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。     

维吾尔族、汉族散发性乳腺癌BRCA1基因rs16941及rs16942位点多态性分析

目的探讨维吾尔族及汉族散发性乳腺癌BRCA1基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)是否存在差异,并分析SNPs位点与肿瘤易感性的关系。方法选取100例散发性乳腺癌(维吾尔族、汉族各50例)及100例乳腺腺病(维吾尔族、汉族各50例)作为分析对象,对BRCA1基因rs16941及rs16942进行DNA测序。结果 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组之间的分布差异有统计学意义(P=0.009,P=0.017)。肿瘤易感性比较:维吾尔族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.964,95%CI:0.260~3.583,P=0.009);维吾尔族rs16942位点中AG与AA基因型相比,其能够增加乳腺癌的发病风险(OR=1.017,95%CI:0.293~3.916,P=0.017)。汉族rs16941位点中AG与AA基因型相比,其能够降低乳腺癌的发病风险(OR=0.824,95%CI:0.210~3.234,P=0.044)。结论 rs16941及rs16942的AA、AG、GG基因型在维吾尔族、汉族乳腺癌组的分布,差异有统计学意义;SNPs与肿瘤易感性有相关性。     

eNOS 基因标签单核苷酸多态性与新疆汉族原发性高血压的相关性研究

目的: 探讨内皮型一氧化氮合酶( eNOS )基因标签单核苷酸多态性(tSNP)(rs2070744、rs1800779、rs1799983、rs3918188和rs7830)与新疆汉族原发性高血压(EH)的相关性,阐明连锁不平衡(LD)模式和单体型分布特征。方法: 采取整群抽取随机抽样的方法,选取新疆沙湾县汉族346名EH患者(EH组)与385名健康者(NT组)为研究对象,进行流行病学调查和临床检查,并采集血样。运用单碱基延伸分型(SNaPshot)技术检测 eNOS 基因标签单核苷酸多态性,确定基因型。结果: (1) eNOS 基因rs3918188位点等位基因C、A在EH组和对照组中分布频率分别为485(70.1%)、207(29.9%)和497(64.5%)、273(35.5%),EH组C等位基因频率高于对照组 (P<0.05),C等位基因患病风险为A等位基因1.287倍(95%CI 1.033-1.603,P<0.05)。rs7830位点基因型CC、AC、AA在EH组及正常对照组中的分布频率分别为126(36.4%)、185(53.5%)、35(10.1%)和145(37.7%)、173(44.9%)、67(17.4%),EH组和正常对照组基因型频率分布有显著差异(χ²=9.721,P<0.01)。其它tSNP位点基因型及等位基因频率分布在EH组和对照组间无显著差异(P>0.05)。(2)除rs1800779和rs2070744位点间存在强连锁不平衡外;其它位点间不存在强连锁不平衡;单体型TAGAC在EH组和对照组中分布频率分别为183 (26.45％)和248 (32.21％),EH组低于对照组(P＜0.05);单体型TAGCC在EH组和对照组中分布频率分别为179(25.87％)和141(18.31％),EH组高于对照组(P＜0.01)。结论: eNOS rs3918188C等位基因可能是新疆汉族EH的易感因素,rs7830位点多态性可能与新疆汉族EH相关,其它tSNP可能与该民族EH不相关;除rs1800779和rs2070744位点间存在强连锁不平衡外,其它tSNP位点间不存在强连锁不平衡;tSNP构成的单体型可能与新疆汉族EH相关。     

CAT、CYBA及NIK基因与慢性阻塞性肺疾病及相关肺动脉高压易感性的关系

目的:探讨细胞色素b-245α多肽(CYBA)、过氧化氢酶(CAT)及核因子κB诱导激酶(NIK)基因单核苷酸多态性与宁夏地区汉族慢性阻塞性肺疾病(COPD)及相关肺动脉高压(PH)发病易感性的关系。方法:取稳定期COPD患者250例(包括COPD相关PH组103例和COPD非PH组147例)及同期健康对照组127例全血,用飞行质谱法检测CYBA基因rs1049255和rs9932581、CAT基因rs1001179和rs7943316及NIK基因rs7222094位点的基因型及等位基因频率。结论:(1)rs1001179位点基因型及等位基因频率分布在健康组和COPD组间差异有统计学显著性(P0. 05):与C等位基因相比,携带T等位基因的优势比(OR)=0. 21,95%置信区间(CI)为0. 10~0. 48。(2)rs1049255位点基因型与等位基因频率在COPD相关PH及COPD非PH组间差异有统计学显著性(P0. 05):与GG基因型相比,携带AA基因型的OR=2. 50,95%CI为1. 15~5. 46;与G等位基因相比,携带A等位基因的OR=1. 45,95%CI为1. 00~2. 08。(3)rs7222094位点等位基因频率在COPD相关PH及COPD非PH组间差异有统计学显著性(P0. 05):与C等位基因相比,携带T等位基因的OR=0. 31,95%CI为0. 21~4. 96。结论:CAT基因rs1001179位点T等位基因可能是COPD的保护因子,可降低COPD的发病风险。CYBA基因rs1049255位点GG基因型和G等位基因及NIK基因rs7222094位点T等位基因可能是COPD相关PH的保护因子,可降低COPD相关PH的发病风险。     

中国北方汉族人群VANGL1、FZD3和FZD6基因交互作用与神经管缺陷的关系

目的探讨VANGL1、FZD3和FZD6基因单核苷酸多态性(SNPs)位点间的交互作用对中国北方汉族人群神经管缺陷(NTDs)患病风险的影响。方法选取VANGL1基因2个SNPs(rs4 839 469和rs34 059 106),FZD3基因2个SNPs(rs2 241 802和rs28 639 533)以及FZD6基因3个SNPs(rs827 528、rs3 808 553和rs12 549 394),采用PCR扩增和测序的方法对135例NTDs患者和135例正常对照者进行基因分型,使用多因子降维法软件(MDR)分析基因-基因交互作用。结果 VANGL1基因rs4 839 469位点基因型分布在病例组与对照组之间有差异(P0.05),FZD6基因rs3 808 553位点基因型分布在病例组与对照组之间有差异(P0.05);MDR分析结果显示VANGL1、FZD3和FZD6基因交互作用存在于两位点模型(rs4 839 469-rs3 808 553)(OR=3.18,95%CI:1.85~5.44;χ2=18.39,P0.0001),3位点模型(rs4 839 469-rs2 241 802-rs3 808 553)(OR=4.17,95%CI:2.43~7.14;χ2=28.5,P0.0001)以及4位点模型(rs4 839 469-rs2 241 802-rs827 528-rs3 808 553)(OR=7.34,95%CI:3.98~13.54;χ2=45.3,P0.0001)。结论 VANGL1、FZD3和FZD6基因存在交互作用,并可能增加NTDs的发病风险。     

TBX21基因rs16947078位点的多态性与哮喘易感性的研究

目的研究TBX21基因的rs16947078位点的多态性与哮喘易感性的关系。方法应用基质辅助激光解吸附电离飞行时间质谱(MALDI-TOF-MS)平台及MassARRAY-IPLEX技术,分别对重庆地区汉族人群中199名正常对照组和223名哮喘患者组的TBX21基因rs16947078位点进行检测并分析其基因型及等位基因分布情况,研究TBX21基因rs16947078位点的多态性与哮喘易感性间的关系。结果 TBX21基因rs16947078位点基因型和等位基因在病例组与对照组间均存在显著差异,P值分别为0.010和0.011;对年龄和性别进行校正后,相对于AA基因型,AG基因型的人群患哮喘的风险增加(OR=9.433,95%CI:1.170~76.022);等位基因G的携带者患哮喘的风险也有所增加(OR=9.232,95%CI:1.152~74.006)。结论研究结果提示TBX21基因中rs16947078位点与哮喘的易感性相关。     

云南地区汉族人群PSMB8、PSMB9及TAP2基因多态性与类风湿关节炎的关联研究

目的 研究云南汉族人群中PSMB8、PSMB9及TAP2基因多态性与类风湿关节炎(rheumatoid arthritis,RA)的相关性.方法 应用聚合酶链反应-限制性片段长度多态性法对177例RA患者及288名健康对照PSMB8基因的rs2071543、rs55745125、rs138635403位点和PSMB9基因的rs17587多态性位点进行基因分型,应用多聚酶链反应扩增阻碍系统法对TAP2基因的rs2228396多态性位点进行基因分型.计算基因型及等位基因频率.采用Epi Info 7软件计算上述多态位点在RA组及正常对照组之间的比值比(OR值).结果 rs138635403及rs17587位点的等位基因及基因型频率在RA组和对照组间差异有统计学意义(P＜0.05),其中RA组rs17587的GG基因型频率(0.672)高于对照组(0.524)(OR=1.862,95％CI:1.261～2.749).结论 云南汉族人群PSMB9基因的rs17587位点多态性与RA存在关联.     

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.     

血管内皮细胞功能相关基因多态性与子痫前期的遗传易感性研究

目的探讨血管内皮细胞功能相关基因即内皮型一氧化氮合成酶(eNOS/NOS3)、血管内皮生长因子(VEGF)、胰岛素样生长因子(IGF1)基因的单核苷酸多态性(SNP)与子痫前期(PE)发病的相关性。方法选取2014年7月至2015年5月于南方医科大学附属深圳妇幼保健院分娩的汉族妇女442例,采用SNapshot技术对eNOS、VEGF、IGF基因5个位点进行检测,分析两组间基因型及等位基因频率的差异。结果 (1)深圳地区汉族妇女中暂未发现存在IGF1基因rs5742620位点、NOS3基因27bp-VNTR in intron 4位点的多态性。(2)PE组NOS3基因rs2070744位点AA基因型、A等位基因频率明显低于对照组(95.5%vs99.3%,P=0.007,OR=0.14,95%CI为0.03-0.73;97.4%vs99.7%,P=0.003,OR=0.13,95%CI为0.028-0.632)。(3)PE与对照组比较,NOS3基因rs1799983位点GG、GT、TT基因型及等位基因分布无显著差异;VEGF基因rs3025039位点GG、AG、AA基因型及等位基因分布无显著差异。结论 (1)NOS3基因rs2070744位点可能与深圳地区汉族妇女PE发生有关。(2)NOS3基因rs2070744位点AA基因型、A等位基因可能是本群体PE发病的保护因素。(3)IGF1基因rs5742620位点、NOS3基因27bp-VNTR in intron 4位点为本群体的罕见突变。     

GATA5基因启动子序列单核苷酸多态性可增加急性心肌梗死的易感性

目的:通过病例-对照研究,探讨GATA结合蛋白5(GATA binding protein 5,GATA5)基因启动子序列单核苷酸多态性(single nucleotide polymorphism,SNP)与急性心肌梗死(acute myocardial infarction,AMI)的相关性。方法:通过χ~2检验、logistic回归、单倍型分析、细胞转染及电泳迁移率变动分析(electrophoretic mobility shift assay,EMSA)对SNPs进行遗传及功能分析。结果:校正混杂因素后,rs80197101位点GA和GA+AA基因型与AMI显著相关(OR=2.280,95%CI:1.027~5.061,P=0.043;OR=2.312,95%CI:1.045~5.116,P=0.039)。rs77067995位点CT和CT+TT基因型也与AMI显著相关(OR=2.280,95%CI:1.027~5.061,P=0.043;OR=2.312,95%CI:1.045~5.116,P=0.039)。rs80197101和rs77067995呈完美连锁不平衡,两者形成的单倍型AT在AMI组的频率显著高于对照组(χ~2=6.960,P=0.008)。EMSA及转染结果表明,这些SNPs通过影响转录因子与GATA5基因启动子的结合,显著增加GATA5基因启动子在HEK-293细胞和H9c2细胞中的转录活性(P<0.001)。结论:GATA5基因启动子序列中的rs80197101与rs77067995可显著增加AMI的易感性。rs80197101的等位基因A和rs77067995的等位基因T可能是AMI的危险等位基因,单倍型AT可能是AMI的危险单倍型。     

Secular change in menarche in women in Madrid

The age at menarche was estimated by recollection in 1617 women between the ages of 18 and 60 in Madrid and a nearby suburb, Pinto. The population of Pinto is working-class and the Madrid group, taken from residential neighbourhoods , belongs to the upper middle class. In both groups we found a diminution in average age at menarche, from 14.04 to 13.02 years in Madrid and from 14.55 to 13.16 years from about 1935 to about 1965 in Pinto. These changes have been more intense in the group which is less well-off economically, where living conditions have varied much more drastically.     

Intestinal helminthiasis in school children in Haiti in 2002

A survey on intestinal helminths in school children was conducted in Haiti in 2002. This first nationwide study involving the entire country was stratified by department according to urban and rural zones using the cluster method. Focusing on elementary school children (n=5792; age range 3 to 20 years), it involved 26 urban and 49 rural schools randomly selected. Stools were preserved in formalin and examined by the Ritchie technique. Thirty-four per cent of stools (1981/5792) tested positive for intestinal helminths with the following parasites identified: Ascaris lumbricoides (27.3%), Trichuris trichiura (7.3%), Necator americanus (3.8%), Hymenolepsis nana (2%), Taenia sp. (0.3%) and Strongyloides stercoralis (0.2%). The helminth prevalence was higher in rural (38.4%) compared to urban areas (30%). There was no significant difference in prevalence by sex and age. The importance of geohelminths changed from one department to another with the highest prevalence found in the Southern department of Grande Anse (73.7%) and the lowest prevalence in the Center department (20.6%). Five out of the country's nine departments had a similar prevalence varying from 25.5% to 28.2%. Intestinal helminthic polyparasitism was observed in a percentage of infested school children comprise between 3.4% and 28.6% according in relation to the geographical area. A program to fight against geohelminths in school children should be initiated as a public health priority. Albendazole is the drug of choice. Frequency of drug distribution should be based on the prevalence of geohelminths in each department.     

Experience in adult population in dengue outbreak in Delhi

A dengue outbreak has recently hit the Indian capital. We studied the clinical profile of adult patients. Five hundred and sixty patients of dengue infection were admitted in a specially created ward according to the criteria laid down by WHO. Haematemesis (28.28%), epistaxis (26.78%) and malena (14.28%) were some of the common presentations. Similarly lymphadenopathy, especially cervical (30.89%), palatal rashes (26.96%) and hepatomegaly (23.75%) were the most commonly encountered findings on physical examination. Most of the cases were of dengue fever with haemorrhage and only 2.5% cases were classified under dengue haemorrhagic fever or dengue shock syndrome. The average hospital stay was 3.4 days but only 9.8 hours in the eleven patients who died, suggesting their late arrival in preterminal situation giving little time for resuscitation. Thrombocytopenia was not a feature and only 12.85% patients had platelet count less than 70,000/cmm. Most of the patients who were admitted with thrombocytopenia, showed normalization in their platelet counts in next few days. Serological examination demonstrated evidence of recent dengue infection in 41.17% patients. Few patients required blood or platelet concentrate transfusion. Eleven patients died, three due to DIC, one of intracranial haemorrhage and seven due to massive gastric haemorrhage. Rest of the patients recovered completely. Thus we can conclude that recent outbreak in Delhi was of dengue fever with haemorrhage and mortality was very low in patients who came early to the hospital.     

Changes in the hypothalamic nuclei in in experimental allergy

Summary In rabbits subjected to prolonged sensitization and in which the Arthus phenomenon was induced there was a marked reaction of the hypothalamic nuclei. Staining by Gomori's method indicated a cellular swelling, loss of granules, and protoplasmic vacuolization in the supraoptic nucleus. There was a considerable increase in the size of the cross-sectional area of the cells. The same effects were much less well shown in the paraventricular nucleus. These results show that marked signs of increased neurosecretion developed in the animals at the height of the Arthus phenomenon.(Presented by Active Member AMN SSSR V. V. Parin) Translated from Byulleten Éksperimental'noi biologii i Meditsiny, Vol. 55, No. 4, pp. 110–113, April, 1963.     

Cerebellar noradrenergic systems in aging: studies in situ and in in oculo grafts

Age-related changes in noradrenergic function in the rat cerebellum were examined using electrophysiological and electrochemical techniques. Sprague-Dawley and Fischer 344 rats showed subsensitivity to norepinephrine (NE) locally applied onto cerebellar Purkinje neurons. The modulatory actions of NE on Purkinje cell-evoked activity was also examined. In young rats NE preferentially inhibits spontaneous activity more than evoked excitations when compared to control. These modulatory actions of NE are not seen in senescent Fischer 344 rats. The intrinsic vs. extrinsic influences determining the loss of efficacy to NE were examined using three groups of rats with in oculo cerebellar grafts. The first group had young grafts grown in young hosts and these grafts showed a potent response to perfused NE. The second group, old grafts in old hosts, showed a diminished responsiveness to NE with respect to the first group. The third group consisted of young grafts in old hosts. These grafts demonstrated a responsiveness to NE that was indistinguishable from those in the first group. The integrity of the presynaptic NE fibers was examined in the grafts using electrochemical techniques. No difference in the release of NE was observed in the old grafts. Taken together, these results suggest a loss of postsynaptic NE function that is intrinsically determined. The change in NE modulation could influence information processing within the aged cerebellar cortex. This deficit could underlie behavioral changes seen in senescence.