纤溶酶原激活物抑制物-1基因4G/5G基因型分布频率与心肌梗死和脑梗死相关性初步分析

目的研究我国汉族人纤溶酶原激活物抑制物-1基因启动子区-675位4G/5G(单鸟嘌呤核苷酸插入/缺失)基因多态性与心肌梗死和脑梗死的等位基因特异性的相关性.方法以等位基因特异性聚合酶链反应(AS-PCR)扩增56例心肌梗死患者,54例脑梗死患者,83例无关健康对照个体的基因组DNA,鉴定PAl-1 4G/5G基因型及分布频率,常规方法检验研究个体的主要临床和生化指标.结果PAI-1基因启动子区4G/5G基因多态性在心肌梗死,脑梗死患者组中的分布频率与对照组明显不同.在心肌梗死组中,4G/4G基因型分布频率(71.40%)比对照组(30.12%)显著增加(P＜0.001),杂合型4G/5G基因型分布频率(25.00%)比对照组(62.65%)明显降低;而在脑梗死组中,4G/4G,4G/5G基因型分布频率(分别为20.37%,55.56%)均比对照组(分别为30.12%,62.65%)低,5G/5G基因型明显增加(24.07%vs7.32%,P＜0.001).而且心梗组中血浆PAI-1活性水平随着4G等位基因的减少而降低;脑梗死组中,血浆PAI-1活性水平随着5G等位基因的升高而增加.心肌梗死、脑梗死患者组中的血浆PAI-1活性水平,甘油三酯水平和血糖水平都比对照组明显升高(分别为P＜0.001,P＜0.05,P＜0.001).结论本研究表明,中国汉族人PAI-1基因启动子区4G/5G基因多态性可能和心肌梗死、脑梗死发生的危险性相关,4G/5G基因多态性可能是一种重要的遗传性血栓性疾病的危险因子.     

载脂蛋白E多态性与脑梗死及脂类代谢关系的研究

目的:探讨载脂蛋白E(ApoE)多态性与脑梗死及脂类代谢的关系。方法:缺血性脑梗死组110例,健康对照组60例。ApoE表型采用等电聚焦(IEF)电泳及免疫印迹(Westernblotting)技术测定,血清总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)采用酶法测定,低密度脂蛋白胆固醇(LDL-C)按Fridwald公式计算,ApoAⅠ、ApoB用火箭电泳法测定,ApoE、脂蛋白(a)用ELISA法测定。结果:脑梗死组ApoEε4等位基因表达显著高于对照组(P＜0.05);脑梗死组TC、TG、LDL-C、ApoB、ApoE、Lp(a)水平显著高于对照组(P＜0.05或P＜0.01),ApoAⅠ、HDL-C显著低于对照组(P＜0.05);脑梗死组各等位基因(ε2、ε3、ε4)之间血脂水平比较;含ε4等位基因者,TC、LDL-C、ApoB、Lp(a)水平高于含ε3者(P＜0.05),HDL-C、ApoAⅠ较低(P＜0.05);含ε2等位基因者,TG、HDL-C、ApoAⅠ、ApoE高于含ε3者(P＜0.05),TC、LDL-C、ApoB较低(P＜0.05)。结论:ApoEε4等位基因与脑梗死发病有关,ε2、ε4等位基因与脑硬死患者的脂类代谢改变有关。     

RELN 基因启动子区甲基化及其多态性改变与精神分裂症的相关性研究进展

精神分裂症的发病机制至今尚未明确。研究表明,精神分裂症的发生、发展与大脑神经系统功能异常相关。RELN编码的Reelin可通过分子信号通路调节神经元的正确定位和突触的可塑性参与精神分裂症的发生、发展。本文综述了RELN基因和Reelin蛋白的结构及在神经系统中的作用以及RELN基因与精神分裂症的关系,以期为深入研究精神分裂症的发病机制及临床治疗提供更多思路。     

Rolandic癫痫的遗传病学研究进展

Rolandic癫痫(RE)又称儿童良性癫痫伴中央颞区棘波(BECTS),是最常见的儿童特发性癫痫综合征.既往认为,RE预后通常良好,常在青春期以前自行缓解.1982年,Aicardi和Chevrie提出RE变异型(ARE)的概念,指部分RE患儿起病初期的临床及电生理表现符合RE的特点,但在病程的演变过程中,临床和脑电...     

谷子种子经高空气球搭载后的遗传变异研究

目的 选育出高产、蛋白质和用脂肪含量高的谷子品（系）种。方法 利用高空气球搭载谷子的干种子,在高空飘游８ｈ后回收种植,对其植物学特性及进行分析研究。结果 种子发芽率比对照低５．２％,发芽热比对照高２１．１％。ＳＰ１代植株高度比对照低６．８ｃｍ,旗叶面积比对照高２５％,穗重比对照高１５．９％;ＳＰ３代大穗型株系性状相对稳定,其中ＳＰ３－２的种子蛋白质和脂肪含量均高于对照经高空气球搭载后的ＳＰＥ－３５     

Association of RANTES G-403A gene polymorphism with increased risk of coronary arteriosclerosis

Aims Polymorphisms in the RANTES (G-403A), monocyte chemoattractantprotein-1 (MCP-1; A-2518G), stromal cell-derived factor-1ß(SDF-1ß; G801A), and C–C chemokine receptor-5(CCR5; 32) genes have been associated with functional effects.These chemokines have been implicated in leucocyte recruitmentto arterial lesions. In a case-control study, we explored relationsbetween these polymorphisms and coronary artery disease (CAD),with respect to angiographic abnormalities and acute coronarysyndromes (ACS). Methods and Results The LUdwigshafen Risk and Cardiovascularhealth (LURIC) cohort was genotyped by RFLP-PCR. Based on coronaryangiography, individuals were sub-divided into CAD cases and controls . RANTES-403 genotype frequencies were significantly different in cases and controls, as were A allele carrier frequencies (36.01% vs. 30.19%, OR=1.30 [95%-CI=1.06–1.60], ). By multivariate analysis, RANTES A-403 retained significantassociation with CAD . RANTES A-403 was associated with increased ACS prevalence (OR=1.36 [95%-CI=1.08–1.71],). MCP-1 G-2518, SDF-1ß A801, and CCR5 32 were not associated with CAD. Conclusions RANTES A-403 was associated with CAD independentlyfrom conventional risk factors and CRP or fibrinogen as inflammatorybiomarkers. The association was enhanced in smokers and ACS,conditions where platelet activation and inflammation predominate.RANTES A-403 may increase genetic susceptibility to CAD.     

No Association Between the Dopamine D2 Receptor Taq I A1 Allele and Earlier Age of Onset of Alcohol Dependence According to Different Specified Criteria

BACKGROUND: The presence of the A1 allele of the dopamine D2 receptor TaqI restriction fragment length polymorphism has been reported to be associated with an earlier age of onset of alcohol dependence as a marker for severity. METHODS: We tested this hypothesis with special regard to the definition of the age of onset of alcoholism in 243 patients with alcohol dependence, according to DSM-IV criteria assessed by the standardized interview Münchner Composite International Diagnostic Interview (M-CIDI), consecutively admitted for detoxification. Additionally, the Addiction Severity Index (ASI) was performed. The TaqIA polymorphism was amplified by polymerase chain reaction (PCR), and the PCR product was digested by the restriction enzyme TaqI. Patients were subsequently divided into an A1 (presence of at least one A1 allele, n = 88) and an A2 group (absence of an A1 allele, n = 155). The following criteria for different definitions of age of onset were used: (1) age of onset of the first occurring symptom necessary for the diagnosis of alcohol dependence according to M-CIDI; (2) age of onset of the last symptom of alcohol dependence according to M-CIDI; (3) age of onset of more than 3 drinking days per week on a regular basis according to ASI; (4) age of onset of more than 3 drinking days-of more than five drinks per drinking day-or at least one binge drinking episode per week on a regular basis according to ASI. RESULTS: The frequency of the A1 allele in our patient sample was 0.208. No statistically significant association between the A1 allele and the age of onset of alcoholism was found. The mean age of onset according to criterion 1 was 30.4 +/- 10.8 years for the A1 group and 30.2 +/- 10.2 years for the A2 group (p = 0.89); for criterion 2, it was 33.3 +/- 10.0 years for the A1 group and 33.9 +/- 10.2 years for the A2 group (p = 0.77); for criterion 3, it was 18.0 +/- 7.5 years for the A1 group and 18.1 +/- 6.1 years for the A2 group (p = 0.92); and for criterion 4, it was 22.3 +/- 9.7 years for the A1 group and 21.8 +/- 8.5 years for the A2 group (p = 0.76). CONCLUSIONS: No association was found between the A1 polymorphism and age at onset of alcohol dependence according to different specified criteria.     

糖皮质激素受体遗传多态性与2型糖尿病相关性研究

目的 探讨糖皮质激素受体(GR)单核苷酸多态性与2型糖尿病(T2MD)易感性及人体体型的相关性.方法 采用病例-对照研究设计,从解放军总医院健康体检中心的体检患者中,募集40例T2MD患者和127例对照.结合三种不同的SNP位点选择方法,采用上海天昊生物科技有限公司的iMLDRTM多重SNP分型技术对入选SNP位点进行基因分型.采用非条件Logistic回归,校正年龄、性别、吸烟、饮酒后,分析基因型与T2MD易感性的关系.得到的阳性位点,进一步采用协方差分析,校正年龄、性别、吸烟、饮酒后,评价其与体重指数(BMI)和腰臀比(WHR)的相关性.结果 共选取14个SNP位点,其中rs10052957突变型在病例组中频率为零,故未纳入统计分析.所有的13个SNP位点在病例和对照组中的基因分型均符合Hardy-Weinberg平衡.rs9324924 TT基因型(OR [95％CI]=3.12[1.06 ～9.17],P=0.039)和rs9324921 AA基因型(OR [95％CI]=14.92[1.39～160.60],P=0.026)发生T2DM的风险较野生型增高,且两基因型的BMI[P=0.023 (rs9324924);P=0.002(rs9324921)]、WHR[P=0.033 (rs9324924);P=0.003(rs9324921)]也较野生型明显增高.结论 在本研究中,GR基因rs9324924、rs9324921与T2DM易感性和体型有关,其中纯和突变型T2DM发病风险明显增加,且更具有肥胖倾向.     

Orientia tsutsugamushi,agent of scrub typhus,displays a single metapopulation with maintenance of ancestral haplotypes throughout continental South East Asia

Orientia tsutsugamushi is the causative agent of scrub typhus, a major cause of febrile illness in rural area of Asia–Pacific region. A multi-locus sequence typing (MLST) analysis was performed on strains isolated from human patients from 3 countries in Southeast Asia: Cambodia, Vietnam and Thailand. The phylogeny of the 56-kDa protein encoding gene was analyzed on the same strains and showed a structured topology with genetically distinct clusters. MLST analysis did not lead to the same conclusion. DNA polymorphism and phylogeny of individual gene loci indicated a significant level of recombination and genetic diversity whereas the ST distribution indicated the presence of isolated patches. No correlation was found with the geographic origin. This work suggests that weak divergence in core genome and ancestral haplotypes are maintained by permanent recombination in mites while the 56-kDa protein gene is diverging in higher speed due to selection by the mammalian immune system.