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

背景与目的：探讨父母胱硫醚β合酶基因（Cystathionine beta synthase,CBS）多态性对后代发生先天性心脏病（Congenital heart disease,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CBS G919A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冈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、父亲以及其它类利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核心家庭巾存在突变化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．     

育龄妇女DMT1基因多态性与缺铁性贫血关系

目的 探讨二价金属离子转运蛋白1（DMT1）的基因变异与缺铁性贫血的关系。方法 收集北京大学第三医院非孕18～45岁缺铁性贫血（IDA）女性患者82人作为病例组，选取北京市顺义区和河北省廓坊市94名同龄健康育龄妇女作为正常对照，应用聚合酶联反应-限制性酶切片段长度多态性（PCR—RFLP）技术，分析DMT1基因的IVS4＋44位点多态性。结果 本研究人群中存在DMT1基因的IVS4＋44位点杂合突变（＋／-）和纯合突变（＋／＋）基因型。对照组（＋／-）基因型和（＋）等位基因的频率分别为28．7％和14．4％；IDA组（＋／＋）、（＋／-）基因型和（＋）等位基因的频率分别为2．4％。19．5％，12．2％。与对照组相比。基因型构成差异无统计学意义。（＋／-）＆（＋／＋）基因型患IDA的比值比（OR）为0．70，95％CI：0．35～1．39；IDA组及对照组不同基因型血清铁蛋白（SF）、血红蛋白（Hb）水平差异均无统计学意义。结论 DMT1基因的IVS4＋44位点变异与IDA的发生无明显关联。     

蛋氨酸合酶基因A275 6G位点多态性与非综合征型唇腭裂的关联性研究

Objective To study the association of the A2756G polymorphism of the methionine synthase (MS) gene with nonsyndromie cleft lip with or without cleft palate (NSCL/P) in Chinese. Methods Ninety-seven NSCL/P case-parent triads were selected as the case group. One hundred and four healthy subjects and their biological parents were selected as control group. For all subjects the A2756G polymorphism of the MS gene was examined by PCR-RFLP method. Results There was no statistical difference in genotype and allele frequencies for MS A2756G variants among family members between case group and control group. The GG genotype was not detected in the offsprings and mothers. The odds ratio and confidence interval of genotype AG in offspring, father and mother were 1.78(0.74-4.34), 0.80(0. 36-1.79) and 1.26(0. 54-2.93) respectively. The odds ratio and confidence interval of allele G in offspring, father and mother were 1.70(0.78-3.73), 0. 88(0. 49-1. 75) , and 1.23(0.59-2.60) respectively. The G allele did not increase the risk of NSCL/P. Transmission disequilibrium test (TDT) analysis yielded no evidence of linkage disequilibrium (χ2=0.034,P>0. 05). The results of haplotype-based haplotype relative risk (HHRR) analysis (χ2=0.03,P>0.05) and family-based association tests (FBAT) (Z=0. 186, P> 0.05) failed to show association between the MS A2756G variant and the risk of NSCL/P. Conclusion The A2756G polymorphism of the MS gene was not associated with NSCL/P in Chinese in the present study.     

蛋氨酸合酶基因A275 6G位点多态性与非综合征型唇腭裂的关联性研究

Objective To study the association of the A2756G polymorphism of the methionine synthase (MS) gene with nonsyndromie cleft lip with or without cleft palate (NSCL/P) in Chinese. Methods Ninety-seven NSCL/P case-parent triads were selected as the case group. One hundred and four healthy subjects and their biological parents were selected as control group. For all subjects the A2756G polymorphism of the MS gene was examined by PCR-RFLP method. Results There was no statistical difference in genotype and allele frequencies for MS A2756G variants among family members between case group and control group. The GG genotype was not detected in the offsprings and mothers. The odds ratio and confidence interval of genotype AG in offspring, father and mother were 1.78(0.74-4.34), 0.80(0. 36-1.79) and 1.26(0. 54-2.93) respectively. The odds ratio and confidence interval of allele G in offspring, father and mother were 1.70(0.78-3.73), 0. 88(0. 49-1. 75) , and 1.23(0.59-2.60) respectively. The G allele did not increase the risk of NSCL/P. Transmission disequilibrium test (TDT) analysis yielded no evidence of linkage disequilibrium (χ2=0.034,P>0. 05). The results of haplotype-based haplotype relative risk (HHRR) analysis (χ2=0.03,P>0.05) and family-based association tests (FBAT) (Z=0. 186, P> 0.05) failed to show association between the MS A2756G variant and the risk of NSCL/P. Conclusion The A2756G polymorphism of the MS gene was not associated with NSCL/P in Chinese in the present study.     

喜炎平辅助治疗小儿手足口病普通病例的疗效观察

目的评价喜炎平注射液辅助治疗小儿手足口病普通病例的疗效。方法 100例普通手足口病患儿随机分为治疗组和对照组各50例,对照组给予病毒唑含片及对症治疗,治疗组在对照组基础上加用喜炎平注射液5~10 mg/(kg.d)分2次肌注,观察比较2组疗效。结果治疗组和对照组有效率分别为60%和90%,2组比较有显著性差异(2=10.45,P<0.05),病情发展(出现发热,精神差,哭闹,易激惹等需住院观察)人数治疗组为5例,对照组为20例,2组比较有显著性差异(P<0.01)。结论喜炎平注射液治疗小儿手足口病普通病例疗效好,相对安全。     

热毒平治疗小儿手足口病的疗效观察

目的观察热毒平治疗小儿手足口病(HFMD)的临床疗效。方法将200例HFMD患儿随机分为观察组和对照组,每组各100例。所有患儿均采用综合治疗,对照组口服利巴韦林颗粒,观察组予以热毒平治疗。观察两组有效率及症状、体征改善时间。结果观察组的显效率、总有效率均优于对照组(P<0.05),观察组总病程、退热时间、手足皮疹及口腔溃疡消失时间及胃纳改善时间均短于对照组,均有显著性差异(P<0.05),两组均未见明显不良反应。结论热毒平治疗小儿手足口病疗程短、见效快,有明显疗效,且无明显毒副作用,值得临床推广应用。     

北京市城区中老年人群脂蛋白脂酶基因变异与肥胖代谢综合征的关系

目的了解脂蛋白脂酶 (L PL)基因 Pvu 位点多态性与肥胖代谢综合征的关系。方法对北京市西城区 2 11例超重 (BMI≥ 2 5 )和 93例体重正常的中老年人 (33～ 78岁 )进行 L PL- Pvu 位点多态性分析、体格检查及血生化指标检测。结果超重组与体重正常组 L PL- Pvu 位点基因型构成差异无显著性意义。L PL- Pvu 位点 (- /- )基因型携带者腰臀比低于 ( / )基因型 ,HDL- C水平高于 ( / )型 ,舒张压水平高于 ( /- )基因型 (P<0 .0 5 )。多因素分析显示腰臀比在 ( / )、( /- )和 (- /- )三种基因型间递减。结论 L PL基因 Pvu 位点 (- /- )基因型与腰臀比降低及 HDL- C水平升高有关 ,是肥胖代谢综合征的保护因素。     

聚维酮碘联合湿润烧伤膏治疗Ⅲ度放射性皮炎的疗效观察

目的观察聚维酮碘联合湿润烧伤膏治疗Ⅲ度放射性皮炎的疗效。方法将40例鼻咽癌Ⅲ度放射性皮炎患者按随机数字表分为观察组与对照组各20例。观察组采用聚维酮碘联合湿润烧伤膏治疗,对照组采用湿润烧伤膏治疗。观察两组患者创面愈合时间和疗效。结果两组创面愈合时间及治疗效果比较,差异有统计学意义(P0.01,P0.05)。结论聚维酮碘联合湿润烧伤膏治疗Ⅲ度放射性皮炎疗效优于单纯采用湿润烧伤膏。     

父母亚甲基四氢叶酸脱氢酶基因型对后代发生先天性心脏病的影响

目的　探讨父母亚甲基四氢叶酸 (CMTHFD)基因型对后代发生先天性心脏病 (CHD)的影响。　方法　选择辽宁省 192例CHD患者的父母作为病例组 ,同一地区年龄、性别匹配的 12 4名正常人的父母作为对照组 ,采用PCR RFLP方法检测其MTHFDG195 8A位点基因多态性 ,比较 2组的基因型频率和等位基因频率 ,并计算 2组父母生育纯合突变后代的概率的比值。　结果　CHD父母基因型频率和等位基因频率与对照组相比差异无显著性 (P >0 0 5 ) ;房间隔缺损母亲突变等位基因频率为 10 87% ,明显低于对照组 2 8 15 % (P <0 0 5 ) ,OR =0 31(95 %CI:0 0 9～ 0 84 ) ;房间隔缺损患者父母至少携带一个突变等位基因的比例为 4 3 4 8% ,亦明显低于对照组 6 9 6 4 % (P <0 0 5 ) ,OR =0 34(95 %CI:0 12～ 0 92 ) ;病例组和对照组父母可能生育的纯合突变胎儿占总胎儿数的比例分别为 5 17%和 7 0 4 % ,差异无显著性 (P >0 0 5 )。　结论　亲代 (尤其是母亲 )MTHFDG195 8A位点基因突变可降低后代房间隔缺损的危险性。