中国辽宁锡伯族群体3个短串联重复位点的遗传多态性分析

背景:对常染色体STR基因座的多态性的研究可为法医学亲权鉴定提供基础数据.目的:探索辽宁锡伯族D16S539,THO1,D13S317 3个常染色体基因座的遗传多态性,建立锡伯族群体的遗传学基础数据.方法:采集辽宁省沈阳市新城子区黄家乡锡伯族中小学的150名中小学生口腔黏膜细胞,Chelex 100法提取DNA,进行荧光标记PCR扩增,产物在Li-COR 4300基因分析仪上进行电泳,E-seq分析软件计算扩增产物片段相对大小,进行基因型分型.调查辽宁地区锡伯族群体 3个 STR基因座等位基因频率,进行遗传多态性分析.结果与结论:辽宁锡伯族群体中3个STR基因座具有遗传多态性,其基因型分布符合Hardy-Weinberg平衡定律.辽宁锡伯族群体中3个STR基因座的杂合度分布在0.769~0.810;个人识别力分布在0.824~0.929,累积个人识别能力为0.999;多态信息量分布在 0.650~0.790;非父排除率分布在0.565~0.790,累积非父排除率为0.979.说明辽宁锡伯族群体3个常染色体STR基因座有较高的非父排除率和个体识别能力,可为法医学亲子鉴定和个体识别及移植配型等遗传学研究提供依据.     

印度人睫毛与蒙古褶二遗传性状基因频率的调查分析

目的 对印度留学生睫毛与蒙古褶(内眦褶)两种遗传性状的基因频率的调查分析,为人类群体遗传学研究提供资料.方法观察受试者睫毛的长度及蒙古褶的有无.睫毛长度在8mm以上是常染色体显性遗传,长度在5mm以下是常染色体隐性遗传;蒙古褶也叫内眦褶即上眼皮在眼内角向下延伸形成的皱褶,有蒙古褶的是常染色体显性遗传,没有蒙古褶的是常染...     

TNF-α及CTLA-4基因多态性与中国汉族血友病A患者血浆凝血因子Ⅷ抑制物发生的相关性研究

目的 探讨中国汉族血友病A(HA)患者肿瘤坏死因子α(TNF-α)-308基因多态性及细胞毒性T淋巴细胞相关抗原4(CTLA-4)-318基因多态性与凝血因子Ⅷ(FⅧ)抑制物的相关性.方法 采用聚合酶链反应结合限制性内切酶片段长度多态性(PCR-RFLP),对140例经过FⅧ替代治疗的HA患者和108名正常对照者的TNF-α及CTLA-4基因的单碱基多态性进行检测.所有HA患者样本均应用改良的Nijmegen方法检测FⅧ抑制物活性.结果 在HA患者中,TNF-α-308 G/G基因型118例(84.3%),G/A基因型18例(12.8%),A/A基因型4例(2.9%);CTLA-4-318 C/C基因型108例(77.2%),C/T基因型30例(21.4%),T/T基因型2例(1.4%).TNF-α-308、CTLA-4-318等位基因频率在HA病例组与正常对照组间差异均无统计学意义(P＞0.05),关联分析显示携带TNF-α-308 A等位基因HA患者发生FⅧ抑制物的风险是非A等位基因携带患者的7.519倍(OR=7.519,95%CI=3.168～17.844);而携带TNF-α-308 A等位基因重型HA患者发生FⅧ抑制物的风险是非A等位基因携带重型患者的8.163倍(OR=8.163,95%CI=2.521～26.434).携带CTLA-4-318 T等位基因血友病A患者发生FⅧ抑制物的风险与非T等位基因携带患者的差异无统计学意义(OR=1.586,95%CI=0.729～3.450).结论 TNF-α-308基因多态性与中国汉族人群重型HA患者发生FⅧ抑制物具有相关性,该基因可能为HA患者替代治疗产生抑制物的调节基因之一.

Abstract：

Objective To investigate the potential association between factor Ⅷ inhibitor development and polymorphisms of tumor necrosis factor-α(TNF-α)-308 and cytotoxic T-lymphocyte associated protein-4 gene in Chinese Han patients with hemophilia A(HA). Methods The single base change polymorphism in TNF-α and CTLA-4 gene was analyzed in 140 Chinese Han patients with hemophilia A who have been treated with plasma-derived FⅧ concentrates and 108 normal controls by using PCR-restrictive fragment length polymorphism(RFLP). All of the HA patients' plasma samples were measured by modified-Nijmegen assay simultaneously. Results In HA patients,G/G genotype,G/A genotype and A/A genotype were detected in 118 (84.3%) ,18( 12.8% ) and 4 cases(2.9% )respectively; C/C genotype,C/T genotype and T/T genotype were detected in 108(77.2% ), 30 (21.4%) and 2 cases( 1.4% )respectively. The difference in the genotype frequencies between HA patients and controls was nonsignificant ( P ＞ 0.05 ). Patients who were carriers of homozygotes for A allele had a higher risk of inhibitor development compared with those who were not( OR =7. 519, 95% CI = 3. 168 - 17. 844). Severe HA patients who were carriers of homozygotes for A allele had a higher risk of inhibitor development compared with those who were not ( OR =8. 163, 95% CI =2.521 -26. 434 ). There was no statistical difference in the risk of inhibitor development between the patients who were carriers or not ( OR = 1. 586, 95% CI = 0. 729 - 3. 450 ). Conclusion TNF-α-308 gene polymorphism is significantly associated with inhibitor development in Chinese Han patients with severe hemophilia A. TNF-α gene may be a useful marker and potential modulator of the immune response to replacement therapy for hemophilia A patients.     

噬菌体生物扩增法在结核性胸膜炎早期诊断中的研究

目的探讨应用噬菌体生物扩增法（PhaB）早期诊断结核性胸膜炎的临床价值。方法选择70例结核性胸膜炎患者,胸水分别行PhaB法、腺苷脱氨酶（ADA）检测、BACTEC MGIT960培养法,患者均行结核菌素（PPD）试验。结果PhaB法、ADA、BACTEC MGIT960培养法阳性率分别为48.57%、30%、7.14%,PhaB法阳性率高于其他2种方法（P〈0.05或〈0.01）。PhaB法与PPD试验总体阳性符合率61.11%,PhaB法阳性率高于PPD试验（P〈0.05）。结论PhaB检测胸水中结核分枝杆菌具有较高阳性率,且操作简便,可作为结核性胸膜炎早期诊断的方法。     

巧克力色胸水1例误诊分析并文献复习

胰性胸水是指慢性胰腺炎、胰腺假性囊肿、胰胸瘘等胰腺良性疾病所引起的大量、复发性、持续性的富含淀粉酶的胸水（Pleural effusion with amylase）。临床上较少见,尤其是右侧大量胸腔积液。胰性胸水常和胰性腹水并存,平均发病年龄在40岁左右,男性发病率是女性的2-3倍。它不包括急性胰腺炎引起的一过性胸腔炎性渗出的液体积聚和胰腺癌胸腔转移所致的癌性胸水。     

腰椎间盘囊肿椎间盘镜下切除一例报告

患者 男,33岁,公司职员.因"右侧腰腿痛1个月,加重2周"入院.患者于1个月前无明显诱因出现右侧腰背部疼痛,并向右下肢放射,端坐或行走时明显,卧床时减轻,日夜无差别,经休息后无缓解.     

蛛网膜下腔注射Ro25-6981对切口痛大鼠的镇痛作用研究

Objective To investigate the analgesic effects of intrathecal administration of Ro 25-6981, a selective antagonist of the NR2B subunit of NMDA receptors (NR2B), in a rat model of incision pain. Methods Sixty SD rats were randomly divided into 4 groups: control group (C); incisional pain group (Ⅰ); intrathecal group of Ro 25-6981 at the dose of 50 μg/25 μl(R1);intrathecal group of Ro 25-6981 at the dose of 200 μg/25 μl(R2). Intrathecal injection of 5% DMSO solvent at the dose of 25 μl was administrated in group C and Ⅰ. Rat models of incisional pain on the right hind were prepared after intrathecal injection in group Ⅰ,R1 and R2. All rats were anesthetized with sevoflurane. The 50% paw withdrawal mechanical threshold (PWMT) and paw withdrawal thermal latency (PWTL) were tested to evaluate the behavioral changes and measured at 24 h before incision and at 2,6,24 h after incision. And the locomotor functions were also examined at the same time points. Results Compared with group C and baseline,the decreases of 50% PWMT (7.0±0.9), (6.7±0.7), (6.4±1.2) g and PWTL (10.3±1.4), ( 10. 1±1.0), (10.0±1.0) s were observed at each time point after incision in group Ⅰ (P＜0.05); Compared with group Ⅰ, significant changes of 50% PWMT and PWTL were not observed at each time point in group R1 (P＞0.05); Compared with group Ⅰ, increases of both 50% PWMT (9.0±0.8) g and PWTL (13.7±1.0) s were observed at 2 h after incision in group R2 (P＜0.05), while no significant changes of 50% PWMT and PWTL were observed at 6 h and 24 h after incision in group R2. No significant changes in locomotor functions were observed before and after intrathecal administration in rats (P＞0.05). Conclusion Intrathecal injection of Ro 25-6981 at the dose of 200.0 μg, the selective antagonist of the NR2B, exerts significant analgesic effects on incision pain in rats without affecting of locomotor functions.     

老年颈椎骨折患者的临床特点及治疗

60岁以上老年人占中国人口的比例不断上升.2006年,我国老年人口占总人口比例为11.3%,高龄人口(80岁以上)占老年人口的比例为10.7%~([1]).     

胃肠道间质瘤的临床研究

目的探讨胃肠道间质瘤（GIST）临床病理特点、手术治疗及预后。方法对1997年4月至2008年6月间84例手术切除的GIST患者的临床病理资料进行回顾性分析,并评价预后。结果84例GIST位于胃42例,小肠24例,食管5例,直肠6例,胃肠道外7例;肿瘤直径（5．6±4．8）cm,肿瘤组织免疫组织化学检测CD117阳性表达率为96．4％。79例行肿瘤完全切除,5例行姑息切除或肿瘤活检。78例获随访患者1、3、5年生存率分别为92．0％、79．2％和72．0％,根据肿瘤直径和核分裂像计数分级的Fletcher恶性程度风险分级与生存率有密切关系（P〈0．01）,极低度风险组、低度风险组生存率与高度风险组生存率间差异有统计学意义（P值分别为0．003及0．000）。结论GIST的Fletcher分级与患者术后生存率有关。对高度风险者,需积极施行切除范围较大的手术。     

盐酸贝那普利对阵发性心房颤动患者自主神经功能的影响

目的:观察服用盐酸贝那普利后老年特发性阵发性心房颤动(IPAF)患者心率变异性的变化,评价盐酸贝那普利对IPAF患者自主神经功能的影响。方法:选取老年IPAF患者50例,给予贝那普利治疗4周,治疗前后分别进行24 h动态心电图检测和HRV分析。结果:治疗后老年IPAF患者的心率变异性明显升高。结论:盐酸贝那普利可以改善老年IPAF患者的自主神经功能。