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父母MTHFR基因型对后代发生神经管畸形的影响   总被引:9,自引:1,他引:8  
朱慧萍  李竹  刀京晶  赵欣荣  赵如冰 《遗传》2000,22(5):285-287
本研究旨在探讨父母双方MTHFR基因型与其后代发生神经管畸形风险性的关 系。采用成组匹配的病例对照研究方案,用纸片法采集病例和对照外周血标本,用PCR-RFLP方法确定基因型(C677T)。结果显示,分别比较两组父亲或母亲基因型频率时,差别不显著;将父母基因型联合起来分析则发现,病例组父母等位突变基因频率(T)高于对照组父母,提示后代是纯合突变( TT)概率越大,发生NTD的风险性也越大。结论是,父母双方的基因型对后代发生NTD的风险性有同等重要的作用,父母双方传递给胎儿的一对突变等位基因(T/T)是NTD发生的风险因素之一。 Abstract:The effect of parental MTHFR genotypes on fetal phenotype of NTD is studied.It was designed as group matched case-control study.Venous blood cases and controls were collected by dry blood spots.Genotype(C677T)of each sample was decided by PCR-RFLP method.When the genotypes of father and mother are compared separately,no significant difference is discovered between cases and controls.On the other hand,when the mutant allele frequency(T)is computed for father and mother together,it is significantly higher in cases than in controls.Higher probabilities of the offspring being homozygotes(TT),higher the risk for NTD occurrence has been observed.It is concluded that genotypes of MTHFR for both father and mother have the same impact on NTD occurrence of their offspring.It is the pair of mutant allele(T/T)which transmitted to the baby from its parents that increases the risk.  相似文献   
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马晓慧  丛斌  张海燕  董辉  姜松男  朱慧萍 《昆虫学报》2009,52(12):1285-1286
为比较不同赤眼蜂酚氧化酶(PO)活性的大小, 明确赤眼蜂种间免疫防御能力强弱, 本研究通过研磨、离心提取松毛虫赤眼蜂Trichogramma dendrolimi、螟黄赤眼蜂T. chilonis、玉米螟赤眼蜂T. ostriniae匀浆液, 首次测定了几种化学因子(Ca2+、昆布多糖、纤维素、右旋糖酐、脂多糖和丝氨酸蛋白酶抑制剂)对3种供试赤眼蜂匀浆液中酚氧化酶原激活系统(proPO-AS)的激活程度。结果表明: 玉米螟赤眼蜂匀浆液PO活性最高, 螟黄赤眼蜂次之, 松毛虫赤眼蜂最低。Ca2+是激活供试赤眼蜂proPO的必需因子, 且在0.03 mol/L浓度下激活作用最强; 昆布多糖和脂多糖也能有效激活proPO, 0.01及0.05 mg/mL昆布多糖能强烈激活PO活性; 纤维素和右旋糖酐对PO活性存在显著抑制作用。结果证明了赤眼蜂种间存在明显的免疫能力差异。本研究建立了小型昆虫proPO-AS研究体系, 为研究Wolbachia-小型昆虫的免疫互作体系奠定了基础。  相似文献   
3.
中国人MTHFR基因多态性与神经管畸形遗传易感性   总被引:15,自引:3,他引:12  
朱慧萍  李竹 《遗传》2000,22(4):236-238
目的:应用分子生物学方法进行遗传流行病学研究, 探讨MTHFR基因多态性在神经管畸形的遗传易感性中的作用。方法:应用PCR?RFLP方法检测MTHFR热敏感性基因型;对18个NTD核心家庭进行以父母为对照的病例对照研究,计算TDT和HHRR;另外对31例NTD胎儿和62例正常成年人进行的成组病例对照研究,计算MTHFR纯合突变对NTD的比值比。结果:核心家庭分析结果:比值比OR=3.2,95%CI=1.120~11.169;TDT(χ2)=5.762,P<0.05,HHRR(成组χ2)=6.727,P<0.05;胎儿MTHFR纯合突变对NTD的相对危险度OR=3?21,P<0?05。结论:研究结果说明,突变等位基因在神经管畸形核心家庭中存在突变基因(T)的遗传失衡现象,胎儿MTHFR基因第677位核苷酸的多态性是中国人NTD遗传易感性因素之一。 Abstract:The objective of the study is to clarify the effect of MTHFR thermolabile polymorphism on genetic susceptibility of NTD in Chinese population.MTHFR genotypes were detected using PCR-RFLP analysis; 18 NTD nuclear families were analysed as case-parental control study,from which Transmitted Disequillibrium Test(TDT) and Haplotype-based Haplotype Relative Risk (HHRR) were calculated; 31 NTD fetuses and 62 adult controls were analysed for calculation of OR of homozygotic MTHFR.The results are as follow:Nuclear family analysis: OR=3.2( 95%CI=1.120~11.169);TDT(paired χ2)=5.762,P<0.05,HHRR(χ2)=6.727,P<0.05;homozygotic MTHFR of fetus vs adult control: OR=3.21,P<0.05. The 677th allele of MTHFR is abnormally transmitted in NTD nuclear families.Homozygotic MTHFR of the fetus may be a genetic factor of NTD in China.  相似文献   
4.
给小鼠腹腔注入AM F 能抑制巨噬细胞的移动,并且能影响瘤苗的免疫效果,由原来70% 的保护率下降至33.3% (P< 0.01)。而NDV 等病毒能降低AM F 的抑制作用,由30% 的存活率上升为60% ~70% (P< 0.01)。当抗病毒抗体存在时,又失去了病毒拮抗AM F的抑制作用,由60% ~70% 的存活率下降为20% ~30% 存活率  相似文献   
5.
中国汉蒙两族人群MTHFR基因热敏感性多态性分布的比较   总被引:7,自引:0,他引:7  
为比较中国蒙汉两族人群MTHFR基因第677位核苷酸多态性的分布情况,获得该位点多态性的群体遗传学数据,本研究应用PCR扩增技术, 其扩增产物用限制性核酸内切酶Hinf I消化后进行非变性聚丙烯酰胺凝胶电泳,分析蒙汉族人群中MTHFR基因第677位核苷酸基因型(野生型、杂合型和突变纯合型)的分布频率。结果表明,蒙族人群基因型构成以野生型为主,占45.6%,突变杂合型占39.2%,突变纯合型仅占15.2%,汉族人群基因型构成以突变杂合型为主,占55.7%,野生型仅占17.9%,突变纯合型占26.4%,明显高于蒙族人群。经χ2检验,两组基因型构成比具有显著性差异(P<0.001);蒙族人群MTHFR 677T等位基因频率为34.8%,经u检验显著低于汉族人群(54.2%)的频率。据此认为,中国蒙族人群MTHFR热敏感性基因突变频率显著低于汉族人群,提示该基因多态性分布在中国不同民族人群中存在差异。 Abstract:The purpose of this study is to compare the genetic polymorphism distribution of the 677th nucleotide of MTHFR between the Mongolian population and the Hans of China,and to obtain the population genetic data of this polymorphism.Using PCR-RFLP method,the authors analyzed the genotypes of the 677th nucleotide of MTHFR in Mongolians and Hans.Results show that in Mongolian population,the proportion of wild type is 45.6%,proportion of heterozygotes is 39.2% and that of homozygotes is 15.2%; While in Hans,proportions are wild type 17.9%,heterozygotes 55.7% and homozygotes 26.4%.The ratios of genotypes are significantly different between Mongolian and Han populations(χ2-test,P<0.001).The 677th allele frequency in Mongolians is 34.8%,lower than that in Hans(54.2%,u-test,P<0.001).This suggests that the mutant MTHFR gene frequency is significantly higher in the Han population than in the Mongolian population in China.  相似文献   
6.
5,10亚甲基四氢叶酸还原酶(MTHFR)是叶酸代谢的关键酶.为了试验肌肉介导外源基因人MTHFR(hMTHFR)制备抗体和建立MTHFR免疫检测的可能性,构建了MTHFR基因真核表达载体(pcDNA3/MTHFR);通过基因缝线法将携带pcDNA3/MTHFR的质粒,缝合于预先注射再生剂(丁哌卡因)的肌肉内.2个月后分离血清,所得抗体应用Westernblot,ELISA和胎肝免疫组织化学染色进行免疫鉴定.胎肝免疫组织化学显示,在肝小梁细胞浆中具有大量MTHFR阳性反应颗粒;Westernblot有MTHFR抗体与其抗原特异的褐色条带,分子量约为37kD;ELISA分析表明,3种不同浓度的抗体与不同剂量的抗原反应具有剂效关系,最适抗体滴度(ED50)为1∶400。以上结果说明肌肉介导外源基因是获得抗体的一种简单、快捷的方法.该抗体可用于MTHFR的免疫检测和有关的叶酸代谢研究工作.  相似文献   
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