|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Plasma Homocysteine and Gene Polymorphisms Associated with the Risk of Hyperlipidemia in Northern Chinese Subjects显示文摘Objective To examine the relationship between occurrence of hyperlipidemia, plasma homocysteine and polymorphisms of methylenetetra hydrofolate reductase (MTHFR) gene and methionine synthase (MS) gene. Methods A total of 192 hyperlipidemia patients were selected and divided into hypercholesterolemia group, hypertriglyceridemia group, and combined hyperlipidemia group. Another 208 normal individuals were selected as control. Total plasma homocysteine (tHcy) concentration was measured by high-performance liquid chromatography (HPLC). Lipid profiles were measured for all subjects. The polymorphisms of MTHFR gene C677T and MS gene A2756G were analyzed by PCR-RFLP. Results The tHcy concentration in the combined hyperlipidemia patients was significantly higher than that in the control (15.95 μmol/L vs 13.43 μmol/L, P<0.05). The prevalence of hyperhomocysteinemia (HHcy) in the combined hyperlipidemia group was significantly higher than that in the control (42.2% vs 23.0%, P=0.015), with the odds ratio (OR) of 3.339 (95%CI: 1.260-8.849). The hyperlipidemia patients with HHcy had a higher concentration of total cholesterol (TC) than that in the normal tHcy patients (5.67±0.95 mmol/L vs 5.47±0.92 mmol/L, P=0.034). There was no significant difference in genotype or allele frequencies of MTHFR C677T between the hyperlipidemic and control groups. The hyperlipidemia patients with MTHFR CT/TT genotype had a higher concentration of triglyceride (TG) than those with CC genotype (2.24±1.75 mmol/L vs 1.87±0.95 mmol/L, P<0.05). Individuals with CT/TT genotype had a higher concentration of tHcy than those with 677CC genotype both in the hyperlipidemia group (12.61±1.24 μmol/L vs 11.20±1.37 μmol/L, P<0.05) and in the control group (14.04±1.48 μmol/L vs 12.61±1.24 μmol/L, P<0.05). The percentage of MS 2756 GG/AG genotype in the combined hyperlipidemia group was significantly higher than that in the control (26.7% vs 13.0%, P=0.012), with the OR of 3.121 (95%CI: 1.288-7.651). The hyperlipidemia patients with MS 2756AG/GG genotype had a higher concentration of TC (5.87± 0.89 mmol/L vs 5.46±0.93 mmol/L, P<0.05) and LDL-C (3.29±0.81 mmol/L vs 2.94±0.85 mmol/L, P<0.05) than those with AA genotype. However, individuals with 2756AG/GG genotype showed no significant difference in tHcy among those with AA genotype. Conclusion HHcy and MS A2756G mutation may be the risk factors for combined hyperlipidemia. Further study is needed to confirm the role of HHcy and MS A2756G mutation in the development of hyperlipidemia. | LEI HUANG XIAO-MING SONG WEN-LI ZHU YONG LI | 2008 | Biomedical and Environmental Sciences2008，21，6： | 14 |
| 2 | CBS基因变异与血清同型半胱氨酸水平及先天性心脏病的关系研究显示文摘目的探讨核心家庭胱硫脒β-合酶(CBS)基因变异与子代发生先天性心脏病(CHDs)的关系。方法选择辽宁省234名CHDs患者(男116人,女118人)及其生物学父母作为病例组;选取同地区无出生缺陷病史及家族史的136名正常人(男78人,女58人)及其生物学父母作为对照组。所有研究对象均采集血样,提取血凝块DNA,分别以PCR和PCR-ARMS方法检测CBS基因844ins68和G919A位点基因型;对部分家庭的母亲和子代以荧光免疫偏振法检测血清tHcy水平。结果各组人群CBS基因844ins68和G919A位点基因型分布已达到Hardy-Weinberg遗传平衡。CBS 844ins68位点分析表明,与纯合野生型(DD)相比,母亲、父亲、子代杂合子(DI)的比值比[ORs(95%CI)]值分别为14.19(2.21,591.52)、4.37(1.24,23.47)和4.77(1.38,25.37)。CBS基因G919A位点分析表明,与GG基因型相比,杂合子GA和纯合子AA的ORs(95%CI)值分别为0.45(0.23,0.87)和0.34(0.11,1.01);母亲GA、父亲GA和AA基因型携带者其子代罹患先心病的危险性均明显降低,ORs(95%CI)值分别为0.44(0.23,0.84)、0.54(0.29,1.00)和0.24(0.08,0.71)。基因型联合分析表明,与无危险等位基因的基因型组合(0组)相比,母亲、父亲、子代携带2个危险等位基因者(组2)的ORs(95%CI)值分别为4.32(1.07,20.66)、3.43(0.88,13.71)和8.62(1.69,82.72),且均有统计学意义。不同组别血清tHcy水平比较表明,病理组与对照组tHcy水平无明显差异,CBS不同基因型间tHcy水平差异亦无显著性(P>0.05)。结论CBS基因844ins68位点杂合子(DI)以及G919A位点突变等位基因(A)与先心病高危险性有关,但对血清tHcy水平无明显影响。 | 朱文丽 宋晓明 李孟忆 刀京晶 李书琴 李勇 | 2008 | 卫生研究2008，37，4： | 12 |
| 3 | 血清同型半胱氨酸及叶酸水平与先天性心脏病的关系显示文摘目的了解先天性心脏病(CHD)患者及其父母血清同型半胱氨酸(Hcy)及叶酸水平与CHD发生的关系。方法以核心家庭为基础的病例对照设计,在辽宁省选择CHD患者151人及其生物学父母作为病例组,另选取同地区无出生缺陷病史及家族史的98名正常人及其生物学父母作为相应对照。采用荧光免疫偏振法检测部分子代及其母亲的血清总Hcy(tHcy)水平,放射免疫法测定全部对象血清叶酸和维生素B12(VB12)水平。结果CHD患者及其母亲血清tHcy水平与对照组相比无明显差异;两组血清叶酸水平及叶酸缺乏率(<7nmolL)差异亦无显著性;与对照组相比,CHD患者血清VB12水平明显较高(315.36pmolL和185.34pmolL,P<0.05),VB12缺乏率(<150pmolL)明显较低,CHD组父亲血清VB12缺乏率也低于相应对照。分类型分析显示室间隔缺损患者血清tHcy水平明显低于对照组,而VB12水平明显高于对照;动脉导管未闭组父母血清叶酸水平均高于相应对照(P<0.05)。相关性分析表明亲代叶酸、VB12水平与子代呈明显正相关;病例组母亲tHcy水平与子代tHcy正相关,子代tHcy与叶酸水平负相关;对照组子代tHcy与VB12水平负相关(P<0.05)。结论叶酸及VB12是影响血清Hcy水平的重要因素,呈明显负相关;本研究尚不能得出叶酸及Hcy与CHD相关的结论,有待进一步研究。 | 朱文丽 刀京晶 成君 李书琴 李勇 | 2005 | 卫生研究2005，34，6： | 12 |
| 4 | 冠心病并高同型半胱氨酸血症患者甲硫氨酸合成酶基因突变的研究显示文摘目的:研究中国人冠心病并高同型半胱氨酸血症患者甲硫氨酸合成酶(MS)基因突变的情况。方法:应用聚合酶链反应-单链构象多态性分析(PCR-SSCP)以及DNA测序技术,检测60例患者MS基因中与结构和功能密切相关的10个外显子的点突变情况。结果:除已知的31外显子区3个SNP位点比较常见外,还发现了1个新的点突变,3 869位为A/G杂合子(A→G的错义突变可使1 195位氨基酸由异亮氨酸变为缬氨酸),此患者的血浆同型半胱氨酸血水平明显高于正常,为30.93μmol.L-1。此外发现32内含子1个新的G/T多态性。结论:MS某种基因突变可能是影响MS酶功能及高同型半胱氨酸血症的原因之一。 | 许海燕 张书星 陈在嘉 刘海波 姜玉新 陈敬洲 | 2008 | 东南大学学报(医学版)2008，27，1： | 11 |
| 5 | Relationship Between Polymorphism of Cystathionine beta Synthase Gene and Congenital Heart Disease in Chinese Nuclear Families显示文摘To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD). Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method. Results The frequencies of three genotypes (w/w, w/m, and m/m) in control group were 27.2%, 58.4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67.9% in patients and 55.7% in controls. CHD parents' genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD. | XIAO-MING SONG XIAO-YING ZHENG WEN-LI ZHU LEI HUANG YONG LI | 2006 | Biomedical and Environmental Sciences2006，19，6： | 7 |
| 6 | 宁夏回族高脂血症患者CYP2C9*3、MSA2756G基因多态性的研究显示文摘目的研究高脂血症治疗的药物相关基因CYP2C9*3、甲硫氨酸合成酶(MSA2756G)在宁夏回族高脂血症患者中的分布及其与高脂血症的关系。方法通过扩增引进限制性酶切位点(ACRS)和应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术对高脂血症患者进行基因型分析。结果 180名宁夏回族高脂血症患者中,CYP2C9*3等位基因频率为3.33%,突变频率男性(3.05%)高于女性(0.28%),差异有显著性(P<0.01),而与健康对照组(3.00%)比较,差异无显著性(P>0.05);MSA2756G等位基因频率为15.83%,显著高于健康对照组(10.25%)(P<0.05),未发现性别差异。结论宁夏回族人群携带CYP2C9*3基因型的男性患高脂血症风险更大;MSA2756G可能是高脂血症的危险因子。 | 李居怡 金晶 高鹏 杜娟 王健 | 2010 | 西安交通大学学报(医学版)2010，31，5： | 3 |
| 7 | 单纯性先天性心脏病致病基因及环境因素的研究进展显示文摘先天性心脏病(congenital heart disease,CHD)是在人胚胎发育时期(怀孕初期2-3个月内),由于心脏及大血管的形成障碍而引起的局部解剖结构异常,或出生后应自动关闭的通道未能闭合(在胎儿属正常)的心脏,称为先天性心脏病。根据WHO的最新统计资料,世界上每年大约有150万新生儿出生时患有心脏病。 | 于坤坤 刘毅 李栋 马衍辉 | 2014 | 中国实验诊断学2014，18，11： | 2 |
| 8 | 视黄酸对心脏发育影响的机制显示文摘 | 李卫新 王军波 | 2005 | 中国生育健康杂志2005，16，3： | 1 |
| 9 | 父母胱硫醚β合酶基因多态性对后代发生先天性心脏病的影响显示文摘背景与目的:探讨父母胱硫醚β合酶基因(Cystathioninebetasynthase,CBS)多态性对后代发生先天性心脏病(Congenitalheartdisease,CHD)的影响。材料与方法:根据辽宁省出生缺陷登记卡选择127名CHD患者及其生物学父母作为病例组。在同一地区选取129名正常人及其生物学父母作为对照组。采用PCR_RFLP方法检测CBSG919A位点的基因多态性。结果:病例组和对照组父母基因型分布和等位基因频率差异具有统计学意义。与野生基因型携带者相比较,突变杂合和突变纯合基因型携带者的子代罹患CHD的OR值为0.46(95%CI:0.31~0.69)。按照不同类型CHD进行进一步分析发现,在房间隔缺损患者的母亲、室间隔缺损患者的母亲、父亲以及其它类型CHD患者的母亲和父亲组中,基因型的分布在病例组和对照组中的差异具有统计学意义。传递不平衡分析未能发现在CHD核心家庭中存在突变位点的传递不平衡现象。结论:父母CBS基因G919A位点的突变可能能够降低后代发生CHD的危险。 | 宋晓明 朱文丽 刀京晶 李勇 | 2005 | 癌变.畸变.突变2005，17，6： | 1 |
| 10 | 同型半胱氨酸代谢酶基因与心脏发育关系的研究进展显示文摘脊椎动物体内同型半胱氨酸(homocysteine,Hcy)的产生有两条必经途径:复甲基化形成蛋氨酸,转硫基与丝氨酸缩合生成胱硫醚。血清Hcy浓度主要由这两条代谢途径中的三个关键酶[亚甲基四氢叶酸还原酶(MTHFR)、胱硫醚β合成酶(CBS)、蛋氨酸合成酶(MS)]参与决定。在中国北方人口中MTHFR、CBS、MS突变体等位基因出现的频率依次是51.18%、7.58%、2.36%, | 王晓琼 仇小强 | 2010 | 广东医学2010，31，17： | 1 |
| 11 | 叶酸代谢相关酶基因多态性与先天性心脏病显示文摘先天性心脏病(congenital heart disease,CHD)指胎儿在宫内发生心脏或大血管结构异常,所造成的心血管畸形^[1],是先天畸形中最常见的一种。CHD根据血流动力学变化可分为三类:(1)无分流型(无青紫型):即心脏左右两侧或动静脉之间无异常通路和分流,不产生紫绀,包括主动脉缩窄、肺动脉瓣狭窄及主动脉瓣狭窄等。 | 王本敬 陈瑛 | 2012 | 中华儿科杂志2012，50，8： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员