GDF5基因rs224331多态性与汉族青少年体格发育指标关联分析

目的探讨中国汉族青少年GDF5基因rs224331位点多态性与身高、体重和BMI的相关性。方法采集江苏省某技校1790名17～22岁青少年的身高、体重指标并计算BMI。采用Taqman探针real-timePCR方法检测GDF5基因rs224331位点的单核苷酸多态性,并分析该基因位点与男女生身高、体重和BMI的相关性。结果 97.9%（1754/1790名）基因分型成功,男生859名,女生895名。rs224331位点频率最高的基因型为AA（51.7%）,其次为AC（39.6%）,CC最少（8.7%）。rs224331的基因型分布与男生、女生的身高无显著关联（P分别为0.728和0.723）;rs224331不同基因型间的男生体重和BMI差异均有统计学意义（P均〈0.01）,男生AC基因型体重和BMI均显著高于AA基因型（P=0.002）,女生中未发现类似的相关性（P分别为0.713和0.921）。结论 GDF5基因rs224331位点多态性在本研究的汉族人群中与身高无明显关联,提示该多态性位点可能存在种族特异性。rs224331位点多态性与男生体重和BMI存在相关性。     

ATM基因rs227060位点单核苷酸多态性与肺癌易感性的相关性

目的:探讨共济失调毛细血管扩张症突变基因(ataxia telangiectasia mutated,ATM)rs227060位点单核苷酸多态性(single nucleotide polymorphisms,SNPs)与肺癌易感性之间的相关性.方法:采用聚合酶链反应-SNP敏感性分子开关方法,检测225例肺癌患者和128例健康体检者ATM基因rs227060多态位点等位基因以及基因型频率分布特点;并应用非条件Logistic回归法统计分析rs227060单核苷酸多态性与肺癌的相关性.结果:rs227060多态位点共检测出CC,CT,TT三种基因型和C,T两种等位基因,其在肺癌组与对照组的基因型分布频率为:CC基因型17.3％与29.7％、CT基因型61,4％与59.3％、TT基因型21.3％与11％,两组间基因型频率和等位基因频率分布差异均有统计学意义(P＜0.05).在对ATM rs227060基因型的多态性分析过程中发现:吸烟史在肺癌组与对照组相比差异无统计学意义(P＞0.05),而年龄、性别、肿瘤家族史在肺癌组与对照组相比差异均有统计学意义(P＜0.05);且以CC基因型作为对照,携带TT基因型的个体患肺癌的风险是携带CT基因型个体的3.49倍(OR=1.829;95％CI:1.045～3.199).结论:ATM基因rs227060位点单核苷酸多态性与肺癌易感性存在相关性,且携带TT基因型可增加肺癌的发病风险.     

基质金属蛋白酶-3基因多态性与脑卒中亚型的相关性

目的 探讨中国北方汉族人群基质金属蛋白酶-3(matrix metalloproteinase-3,MMP-3)基因多态性与缺血性脑卒中(ischemic stroke,IS)亚型的相关性.方法 应用病例对照研究,选取289例急性缺血性脑卒中患者(发病≤3d)和175名同期健康体检者.卒中组按急性卒中治疗低分子肝素试验病因分型法分为大动脉粥样硬化性(large artery atherosclerotic,LAA)脑卒中185例,小动脉闭塞性(small artery occlusion,SAO)脑卒中104例.选取MMP-3基因rs3025058(-11715A/6A),rs522616(-709A/G)及rs679620(133A/G)3个常见单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点,应用聚合酶链反应限制性片段长度多态性或直接测序法对MMP-3基因3个SNP位点进行基因分型.结果 3个位点存在不完全连锁不平衡,且基因多态性均与LAA型脑卒中相关(P＜0.05).在显性模型中,rs3025058位点5A5A+5A6A基因型携带者患LAA型脑卒中的风险是6A6A基因型携带者的1.72倍(P=0.017,OR=1.72,95％CI:1.10～2.69);rs522616位点GG+ AG基因型携带者患LAA型脑卒中的风险是AA基因型携带者的0.52倍(P=0.005,OR=0.52,95％CI:0.33～0.82);rs679620位点AA+ GA基因型携带者患LAA型脑卒中的风险是AA基因型携带者的1.55倍(P=0.042,OR=1.55,95％CI:1.01～2.37).但是,3个SNPs基因型和等位基因频率在对照组与SAO型脑卒中之间差异无统计学意义(P＞0.05).另外,LAA组5A-A-A及6A-A-A单倍型高于对照组,差异有统计学意义(P＜0.05),而6A-G-G单倍型显著低于对照组(P＜0.01).结论 MMP-3血清水平在LAA型脑卒中急性期增高明显,SAO型脑卒中次之;中国北方汉族人群MMP-3基因rs3025058,rs522616及rs679620多态性可能与LAA型脑卒中易感性相关.     

云南汉族ATP2B1基因标签SNPs与原发性高血压的关系

目的探讨Ⅰ型细胞膜钙离子转运酶(ATP2B1)基因标签单核苷酸多态(SNPs)与云南汉族原发性高血压(EH)的相关性。方法用聚合酶链式反应-限制性片段长度多态性方法,检测1020例云南汉族人(EH组和对照组各510例)ATP2B1基因12个标签SNPs(rs10506974、rs10506975、rs2854371、rs957525、rs3741895、rs2681472、rs2070759、rs12423192、rs1050395、rs11105357、rs11105358和rs7975689)和ATP2B1基因附近区域的rs17249754位点的多态性。结果 rs17249754位点基因型和等位基因频率在EH组和对照组间的分布均具有显著性差异(P0.01),Logistic回归分析发现,rs17249754位点AA基因型和A等位基因使EH患病风险显著性降低(OR=0.60,95%CI 0.40~0.89,校正P0.05;OR=0.73,95%CI 0.60~0.88,校正P0.01)。结论 ATP2B1基因附近区域rs17249754位点与云南汉族人群EH相关,rs17249754 A等位基因可能是降低云南汉族EH风险的保护因子。     

SH2B3基因标签单核苷酸多态性与汉族原发性高血压的关系

目的探讨SH2B衔接蛋白3(SH2B3)基因标签单核苷酸多态(SNPs)与汉族原发性高血压(EH)的关系。方法用聚合酶链式反应-限制性片段长度多态性方法(PCR-RFLP),对1 020例汉族人(EH患者和对照者各510例)SH2B3基因6个标签SNPs(rs7309325、rs11065898、rs10849947、rs2239196、rs2238154和rs739496)的多态性进行检测,运用遗传模型分析该基因与汉族EH的相关性。结果 rs2239196位点基因型和等位基因在EH组和对照组间的频率分布均具有显著性差异(Bonfferoni校正P0.05),Logistic回归分析结果显示T等位基因携带者的患病风险显著升高(OR=2.59,95%CI 1.36~4.96,Bonfferoni校正P0.05)。结论 SH2B3基因rs2239196位点T等位基因可能是汉族EH发生的危险因子。     

SUMO4基因多态性与冠心病及2型糖尿病合并冠心病的关系

目的 探讨北京地区汉族人群小泛素样修饰蛋白4 (small ubiquitin-like modifier 4,SUMO4)基因多态性与冠状动脉粥样硬化性心脏病(coronary artery disease,CAD)及2型糖尿病(type 2 diabetes mellitus,T2DM)合并CAD的关系.方法 采用病例对照设计,入选369例单纯CAD患者(CAD组)、189例2型糖尿病合并CAD患者(T2DM+ CAD组)及500名健康个体(对照组).应用聚合酶链反应-高分辨熔解曲线技术结合测序验证法,检测SUMO4基因rs237025、rs237024及rs600739 3个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点的基因型与等位基因在3组间的分布,并通过分层分析比较SNPs不同基因型携带者的临床相关危险因素的差异.结果 3个SNPs的等位基因和基因型在3组间的分布差异无统计学意义(P＞0.05);通过分层分析,在T2DM+CAD组发现rs237025各基因型携带者的甘油三酯水平、rs600739各基因型携带者的体重指数水平的差异有统计学意义(P值分别为0.020和0.049),但组间多重比较仅发现rs237025的GG基因型携带者较GA及AA基因型携带者具有更高的甘油三酯水平(P＜0.01).结论 SUMO4基因多态性可能与北京地区汉族人群伴或不伴T2DM的CAD易感性无关.     

HTRA1基因单核苷酸多态性与类风湿性关节炎的关联性研究

目的 探讨HTRA1基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)和类风湿性关节炎(rheumatoid arthritis,RA)及其患者血清类风湿因子(rheumatoid factor,RF)、C反应蛋白((C-reactive protein, CRP)之间的相关性.方法 采用Snapshot法测定344例RA患者和288名正常健康人HTRA1基因5个SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)位点基因型,终点散射比浊法测定RA患者血清RF和CRP水平.结果 RA组HTRA1基因SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)基因型与正常对照组间差异均无统计学意义(P>0.05),单倍型分析也显示H豫A1基因RA组与正常对照组间差异无统计学意义(P>0.05),RA患者HTRA1基闪SNPs位点(rs2014307、rs2248799、rs714816、rs2268356)不同基因型之间血清RF水平比较差异无统计学意义(P>0.05),而rs2300433位点基因型(AA+AG)组的RF水平明显高于GG组((P<0.05).结论 已分析的与HTRA1基因相关的5个SNPs与中国汉族人种RA遗传易感性不相关,HTRA1基因rs2300433位点不同基因型RA患者体内RF水平有差别,HTRA1基因表达的丝氨酸蛋白酶可能参与了RA患者RF的表达.     

CSPG2和HSPG2基因单核苷酸多态性与中国汉族人颅内动脉瘤的相关性研究

目的 分析CSPG2和HSPG2基因单核苷酸多态性(single nucleotide polymorphism,SNP)与中国汉族散发颅内动脉瘤的相关性.方法 采用病例-对照关联研究方法,收集颅内动脉瘤患者537例以及年龄和性别匹配的正常对照1071名的外周血样各5 mL并提取基因DNA.通过聚合酶链式反应扩增目的DNA,用单碱基延伸(SNaPshot)法进行SNP分型.选取文献报道的CSPG2和HSPG2基因的两个标签SNPs位点rs251124和rs3767137,分析其与汉族散发颅内动脉瘤发病的关联性.结果 CSPG2和HSPG2基因的两个标签SNPs位点rs251124和rs3767137的基因型均满足Hardy-Weinberg平衡.CSPG2rs251124的等位基因频率在患者组与对照组之间差异无统计学意义(P=0.22);HSPG2 rs3767137的等位基因频率在两组之间亦差异无统计学意义(P=0.26),但其相应的OR值大于1(OR=1.12;95％CI=0.92～1.37).患者组与对照组rs251124、rs3767137的基因型频率均差异无统计学意义(P=0.46,0.53).结论 未发现CSPG2和HSPG2基因rs251124、rs3767137 SNPs与中国人颅内动脉瘤发病的相关性.     

CDKAL1基因rs4712523多态性与内蒙古地区汉族人群2型糖尿病相关

目的 研究内蒙古地区汉族人群CDKAL1基因rs4712523单核苷酸多态性(SNP)的等位基因和基因型频率分布与2型糖尿病(T2DM)的相关性.方法 采用等位基因特异性聚合酶链式反应(AS-PCR),对382例内蒙古地区汉族人(其中T2DM组192例,对照组190例)rs4712523进行基因分型.结果 T2DM组中rs4712523的G等位基因频率和GG基因型频率分别为47.4％和6.3％,均显著高于对照组的35.3％和3.2％(P＜0.05).G等位基因携带者患T2DM的风险是A等位基因的1.654倍(OR=1.654,95％ CI=1.237-2.212).结论 CDKAL1基因rs4712523多态性位点的G等位基因可能是内蒙古地区汉族人T2 DM的易感基因之一.     

广东汉族女性TRIM31基因单核苷酸多态性与乳腺癌易感性的相关性研究

目的:探讨TRIM31(Tripartite motif containing 31)基因rs1116221位点单核苷酸多态性(Single nucleotide poly-morphisms,SNP)与广东汉族女性乳腺癌易感性的关系。方法:利用MassARRAY-IPLEX SNP分型技术,对南方医科大学南方医院的216例广东汉族乳腺癌患者及216例同期健康体检者TRIM31基因的多态性位点rs1116221进行基因分型,采用χ2检验方法统计分析病例组与对照组的基因型分布频率的差异,采用非条件Logistic回归计算比数比(Odds ratio,OR)和95%可信区间(Confidence interval,CI)对该位点多态性与乳腺癌易感性的相关性进行评价。在此基础上,在病例组中根据临床雌激素受体(Estrogen receptor,ER)和孕激素受体(Progesterone receptor,PR)的免疫组化结果进一步分层分析。结果:TRIM31基因位点rs1116221在广东汉族女性中存在CC、CT、TT 3种多态性,病例-对照分析显示,该位点基因型分布频率在两组中无统计学差异(P>0.05);进一步分层分析发现,该位点的基因型分布在ER阳性/阴性(+/-)分组中存在差异,且具有统计学意义(P=0.034),携带杂合基因型CT的个体更倾向于ER(+)乳腺癌(OR=2.67,95%CI:1.02～7.02);而在PR阳性/阴性(+/-)分组中无统计学差异。结论:基因TRIM31的rs1116221位点多态性与乳腺癌患病风险之间无明显相关性,但该位点的杂合基因型与乳腺癌ER阳性(+)明显相关。     

Level of functioning of siblings and parents of probands of varying degrees of retardation

A further analysis of already published data supports the position that retardates of low ability level less frequently have retarded siblings, retarded parents, and parents low in occupational level than do retardates higher in ability level. The analysis supports the position that there are two types of retarded individuals, persons retarded as a result of gene or chromosomal anomalies, brain injury, etc., who more frequently occur in the lower-level retardate group, and persons whose retardation represents polygenic segregation, who more frequently occur in the higher-level group.     

局部注射辛伐他汀对骨质疏松大鼠股骨髁骨小梁的改建效应

背景：局部注射具有成骨作用的辛伐他汀,可显著增加骨质疏松大鼠股骨颈及股骨髁部的骨密度及力学强度,分析局部注射辛伐他汀对股骨髁骨小梁的影响。 目的：进一步研究骨质疏松大鼠股骨内局部注射辛伐他汀对股骨髁骨小梁的影响。为将辛伐他汀应用于临床骨质疏松局部治疗提供实验基础。 方法：18只雌性SD大鼠双侧卵巢切除后3个月,制备大鼠骨质疏松模型。实验大鼠随机数字表法均分为3组,分别在实验大鼠的右侧股骨髓腔内单次注射辛伐他汀溶液5 mg、10 mg,对照组单纯注射空白载体。分别在注射后1个月处死大鼠并取材。Micro-CT扫描并定量分析骨组织形态变化。 结果与结论：给药后1个月,Micro-CT扫描结果显示,辛伐他汀治疗组的骨微结构参数如骨皮质厚度、骨小梁密度及连接率明显优于对照组。说明疏松骨骼单次注射小剂量辛伐他汀可显著促进股骨髁部骨小梁改建,改善骨骼微结构,可为强化局部、防治骨质疏松骨折的新选择进一步提供实验基础。     

石斛属民族药用植物的分类及生药学研究

中药石斛早在《神农本草经》中就被列为上品,其应用历史悠久,具有养阴生津、补肾益气、润喉护嗓、活血明目、抗癌防老等功效。本文对国内外石斛属民族药用植物的分类及生药学研究进行了综述。     

膝关节骨性关节炎的关节镜治疗体会

目的我科自2001～2005年4月对59例67膝的骨性关节炎（0A），进行关节镜检查及镜下清理术。方法镜检：膝关节骨性关节炎伴不同程度滑膜炎，滑膜皱壁粘连纤维片，关节软骨不同程度破坏。镜下清除增生滑膜，松解粘连，去除剥脱软骨、修复关节面。结果随访2月～4年，平均1.5年，术后综合评估2月～1年，优良率94％；1～2年，优良率79.2％；2年以上优良率54.8％。结论关节镜对膝关节骨性关节炎诊断能提供了比较全面的资料，并对骨性关节炎早期有良好疗效，具有创伤小、恢复快、并发症少和重复治疗等优点。     

Assessment of the efficacy of treatment of hemangiomas

Assessment of the aftereffects of cryoexposure and ultrahigh-frequency cryoexposure on hemangioma tissue of various types, cavernous and squamous, showed a higher cryogenic effect in hemangiomatous tissue preexposed to ultrahigh-frequency waves. A quantitative criterion is proposed for assessing the efficacy of the studied methods of exposure. Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 119, N ^o 6, pp. 669–672, June, 1995     

Pathways of the realization of immunomodulating effects of neurotransmitters

Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 115, N ^o 4, pp. 401–404, April, 1993     

Anatomical study of distribution of valves of the cutaneous veins of adult''s limbs

Since the cutaneous veins of the four limbs have been used as autogenous grafts in the treatment of cardiovascular disorders, knowledge of distribution of the valves is increasingly required depending upon the use. In the gross anatomical study of distribution of valves of the trunci venae, there has been argument about locational relationships between the venous roots and the valves in the vicinity of the roots and the inter-valvular distance. However, there have been only few reports discussing detailed information about valves of the cutaneous veins of the four limbs. The authors observed patterns of distribution of the cutaneous venous valves of the four limbs of cadavers prepared for practice in anatomy. The following parts were excised from each cadaver: the cephalic, basilic, and the great saphenous veins, which originate from the acral venous network and flow into the proximal deep veins, and the venous roots communicating with these veins. An incision was made on each excised vein in the direction of the long axis under observation with a stereoscopic microscope, and the inter-valvular distance and the distance between the valve and the orifice of venous root in the vicinity of the valve were measured. The inter-valvular distance varied with type of the truncus venae, and it varied according to area even in the same truncus venae.     

Characterization of sterols of three digenetic trematodes of buffalo

Sterols of three digenetic trematodes were isolated and characterized by infrared and 1H nuclear magnetic resonance spectroscopies, and gas-liquid chromatography and gas chromatography-mass spectrometry. Sterols identified were cholesterol, cholestanol, 24-methylcholesterol, 24-methylcholestanol, 24-ethyl-22-dehydrocholesterol, 24-ethyl-22-dehydrocholestanol, 24-ethylcholesterol and 24-ethylcholestanol.     

Mechanisms of generation of slow components of bioelectric activity in diagnostics of functional state of the gastrointestinal tract

New electrophysiologic devices were used for the diagnostics of the state of excitable structures in the gastrointestinal tract and correction of their motor functions. Bioelectrical and biomechanical activities form the basis of functioning of internal organs. The mechanisms of generation of slow bioelectrical activity that are important for clinical and physiological studies are described. One of these mechanisms is a capacitance parametric transducer converting the energy of contractions into specific electric signals reflecting muscle functions. Another mechanism results from slow oscillations of resting potentials of interrelated excitable cells in large neuromuscular structures of internal organs. The elaborated procedure is efficient for preventing early postoperative paresis of the gastrointestinal tract. Translated fromByulleten' Eksperimental'noi Biologii i Meditsiny, Vol. 128, No. 10, pp. 448–452, October, 1999     

胃小弯侧血管弓的MDCT解剖

目的：研究正常胃小弯侧血管弓及其属支血管的多排螺旋CT表现。方法：回顾性分析51例正常成人的上腹部CT资料,观察胃小弯侧血管弓及其属支血管的显示情况、血管弓形态及其与胃壁的关系。结果：51例均显示胃小弯侧血管弓,血管弓贲门部属支、胃体部属支和幽门部属支分别显示46例、15例和10例;血管弓与胃壁紧邻41例。结论：MDCT检查可良好显示正常胃小弯侧血管弓及其属支血管。