幽门螺杆菌感染致胃黏膜及尿中RNA损伤水平测定

目的 检测幽门螺杆菌（Hp）感染患者胃窦部黏膜及尿液中8-氧化脱氧鸟苷及8-氧化鸟苷水平,探讨Hp感染与DNA及RNA氧化损伤的相关性,并比较不同取材部位水平的差异。方法 Hp阳性组85例,Hp阴性组31例。分别留取尿液标本以层析分析法,同时两组中各30例取胃窦部黏膜以免疫组化法检测8-氧化脱氧鸟苷及8-氧化鸟苷。结果 胃窦部黏膜检测结果显示Hp阳性组8氧化鸟苷高于Hp阴性组,差异有统计学意义（P<0.05）,8-氧化脱氧鸟苷高于Hp阴性组,差异无统计学意义（P>0.05）;尿液检测,Hp阳性组8-氧化鸟苷及8-氧化脱氧鸟苷水平均高于Hp阴性组,差异均有统计学意义（P<0.05）。结论 尿液检测与胃黏膜组织检测结果趋势一致,Hp感染后DNA及RNA氧化损伤水平高于Hp阴性对照组,且尿液检测更敏感。RNA氧化产物8-氧化鸟苷可能是Hp感染致病的一个较敏感的指标。     

中国高尿酸血症患者HLA-B58:01基因的人群分布

目的全面了解中国大陆各地区HLA-B*58:01基因的阳性率和频率,有效地指导高尿酸血症患者临床用药及临床基因筛查的必要性。方法对中华骨髓库891 793例中国大陆人群行HLA高分辨分型,并按31个省市自治区分层,明确HLA-B*58:01基因阳性率和基因频率。结果中国大陆人群HLA-B*58:01基因阳性率呈现南方人群中较其他地区高;按地区分类,华南地区的HLA-B*58:01基因阳性率最高,西南地区及北方地区阳性率较低;按省市自治区分类,阳性率较高的分别为福建(28.43%)、广西(20.75%)、海南(20.20%)、广东(19.66%)、浙江(18.38%),阳性率较低的为天津(3.52%)、内蒙古(3.49%)、西藏(3.27%)、河北(3.11%)、山西(3.08%)。结论重视高尿酸血症HLA-B*58:01基因阳性人群,尤其应对中国南方人群高尿酸血症患者进行HLA-B*58:01基因筛查,以避免使用别嘌呤醇所致严重不良后果。     

易感基因HLA⁃B*35及其亚型在中国大陆的分布

目的：明确易感基因HLA?B*35及其亚型在中国大陆人群总体及区域分布情况,以期为相关疾病,尤其是亚急性甲状腺炎的诊断和鉴别诊断提供参考。方法：中国大陆941 902例健康成人经HLA基因高分辨分型并按31个省市、自治区、直辖市进行分层,以探讨中国大陆健康成人及其HLA?B*35基因和其亚型总体和地区分布特征。结果：中国大陆健康成人群体HLA?B*35基因阳性率呈现北方人群高于其他地区人群;按地区分类,西北地区的HLA?B*35基因阳性率最高,华南地区阳性率较低;按省市自治区分别计算,阳性率由高到低排列分别为内蒙古自治区（11.99%）、新疆维吾尔自治区（11.76%）、宁夏回族自治区（11.75%）、青海省（11.61%）、甘肃省（11.14%）,阳性率最低为广西壮族自治区（3.79%）;HLA?B*3501和B*3503按地区分类时为西北最高,华南最低;按省市自治区分别统计,显示B*3501内蒙古自治区最高而广西壮族自治区最低,B*3503则表现为青海省最高,浙江省最低。结论：HLA?B*35在中国大陆地区呈现北高南低,不同地区B*35及其亚型分布,结果有助于相关疾病诊断及鉴别诊断。     

人类单克隆抗体在固定组织切片上鉴别皮肤恶性黑素瘤和良性痣

本文作者用转移性黑素瘤患者局部淋巴结的淋巴细胞与小鼠骨髓瘤细胞株M5融合获得了6株稳定的杂交瘤,从中选出二株IgG单克隆抗体,采用直接卵蛋白—生物素—免疫过氧化酶染色方法研究了64个福尔马林固定,石腊包埋的组织切片.结果二株抗体均与所有18例原发性皮肤恶性黑素瘤、5例转移性皮肤黑素瘤及2例眼黑素瘤有阳性染色反应.其中一株抗体(2-139-1)能与4份恶性雀斑样痣标     

炭疽芽孢杆菌特异性基因序列双重TaqMan聚合酶链反应快速检测体系的建立

目的 以炭疽芽孢杆菌的主基因和致病毒素基因pagA特异性序列为检测标志，建立高敏感、高特异的荧光双重实时TaqMan聚合酶链反应快速检测体系。方法 根据炭疽杆菌主基因组特异性序列（Gs）和特异的毒力岛pagA基因序列（Pag）设计引物及探针，通过构建目的质粒获得标准模板，利用TaqMan标记探针和便携式Smartcycle实时聚合酶链反应检测平台探讨该检测体系的检测敏感性和特异性。结果该体系炭疽芽孢杆菌的检测敏感度为10^2拷贝每反应体系，与其他蜡样杆菌群细菌未出现非特异性扩增，具有较高的特异性。整个反应在1h内完成，适合于实验室或野外环境下炭疽芽孢杆菌的快速检测。结论 本研究建立的双重TaqMan实时聚合酶链反应检测体系可作为炭疽芽孢杆菌快速、准确、特异、敏感的检测手段。     

MEF2A基因第11号外显子突变的检测及其基因结构分析

目的检测我国汉族人群中MEF2A基因第11号外显子区的突变,分析MEF2A特异性突变的基因结构和遗传学意义。方法用PER-SSCP和／或PCR产物直接测序法对536例冠状动脉粥样硬化性心脏病阳性病例、232例冠状动脉粥样硬化性心脏病阴性对照及232例健康体检者的MEF2A基因第11号外显子区进行突变检测,用质粒克隆测序法对各突变位点作进一步验证。结果在冠状动脉粥样硬化性心脏病阳性病例组发现一例MEF2A 21碱基的特异性突变。另外还发现二种罕见的突变类型。结论MEF2A基因第11号外显子区存在多种罕见的突变类型,基因结构分析显示MEF2A基因21碱基特异性突变有多种形成模式。     

2005年至2008年全国HLA低分辨基因分型检测室间质量评价结果分析

Objective National external quality assessment (EQA) results from 2005 to 2008 for HLA class Ⅰ (A, B) and class Ⅱ (DRB1) low-resolution DNA typing were summarized with the goal of exploring strategies to assure and improve HLA DNA typing performance in clinical testing. Methods HLA allele results from the four consecutive years EQA events were analysed. Different kinds of errors were described and classified, and the possible causes were discussed. Results Participant laboratories were increasing in the four consecutive years with the number of 22, 28, 47 and 61 in 2005, 2006, 2007 and 2008,respectively. 2 844 HLA DNA typings were returned from the participants during the 4 years EQA surveys, and overall 30 errors (1.05%) were identified. These 30 errors were classified into two major types of errors including 25 technical genotyping errors and 5 human errors. The proportion of laboratory participants which made mistakes was 13. 6%, 10. 7%, 10. 6% and 16.4% in 2005, 2006, 2007 and 2008, respectively. Conclusions Above 10% of participant laboratories exhibited errors in the four consecutive years HLA molecular typing EQA surveys. Relevant important attentions should be greatly paid to clinical HLA molecular typing test.     

2005年至2008年全国HLA低分辨基因分型检测室间质量评价结果分析

Objective National external quality assessment (EQA) results from 2005 to 2008 for HLA class Ⅰ (A, B) and class Ⅱ (DRB1) low-resolution DNA typing were summarized with the goal of exploring strategies to assure and improve HLA DNA typing performance in clinical testing. Methods HLA allele results from the four consecutive years EQA events were analysed. Different kinds of errors were described and classified, and the possible causes were discussed. Results Participant laboratories were increasing in the four consecutive years with the number of 22, 28, 47 and 61 in 2005, 2006, 2007 and 2008,respectively. 2 844 HLA DNA typings were returned from the participants during the 4 years EQA surveys, and overall 30 errors (1.05%) were identified. These 30 errors were classified into two major types of errors including 25 technical genotyping errors and 5 human errors. The proportion of laboratory participants which made mistakes was 13. 6%, 10. 7%, 10. 6% and 16.4% in 2005, 2006, 2007 and 2008, respectively. Conclusions Above 10% of participant laboratories exhibited errors in the four consecutive years HLA molecular typing EQA surveys. Relevant important attentions should be greatly paid to clinical HLA molecular typing test.     

2005年至2008年全国HLA低分辨基因分型检测室间质量评价结果分析

Objective National external quality assessment (EQA) results from 2005 to 2008 for HLA class Ⅰ (A, B) and class Ⅱ (DRB1) low-resolution DNA typing were summarized with the goal of exploring strategies to assure and improve HLA DNA typing performance in clinical testing. Methods HLA allele results from the four consecutive years EQA events were analysed. Different kinds of errors were described and classified, and the possible causes were discussed. Results Participant laboratories were increasing in the four consecutive years with the number of 22, 28, 47 and 61 in 2005, 2006, 2007 and 2008,respectively. 2 844 HLA DNA typings were returned from the participants during the 4 years EQA surveys, and overall 30 errors (1.05%) were identified. These 30 errors were classified into two major types of errors including 25 technical genotyping errors and 5 human errors. The proportion of laboratory participants which made mistakes was 13. 6%, 10. 7%, 10. 6% and 16.4% in 2005, 2006, 2007 and 2008, respectively. Conclusions Above 10% of participant laboratories exhibited errors in the four consecutive years HLA molecular typing EQA surveys. Relevant important attentions should be greatly paid to clinical HLA molecular typing test.     

胆囊息肉样病变(附9例报告)

胆囊壁上向囊腔内样突起的胆囊疾病称胆囊息肉样病变(Polydoid Lesion)。近年来由于 B 型超声显像(BUS)的广泛应用,本病报告日益增多。本院自1985年4月—1987年4月经 BUS 检出病变胆囊1182例,其中胆囊息肉样病变42例,占3.55%。9例因症