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1.
目的 探讨中国人群中小肠脂肪酸结合蛋白 (FABP2 )基因 Ala5 4 Thr多态性与 2型糖尿病的相关性。方法 采用聚合酶链反应 -寡核苷酸连接测定方法对北京地区 10 2对病例 -对照配偶对进行FABP2基因 Ala5 4 Thr多态性基因型检测。结果 对照组中携带 Thr/ Thr纯合子基因型组血清脂蛋白 a(L pa)水平高于 Ala/ Ala纯合子组 (P<0 .0 5 ) ;Thr5 4 Thr纯合子基因型组患 2型糖尿病的危险性较Ala5 4 Ala纯合子组高 ,但差异无显著性 (Thr/ Thr vs Ala/ Ala,调整 OR=2 .94 ;95 % CI:0 .93~ 9.32 ,P=0 .0 6 7)。结论 在中国汉族人群中 ,FABP2基因 Ala5 4 Thr多态性与血清 L pa水平相关 ,但不是 2型糖尿病的主要致病基因  相似文献   

2.
2型糖尿病血管紧张素转换酶基因与隐性心肌缺血的关系   总被引:2,自引:0,他引:2  
目的 为了探讨2型糖尿病(diabetes mellitus,DM)患者血管紧张素转换酶(angiotensinconverting enzyme,ACE)基因与运动诱发的隐性心肌缺血(exercise- induced silent myocardial ischemia,SI)的关系。方法 选择静息心电图正常的2型DM患者10 8例和5 0名健康人。采用踏车运动试验进行筛选SI。应用PCR技术检测ACE基因。结果 (1)对照组及2型DM组ACE基因型及等位基因频率分布相似(P>0 .0 5 )。与非SI组比较,SI组ACE D等位基因频率明显增高(χ2 =4 .5 0 1,P<0 .0 5 ) ,两组ACE基因型频率分布相似(P>0 .0 5 )。(2 ) 2型DM患者不同ACE基因型组间临床特征及血脂水平相似(P>0 .0 5 )。(3) 2型DM患者DD型SI发生率为6 8.2 % ,明显高于II基因型组的39.5 % (χ2 =4 .5 93,P<0 .0 5 )。结论 ACE D等位基因增高2型DM患者并发SI的危险性。  相似文献   

3.
目的 了解维生素 D受体基因多态性在中国不同民族中的分布。方法 应用聚合酶链反应 -限制性片段长度多态性分析、基因测序等技术检测 6 8名阿昌族人和 92名汉族人的维生素 D受体基因Fok 多态性 ,比较两组维生素 D受体基因型和等位基因的分布频率。结果 在 6 8名阿昌族人中 FF基因型占 18%、Ff基因型占 35 %、ff基因型占 4 7% ,而在 92名汉族人中 FF基因型占 2 2 %、Ff基因型占 5 2 %、ff基因型占 2 6 %。两组维生素 D受体基因型的分布频率差异有显著性 (χ2 =7.716 ,P=0 .0 2 1)。结论 阿昌族与汉族维生素 D受体基因 Fok 多态性分布频率差异有显著性。  相似文献   

4.
目的 探讨依赖还原型辅酶 / 醌氧化还原酶 [NAD(P) H:quinone oxidoreductase,NQO1]c DNA6 0 9位点 C→ T多态性与帕金森病 (Parkinson'sdisease,PD)遗传易感性的关系。方法 用聚合酶链反应 -变性高效液相技术 (polymerase chain reaction- denaturing high performance liquid chromatog-raphy,PCR- DHPL C)分析了 NQO1基因c DNA6 0 9位点C→T多态性在 PD患者与正常对照之间分布频率的差异。结果 PD组和对照组的 TT基因型频率分别为 2 2 .6 %和 11.8% (P=0 .0 0 4 ) ,TT基因型使患 PD的危险度提高 2 .186倍 (P=0 .0 0 5 ) ;根据发病年龄分组后 ,这种差异主要存在于晚发性 PD和对照组之间 ,TT基因型使患 PD的危险度提高 2 .6 2 7倍 (P=0 .0 0 1)。等位基因在总体 PD组、早发 PD组、晚发 PD组和对照组中的频率分布差异无显著性。结论 NQO1基因c DNA6 0 9位点C→T多态性在对照组和PD患者之间的分布差异有显著性 ,突变基因型 (TT基因型 )频率在 PD组中较高 ,研究结果支持 NQO1基因多态性与 PD相关的假说 ,而且与 PD发病年龄有关。  相似文献   

5.
目的 探讨α 共核蛋白基因启动子区微卫星多态与晚发散发性帕金森病 (Parkinson’sdis ease ,PD)发病风险间的关系。方法 采用扩增片段长度多态方法和微卫星荧光标记 半自动基因分型技术 ,对上海汉族 13 5例晚发性散发性PD患者和 170名正常人进行α 共核蛋白基因微卫星多态分析 ,并通过比值比 (oddsratios ,OR)与PD进行相关分析。结果 病例 对照组间各等位基因频率分布差异有显著性( χ2 =14 .73 ,df =7,P =0 .0 4)。PD组 2 69bp等位基因频率最高 ( 0 .3 89) ,对照组中 2 71bp等位基因频率最高 ( 0 .3 5 9)。≤ 2 67bp等位基因与PD呈正关联 (OR =5 .2 2 8,95 %CI :1.2 48~ 2 7.2 0 2 ,χ2 =6.416,P =0 .0 11) ,而 2 73bp等位基因与PD呈负关联 (OR =0 .63 8,95 %CI :0 .44 0~ 0 .92 6,χ2 =5 .64 4,P =0 .0 18) ;病例 对照组间各基因型的分布差异无显著性 ( χ2 =16.3 68,df =12 ,P =0 .175 )。但含有≤ 2 67bp等位基因的基因型可增加PD的发病风险 (OR =4.5 94,95 %CI :0 .94~ 2 2 .49,χ2 =4.2 2 4,P =0 .0 4)。PD组杂合度为 40 % ,对照组为 5 0 %。结论 α 共核蛋白基因启动子区的微卫星多态与晚发性散发性PD的发病风险有关。  相似文献   

6.
凝血因子Ⅴ和Ⅶ基因多态性与冠心病的初步研究   总被引:6,自引:0,他引:6  
目的 观察凝血因子 (coagulation factor ,F )、 (coagulation factor ,F )基因多态性在中国汉族人群中的分布及其与冠心病 (coronary heartdisease,CHD)的关系。方法 应用聚合酶链反应和限制性内切酶片段长度多态性技术检测了 2 34例 CHD患者和 2 10名正常对照者的 F 、F 基因型 ,结合选择性冠状动脉造影结果探讨两者的关系。结果  F 等位基因 R、Q和 H7、H6频率在冠心病组和对照组分别为 94 .6 %、5 .6 %、70 .3%、2 9.7%和 91.9%、8.1%、6 0 .9%、39.1%。基因型频率符合 Hardy-Weinberg平衡定律。R35 3Q和 HVR4基因型频率和等位基因频率在 CHD组和对照组 ,狭窄血管支数之间比较差异均无显著性。 R35 3Q基因型频率和等位基因频率在非心肌梗塞组和心肌梗塞组比较差异有显著性 (χ2 =4 .711,P<0 .0 5 ,OR=0 .37,95 % CI:0 .15~ 0 .94 ) ,而 HVR4基因多态在两组间比较差异无显著性(χ2 =0 .14 2 ,P>0 .0 5 )。冠心病组和对照组均没有发现 F L eiden突变。结论 F R35 3Q基因多态中的 Q等位基因可能是对抗心肌梗塞的保护因子  相似文献   

7.
目的探讨血管紧张素转换酶(ACE)和血管紧张素原(AGT)基因表达、基因多态性与青海孕产妇妊娠高血压疾病的相关性。方法选择210例妊娠高血压患者(HDCP组)和220例正常孕妇(CK组),运用限制性内切酶片段长度多态性聚合酶链反应(PCR-RFLP)方法检测AGT M235T、ACE I/D基因多态性。结果CK组ACE基因DD、ID、Ⅱ所占比例分别为28.18%、47.73%、24.09%,HDCP组分别为33.81%、51.90%、14.29%(P<0.05,故两组的ACE基因分布有差异),HDCP组和对照组ACE I/D多态性等位基因I和D频率分布有差异(P<0.05),HDCP组D等位基因频率高于对照组(χ^2=5.188,P<0.05),ACE基因型分布符合Hardy-Weinberg遗传平衡(χ^2=0.423,df=2,查表χ^2界值表,P>0.05,达到遗传平衡);CK组AGT基因MM、MT、TT所占比例分别为24.09%、43.64%、32.27%,HDCP组分别为15.71%、42.86%、41.43%(P<0.05,故两组的AGT基因分布差异有统计学意义),HDCP组和对照组AGT M235T多态性等位基因M和T频率分布有差异性(P<0.05),HDCP组T等位基因频率高于对照组(χ^2=6.796,P<0.05),AGT基因型分布符合Hardy-Weinberg遗传平衡(χ^2=3.242,df=2,查表χ^2界值表,P>0.05,达到遗传平衡)。结论ACE I/D多态性和AGT M235T多态性与青海省汉族妊娠期高血压疾病有关,D等位基因和T等位基因可能是妊娠高血压疾病的易感基因。  相似文献   

8.
目的 研究血管紧张素转换酶 (angiotensin converting enzyme,ACE)基因 I/ D多态性在人群中的分布特征及其与原发性高血压的关系。方法 应用 PCR方法对 2 966名开滦矿务局职工进行 ACEI/ D基因型检测 ,并分析比较。结果 研究人群中 II、ID、DD基因型分布频率分别为 41.5%、3 8.4%、2 0 .1% ,I、D等位基因分布频率分别为 60 .7%和 3 9.3 %。ACE DD基因型在高血压组 (13 0 8例 )和对照组(1658名 )的频率分别为 18.9%和 2 1.0 % ,差异无显著性 (P>0 .0 5) ,按年龄及性别分层后差异也无显著性(P>0 .0 5)。DD基因型及 D等位基因分布频率有随年龄的增长而下降的趋势 (P<0 .0 0 1)。结论  ACE I/D多态性与原发性高血压无关 ,基因型及等位基因的分布因年龄不同而不同 ,并提示具有 DD基因型特征的人群早期死亡危险的增加  相似文献   

9.
目的 探讨N -乙酰基转移酶 (NAT2 )基因多态性与散发性帕金森病 (Parkinson’sdisease ,PD)的关系。方法 应用自动实时荧光Light-Cycler技术 ,分析 88例PD患者和 112例健康人NAT2 4个位点的基因多态性 ,比较PD患者与对照组间频率差异。结果 早发PD组NAT2 6A等位基因频率与对照组比较有显著性差异 (P <0 .0 5 ) ,使患PD的危险度提高了 2 .0 8倍 (P <0 .0 5 ) ,NAT2 5A和NAT2 7A/B等位基因频率与对照组比较无显著性差异 (P >0 .0 5 ) ;晚发PD组NAT2 4个多态位点各等位基因频率与对照组比较无显著性差异 (P >0 .0 5 ) ;未检测到NAT2 14A等位基因。结论 NAT2 6A等位基因可能主要与早发PD的易感性相关 ,并参与了神经毒素的解毒。  相似文献   

10.
目的 研究脂联素基因单核苷酸多态性(SNP)45(T/G)位点与宁夏汉族人群2型糖尿病之间的关系.方法 100例2型糖尿病患者和101例正常对照者,采用聚合酶链式反应--限制性内切酶长度多态性(PCR-RFLP)技术,对脂联素基因SNP45多态性位点进行基因分型,同时测定代谢参数.结果 2型糖尿病组SNP45位点GG基因型频率和G等位基因频率均高于正常对照组(P<0.05).结论 脂联素基因的SNP45多态性位点与宁夏汉族人群中2型糖尿病相关;GG基因型者具有2型糖尿病高易感性.  相似文献   

11.
To examine the possible involvement of the alpha-1-antichymotrypsin gene (ACT) polymorphism in the manifestation of Alzheimer's disease (AD), we analyzed genotypes of the ACT and apolipoprotein E gene (APOE) among 110 Korean patients with probable AD and 209 nondemented controls. No significant difference was obtained in genotypic (chi(2)=1.98, df=2, P>0.1) and allelic frequencies (chi(2)=1.61, df=1, P>0.1) of ACT between the AD and control groups. No overexpression of the ACT A/A genotype and ACT A allele was found when we analyzed the late-onset AD patients and the early-onset AD patients, separately. Then we stratified the ACT genotypes based on the presence or absence of the APOE epsilon4 allele to evaluate the possible interaction between them. In the APOE epsilon4-negative subjects, although the ACT A allele tended to be overexpressed in the AD group, the differences in the frequencies of the ACT A allele (chi(2)=2.79, df=1, P>0.1) and ACT A/A genotype (chi(2)=0.16, df=1, P>0.1) were not statistically significant. No significant overrepresentations of the ACT A allele (chi(2)=0.02, df=1, P>0.1) and ACT A/A genotype (chi(2)=0.17, df=1, P>0.1) were found in the APOE epsilon4-positive subjects, either. In addition, the status of the ACT genotype did not influence the age-at-onset of AD (F=0.03, df=2, P>0.1). Therefore, the ACT polymorphism does not contribute to the development of AD independently or interactively with the APOE epsilon4 allele in Koreans.  相似文献   

12.
OBJECTIVE: To investigate the association of the polymorphism in manganese superoxide dismutase (Mn-SOD) gene in Chinese type 2 diabetic patients with diabetic retinopathy. METHODS: The Ala(-9)Val polymorphism of the Mn-SOD gene was determined by polymerase chain reaction and direct sequencing in 198 normal control subjects and 264 patients with type 2 diabetes mellitus, among them there were 139 non-diabetic retinopathy (NDR) subjects and 125 subjects with diabetic retinopathy (DR). RESULTS: There was no statistic difference in the frequencies of VV genotype and V allele between the type 2 diabetic group and the control group. However, the frequencies of VV genotype and V allele were significantly higher in the DR group than that in the NDR group (chi-square (2)=5.015, P=0.025?chi-square (2)=10.253, P=0.001),but there was no statistic difference in the NDR group compared with the control group (P > 0.05). The presence of V allele was shown to be associated with diabetic retinopathy (OR=1.96, 95%CI: 1.29-2.97). Furthermore, the subjects carrying the VV genotype had lower serum Mn-SOD level (P=0.025) and had a tendency of higher total serum SOD activity, but this tendency had no statistic significance. CONCLUSION: The Ala(-9)Val polymorphism in the Mn-SOD gene may not be related to the etiology of type 2 diabetes, but it seems to contribute to the development of diabetic retinopathy in Chinese type 2 diabetic patients.  相似文献   

13.
目的 确定parkin基因第3内含子区新的多态位点IVS3-20 T→C多态与帕金森病(Parkinson’s disease,PD)的相关性。尤其是该多态与PD发病年龄的关系。方法 经PCR扩增后。用变性高效液相色谱和DNA自动测序等方法分析了312例PD患者和236名正常对照parkin基因IVS3—20 T→C多态性位点分布频率的差异。结果 总体分析未发现C/C纯合型。PD组T/C基因型频率和C等位基因频率与对照组相比有明显升高,但差异无显著性。将PD组按年龄分层后。45岁以下PD患者IVS3—20 T→C多态T/C基因型频率(7.07%)明显高于正常对照组(2.12%)。OR=3.52,95%CI为0.97~13.13(P=0.0263)。C等位基因频率(3.90%)也明显高于正常对照组(1.06%)。OR=3.42。95%CI为0.96~12.57(P=0.0276).而45岁以上PD组与正常对照组相比差异无显著性。年龄分层后的趋势分析显示parkin基因IVS3-20 T/C多态性相对危险度与PD发病年龄间存在负相关联系.结论 发现了parkin基因IVS3-20 T→C多态位点,并提示IVS3-20 T→C多态位点可能是中国人散发性早发PD的一个危险因素。  相似文献   

14.
Addictive drugs, including ethanol, increase the brain's dopaminergic transmission, and catechol-o-methyltransferase (COMT) enzyme has a crucial role in dopamine inactivation. A common functional polymorphism in the COMT gene results in a three- to four-fold variation in enzyme activity. In a previous study, we found an association between type 1 (with late-onset but without prominent antisocial behavior) alcoholism and the low activity allele of the COMT gene. In this work we analyzed whether the COMT polymorphism has any effect on the development of type 2 (with early-onset and habitual impulsive violent behavior) alcoholism. The COMT genotype was determined in 62 impulsive violent recidivist offenders with early-onset (type 2) alcoholism, 123 late-onset nonviolent (type 1) alcoholics, and 267 race and gender-matched controls. The allele and genotype frequencies of these groups were compared with each other and also with previously published data from 3,140 Finnish blood donors. The type 2 alcoholics did not differ from either the blood donors or the controls. The low activity (L) allele frequency was higher among type 1 alcoholics (chi(2) = 4.98, P = 0.026) when compared with type 2 cases. The odds ratio for type 1 alcoholism as compared with type 2 alcoholism for those subjects with the LL genotype versus the HH genotype was 3.0 (95% confidence interval 1.1-8.4, P = 0.017). The results suggest that COMT genotype has no major role in the development of early-onset alcoholism with severe antisocial behavior.  相似文献   

15.
OBJECTIVE: To study the association of the Pro12Ala and C1431T polymorphism of the PPAR gamma2 gene and their haplotypes with obesity and type 2 diabetes in Chinese population. METHODS: PCR-restriction fragment length polymorphism was used to determine the Pro12Ala and C1431T polymorphisms in 207 patients with type 2 diabetes and 101 non-diabetic control subjects. RESULTS: (1) In non-diabetic control population, the Ala allele frequency was 0.064, the T1431 allele frequency was 0.252. Haplotype analysis showed that the Pro12Ala and C1431T polymorphisms were in linkage disequilibrium (Do=0.63, r(2)=0.074), which constituted three major haplotypes Pro-C, Pro-T and Ala-T. (2) There were no significant differences of the distribution frequencies of the Pro12Ala and C1431T polymorphism and their haplotypes between the type 2 diabetes mellitus group and non-diabetic control group (P > 0.05). (3) The Pro12Ala polymorphism was associated with blood pressure and lipidemia in diabetic patients. The Ala allele significantly decreased the diastolic blood pressure of non-obese diabetic patients (P < 0.05), but it did not benefit to the obese diabetic patients for the lipidemia (P < 0.05). The C1431T polymorphism was associated with overweight and obesity in diabetic patients. The T1431 allele frequency in the body mass index >/= 25 layer was significantly higher than that in the body mass index < 25 layer (P < 0.05). CONCLUSION: The Pro12Ala and C1431T polymorphisms of the PPAR gamma2 gene might not be a major etiological factor for type 2 diabetes; the C1431T polymorphism was associated with overweight or obesity in diabetic patients.  相似文献   

16.
目的:研究血管紧张素Ⅱ的Ⅰ型(AT1R)基因3’-端CA重复序列多态性和A1166→C突变双等位樗是否与藏族原发性高血压(essential hypertension,EH)的遗传易感性关联。方法:以荧光标记dCTP为底物,应用PCR扩增和ABIprism377半自动测序及PCR/RFLP技术,通过病例-对照研究、受累同胞对家系连锁分析,鉴定AT1R基因3’-端CA重复序列多态性和A1166→C点突变与葳族EH的关联。结果:病例-对照研究证明,AT1R基因3’-端CA重复序列多态性与EH相关联,χ^2=26.44,P<0.001,该位点杂合度为0.73,多态信息量为0.71。AT1R基因3’-端CA重复序列存在11种等位基因,A7(138bp)为最常见等位基因,A8等位基因与EH正相关,EH组和对照组中A8等位  相似文献   

17.
血管紧张素原基因M235T分子变异与2型糖尿病肾病的关系   总被引:2,自引:0,他引:2  
目的 探讨血管紧张素原(angiotensinogen , A G T) 基因 M235 T 分子变异与中国人无肾病并发症的2 型糖尿病(diabetes m ellitus , D M) 、2 型糖尿病肾病(diabetic nephropathy , D N) 的关系。方法 用 P C R及 R F L P 方法对84 例 D M、96 例 D N 及98 名正常对照进行了 A G T 基因 M235 T 多态性的检测。结果  D N 组 T 等位基因频率082 , T T 基因型频率070 ,与对照组(063 ,043) 比较有显著差异( P= 0003 , P=00004) ;校正了 D N 的几种危险因素后, T T 基因型对 D N 的 O R 为347(95 % C I 为151 ~794 , P=00033) 。 D M 组基因型频率分布与对照组比较无显著差异( P> 005) 。结论  A G T 基因 T T 型可能是中国人群2 型糖尿病肾病的独立危险因素之一。  相似文献   

18.
Stromal-cell derived factor-1 (SDF-1) is a powerful chemokine that upregulates T-cell migration and activation. The gene for SDF-1 is located near type 1 diabetes susceptibility locus IDDM10, suggesting a contribution by SDF-1 to the induction of diabetes. Recently the role of SDF-1 gene polymorphism in the clinical presentation of type 1 diabetes in French population has been reported. To test the putative involvement of SDF-1 gene polymorphism in predisposition to or clinical heterogeneity of type 1 diabetes in Japanese population, we conducted the case-control study. The SDF1-3'A variant (801 G to A in the 3'-untranslated region) was determined by the polymerase chain reaction-restriction fragment length polymorphism technique in 184 patients with abrupt-onset type 1 diabetes and 106 healthy control subjects. No significant difference in allele and genotype frequencies of SDF1-3'A variant was found between type 1 diabetic patients and healthy controls. However, the SDF1-3'A variant was strongly associated with early-onset diabetes in a recessive model (AA versus AG + GG, p = 0.017). The mean age-at-onset in patients carrying SDF1-3'AA genotype was significantly younger than that in patients with SDF1-3' AG or GG genotype (p = 0.028). The frequencies of SDF1-3' A variant were significantly increased in HLA-DR4/9 patients compared with non-DR4/9 patients (p = 0.008). These results suggest that the SDF-1 gene polymorphism is associated with the age-at-onset of type 1 diabetes in Japanese population.  相似文献   

19.
目的 探讨血管紧张素 转换酶 ( angiotensin - converting enzyme,ACE)基因多态性与糖尿病视网膜病和心肌梗塞之间的关联性。方法 应用 PCR技术 ,对 1型糖尿病 33例视网膜病患者和 36例非视网膜病患者、2型糖尿病 6 8例伴心肌梗塞患者和 5 7例伴视网膜病患者以及 190例无并发症患者的ACE基因插入 /缺失型多态性进行了检测。结果  ACE基因与视网膜病之间无关联。而 2型糖尿病心肌梗塞患者与非心肌梗塞患者比较 ,DD纯合子频率显著增高 ( 4 1.2 % vs 33.2 % ) ,D等位基因频率也显著增高 ,差异有显著性 ( P<0 .0 5 )。结论  D等位基因 (相对风险为 1.5 0 )和 DD基因型 (相对风险为 1.33)可能是 2型糖尿病心肌梗塞发生的风险因子  相似文献   

20.
血管紧张素原基因M235T分子变异与型糖尿病肾病的关系   总被引:5,自引:0,他引:5  
目的 探讨血管紧张素原angiotensinogen,AGT)基因M235T分子变异与中国人无肾病并发症的2型糖尿病(diabetes mellitus,DM)、2型糖尿病肾病(diabetic nephropathy,DN)的关系。方法用PCR及RFLP方法对84例DM、96例DN及98名正常对照进行了AGT基因M235T多态性的检测。结果 DN组T等位基因频率0.82,TT基因型频率0.70  相似文献   

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