新的良性家族性婴儿惊厥位点候选基因的突变分析

目的 前期工作中我们将一中国良性家族性婴儿惊厥(BFIC)家系的致病基因定位于1p36.12～1p35.1上,为了进一步克隆该致病基因,对该定位区间内的候选基因进行突变分析.方法 通过生物信息学查询,选择SLC9A1、STMN为候选基因,应用Primer 3引物设计、PCR 扩增和直接测序的方法 进行候选基因的突变检测...     

新的良性家族性婴儿惊厥—候选基因的突变分析

目的:对一个致病基因已定位于1p36.12～1p35.1的BFIC家系进行位置功能候选克隆研究。方法:引物设计应用在线引物设计软件—Primer 3,采取PCR扩增,直接测序的方法进行候选基因ATPIF1的突变分析。序列分析采用DNATAR软件。结果:未发现与疾病表型共分离的致病突变,但其中发现3个已知的多态(IVS1-19a→g,IVS3-69a→g,IVS3-96a→g)。结论:排除ATPIF1为BFIC致病基因的可能。     

新的良性家族性婴儿惊厥位点候选基因的突变分析

目的 前期工作中我们将一中国良性家族性婴儿惊厥(BFIC)家系的致病基因定位于1p36.12～1p35.1上,为了进一步克隆该致病基因,对该定位区间内的候选基因进行突变分析.方法 通过生物信息学查询,选择SLC9A1、STMN为候选基因,应用Primer 3引物设计、PCR 扩增和直接测序的方法 进行候选基因的突变检测;采用DNATAR软件进行序列分析.结果 未发现与BFIC共分离的致病突变,但发现2个已知的多态.结论 排除SLC9A1、STMN为该BFIC家系致病基因的可能.     

22例伴胃肠炎的良性婴儿惊厥临床随访观察

目的:探讨伴胃肠炎的良性婴儿惊厥的临床特点.方法:对22例伴胃肠炎的良性婴儿惊厥患儿进行临床观察,并进行1～2年的随访.结果:大部分患儿未再发生惊厥,精神、运动及生长发育正常.结论:对伴胃肠炎的良性婴儿惊厥可暂时不采取抗癫痫药物治疗,但需作长期随访.     

胃肠炎伴良性婴幼儿惊厥发生的影响因素分析

目的 研究胃肠炎伴良性婴幼儿惊厥(BICE)发生的影响因素。方法 选取2018年9月—2020年9月郑州大学第一附属医院收治的86例BICE患儿为观察组,同期选取50例普通急性胃肠炎患儿为对照组,对入组者临床资料、辅助检查结果、症状体征等进行回顾性分析,对比两组患儿各项资料,并采用多因素Logistic回归分析影响因素。结果 观察组所有患儿精神状态均正常,81例患儿体温正常(94.19%),80例患儿出现呕吐症状(93.02%),每日大便次数≤3次58例(67.44%),大便性状多为水样或蛋花汤样,未见明显脱水情况。惊厥发作时间为胃肠炎病毒感染后第1～3 d 66例(76.74%),发病季节集中于秋冬季节59例(68.60%),惊厥持续时间≤5 min 73例(84.88%),惊厥发作次数为1次～2次74例(86.05%),全身性发作62例(72.09%);与对照组比较,观察组轮状病毒感染、惊厥家族史占比分别为52.32%、10.46%,均增高,血清锌、铁水平分别为(49.17±6.16)μmol/L、(10.08±2.55)μmol/L,均较对照组低(P<0.05);经多因素L...     

轮状病毒肠炎伴良性惊厥患儿IL-6、IL-8的测定及意义

目的：探讨轮状病毒肠炎（RV）伴良性惊厥患儿血清IL-6,IL-8的变化及临床意义。方法：对临床确诊的轮状病毒性肠炎伴良性惊厥患儿共25例,发病3d内采取化学发光法检测血清白细胞介素（IL-6、IL-8）。结果：肠炎伴良性惊厥组急性期血清IL-6、IL-8与恢复期血清水平比较,差异有统计学意义（P〈0.01）。结论：婴幼儿轮状病毒肠炎伴良性惊厥存在免疫失衡、动态跟踪细胞因子的水平变化,尤其是IL-6水平的变化为判断预后及病情发展提供了有效的细胞学依据。     

轻度胃肠炎伴婴幼儿良性惊厥的临床特点分析

目的 总结分析轻度胃肠炎伴婴幼儿良性惊厥(BICE)的临床特点.方法 选取2018年10月～2019年10月沈阳市儿童医院收治的56例BICE患儿作为研究对象,对发病年龄、惊厥临床表现、实验室化验检查结果 以及预后随访情况进行回顾性分析.结果 56例BICE患儿均为急性起病,75.00％年龄处于1～2岁,62.50％首...     

轻度胃肠炎伴婴幼儿良性惊厥(BICE)的临床分析

目的对轻度胃肠炎伴婴幼儿良性惊厥(BICE)展开临床分析与探讨。方法随机抽取在2007年1月至2011年12月间我院收治的42例轻度胃肠炎伴婴幼儿良性惊厥患儿病例,对其实验室检查、临床表现、治疗效果、随访结果展开回顾性分析。结果本组42例患儿胃肠道的临床症状相对较轻,不存在或者是仅为轻度的脱水。发病平均月龄(16.2±8.3)个月,惊厥发生在前3d者35例(83.33%)。随访42例患儿无1例复发,生长发育正常。结论对轻度胃肠炎伴婴幼儿良性惊厥的发病病因不是十分明确,该症状的胃肠道症状相对较轻,然惊厥容易反复发作,其有效治疗药物为苯巴比妥钠。预后效果良好,无复发病例。     

基因6P21—22与白癜风易感性的研究

目的 对收集的广东汉族白癜风38家系183人进行基因精细定位,以期识别白癜风的致病基因。方法收集白癜风患者及其家系成员的临床资料及血液样本,抽提外周血基因组DNA,选用荧光标记引物及微卫星标记,用Genescan和Genotyper软件进行基因分型,用Linkage软件包进行连锁分析,明确致病基因的区域,并对6P21—22进行精细定位。结果定位结果发现白癜风致病基因与微卫星标记D6s289-D6S1584处获得最大连锁值（NPL=4．74,P=-0．000023,HLOD=3．99,a=42％）。结论染色体6P21—22上可能存在广东汉族人的白癜风易感基因。     

宁波地区肠道病毒71型VP1基因特征分析

 目的  了解宁波地区肠道病毒71型（enterovirus 71,EV71）流行株VP1基因特征。方法   采集手足口病患者的样本进行病毒分离和鉴定,用逆转录-聚合酶链反应对EV71流行株VP1进行扩增和测序。对流行株VP1进行进化分析,并将流行株VP1与各基因型代表株进行序列比对。同时测定EV71 流行株的半数组织培养感染量（median tissue culture infective dose,TCID50）。结果  2008-2009年,宁波地区分离出23株病毒,鉴定后其中6株为EV71。EV71 流行株VP1进化分析显示,6株EV71流行株与C4亚型代表株聚于同一分支,流行株VP1的核苷酸和氨基酸序列与C4亚型代表株的同源性最高,分别为92.0%～93.1%和98.9%～99.3%。6株EV71流行株的TCID50为101.16～103.33 TCID50/ml。 结论  2008-2009年宁波地区EV71流行株属于C4亚型。     

Analyses of single nucleotide polymorphisms and haplotype linkage of the humanABCB1 (MDR1) gene in Korean

Single nucleotide polymorphisms (SNPs) in theMDR1 gene that are responsible for drug efflux can cause toxicity. Therefore, this study determined the SNPs of the KoreanMDR1 gene, and analyzed the haplotypes and a linkage disequilibrium (LD) of the SNPs determined. The frequency of 9 SNPs from theMDR1 gene was determined by PCR-RFLP analyses of 100 to 500 healthy individuals. The frequcies of the SNPs were C3435T (47.7%), G2677T (37.6%), G2677A (4.4%), T1236C (21.7%), T129C (8%), A2956G (2.5%), T307C (1.5%), A41aG (9.2%), C145G (0%), and G4030C (0%). Analyses of the haplotype structure and an estimation of the LD of the combined polymorphisms demonstrated that the frequency of the 1236T-2677G-3435T haplotype is much higher in Koreans (14.1%) than in Chinese and western black Africans and the C3435T SNP in Koreans appears to have LD with T129C in Koreans for the first time. These results provide insight into the genetic variation ofMDR1 in Koreans, and demonstrated the possibility of a new LD in this gene.     

简析p53基因与肿瘤多药耐药

在过去的数十年内对p53基因及其产物的研究取得了重大进展,而肿瘤的多药耐药已经成为现今肿瘤治疗的重大障碍。考虑到p53基因作为抑癌基因的重要意义,整理归纳了p53及其产物在抑癌方面的主要机制,肿瘤多药耐药基因之间的相互作用关系以及在神经系统中p53基因突变的反常保护机制,以期为逆转抗肿瘤药的多药耐药提供新思路。     

Genetic polymorphisms and linkage disequilibrium of sulfotransferase SULT1A1 and SULT1A2 in a Korean population: comparison of other ethnic groups

Aims: To determine the allele frequencies of sulfotransferases (SULTs) 1A1 and 1A2 and their linkage disequilibrium in a Korean population and compare them with those of other ethnic groups. Methods: Genotypes of the SULT1A1*1, *2, and *3 and SULT1A2*1, *2, and *3 allelic variants were determined in 234 Korean subjects using polymerase chain reaction (PCR)–restriction fragment length polymorphism (RFLP) methods. Results: Allele frequencies for SULT1A1*1 and *2 were 0.876 [95% confidence interval (CI), 0.843–0.905] and 0.124 (95% CI, 0.096–0.157), respectively. Similarly, those for SULT1A2*1 and *2 were 0.885 (95% CI, 0.852–0.912) and 0.115 (95% CI, 0.088–0.150), respectively. However, no subject with SULT1A1*3 or SULT1A2*3 was detected. These genotype distributions are similar to those of Asian populations including the Chinese and Japanese, but quite different from other ethnic groups such as African-Americans and Caucasians. The expected allelic frequencies of SULT1A1 and SULT1A2 at Hardy–Weinberg equilibrium are quite similar to the observed distributions in the population. SULT1A1*2 and SULT1A2*2, the most common variant alleles of these two genes, are strongly and positively linked in the Korean population (D′=0.8919, χ² =343.24, P=0.0034). Conclusions: SULT1A1*2 and SULT1A2*2 are the major allelic variants in the Korean population, whereas the SULT1A1*3 and SULT1A2*3 alleles were not found. SULT1A1*2 and SULT1A2*2 are strongly linked.     

A genome-wide scan for loci influencing adolescent cannabis dependence symptoms: evidence for linkage on chromosomes 3 and 9

OBJECTIVE: Cannabis is the most frequently abused illicit substance among adolescents and young adults. Genetic risk factors account for part of the variation in the development of cannabis dependence symptoms; however, no linkage studies have been performed for cannabis dependence symptoms. This study aimed to identify such loci. METHOD: Three hundred and twenty-four sibling pairs from 192 families were assessed for cannabis dependence symptoms. Probands (13-19 years of age) were recruited from consecutive admissions to substance abuse treatment facilities. The siblings of the probands ranged in age from 12 to 25 years. A community-based sample of 4843 adolescents and young adults was utilized to define an age- and sex-corrected index of cannabis dependence vulnerability. DSM-IV cannabis dependence symptoms were assessed in youth and their family members with the Composite International Diagnostic Instrument-Substance Abuse Module. Siblings and parents were genotyped for 374 microsatellite markers distributed across the 22 autosomes (average inter-marker distance=9.2cM). Cannabis dependence symptoms were analyzed using Merlin-regress, a regression-based method that is robust to sample selection. RESULTS: Evidence for suggestive linkage was found on chromosome 3q21 near marker D3S1267 (LOD=2.61), and on chromosome 9q34 near marker D9S1826 (LOD=2.57). CONCLUSIONS: This is the first reported linkage study of cannabis dependence symptoms. Other reports of linkage regions for illicit substance dependence have been reported near 3q21, suggesting that this region may contain a quantitative trait loci influencing cannabis dependence and other substance use disorders.     

120例儿童急诊惊厥的病因分析及急救应对策略

目的 对儿童急诊惊厥的病因进行分析,并探讨儿童急诊惊厥的应对措施,以提高儿童急诊惊厥的诊疗水平.方法 对2015年1月至2016年5月本院接诊的120例儿童急诊惊厥病例进行回顾性分析,分析其发病原因及急救应对措施.结果 热性惊厥占44.17％,癫痫占16.67％,颅内感染占15.83％,以上是急诊惊厥患儿的主要病因;研究中仅有1例为家属不恰当的呼吸道护理导致吸入性肺炎,其余均无误吸、窒息情况发生;所观察病例惊厥均于1～5 min内得到控制,有2例惊厥持续状态患儿,经咪达唑仑持续泵入后得以控制;配合以病因治疗后急诊观察期无惊厥复发.结论 应结合患儿的年龄、病史、体征、辅助检查等快速的推断出惊厥的原因,急救时做好呼吸道管理并及时止惊最为关键,并随即做好病因治疗.