasians. Therefore, NINJ2 gene is an important candidate locus in the prevalence of ischemic stroke. We performed a hospital based genetic association study in Chinese Han subjects to investigate the relationship between NINJ2 gene and ischemic stroke. We genotyped 14 tagging single nucleotide polymorphisms (tSNP) in 749 ischemic stroke subjects and 924 control subjects and conducted the association between these tSNPs and ischemic stroke. We detected a tSNP rs10849373 in the first intron of the NINJ2 gene significantly associated with ischemic stroke (both genotype and allelic p=0.0001). The minor A allele increased the risk of ischemic stroke with a per-allele OR of 1.37 for the additive genetic model in univariate analysis (p=0.0001). The significance remained after adjustment for the covariates of age, gender, BMI, cigarette smoking, alcohol drinking, hypertension, and diabetes. Therefore, we report a new genetic variant, rs10849373, located in the first intron of the NINJ2 gene, conferring risk of ischemic stroke in Chinese Han subjects. Further genetic association and functional studies are required to search the causal functional variant in linkage disequilibrium with this polymorphism.