白色念珠菌的耐药性和随机扩增DNA多态性分型研究

采用Etest药敏试验方法检测 30株临床分离白色念珠菌对 5种抗真菌药物的敏感性 ,并用随机扩增DNA多态性 (RAPD)分型方法对这些菌株进行基因分型。结果发现有两株对氟康唑耐药 ,且它们的RAPD带型有着高度相似性 ,提示RAPD带型可能与耐氟康唑基因有关。     

Vitamin D receptor gene polymorphism in postmenopausal women of the Han and Uygur nationalities in China

Ｔｈｅｒｉｓｋｏｆｏｓｔｅｏｐｏｒｏｓｉｓｉｓｃｌｏｓｅｌｙｒｅｌａｔｅｄｔｏｂｏｎｅｍｉｎｅｒａｌｄｅｎｓｉｔｙ (ＢＭＤ ) ,ｗｈｉｃｈｉｓｕｎｄｅｒｓｔｒｏｎｇｇｅｎｅｔｉｃｃｏｎｔｒｏｌ Ｍｏｒｒｉｓｏｎｅｔａｌ1　ｈａｖｅｓｈｏｗｎａｓｔｒｏｎｇｒｅｌａｔｉｏｎｓｈｉｐｂｅｔｗｅｅｎｐｏｌｙｍｏｒｐｈｉｓｍａｔｔｈｅｖｉｔａｍｉｎＤｒｅｃｅｐｔｏｒ (ＶＤＲ)ｇｅｎｅａｎｄＢＭＤ ＩｎａｄｄｉｔｉｏｎｔｏＢｓｍⅠ ,ｒｅｓｔｒｉｃｔｉｏｎｆｒａｇｍｅｎｔｌｅｎｇｔｈｐｏｌｙｍｏｒｐｈｉｓｍａｔｔｈ…     

人载脂蛋白E基因型测定方法的建立

目的：建立一种准确、简便和经济的适用于大范围测定载脂蛋白Ｅ基因型的方法。方法：自中血中采用ＴＫＭ法提取人基因组ＤＮＡ,ＰＣＲ－ＲＦＬＰ确定载脂蛋白Ｅ的基因型,硝酸银染色聚丙烯酰胺凝胶,若银染效果不佳可用硝酸脱色后重染。结果：ＴＫＭ法获得ＤＮＡ在产量和质量上均能满足ＰＣＲ需求;电泳凝胶经银染可得清晰的ＤＮＡ特异带,据此能准确确定样品载脂蛋白Ｅ的基因基因型;用硝酸溶液脱色后的凝胶经重染仍可得到清晰的图     

江西省丙型肝炎病毒的基因型分布

目的：探讨江西地区HCV基因型分布。方法：限制性片断长度多态性分析（RFLP）分析89例HCV－RNA阳性病人HCV的基因型。结果：89例HCV－RNA阳性中,HCVⅡ型81例,占91．01％（81／89）;HCVⅢ型7例,占7．87％（7／89）;HCVⅡ／Ⅲ混合型1例,占1．12％（1／89）。HCVⅡ型81例中,急性丙型肝炎5例,慢性丙型肝炎75例,占92．6％,肝功能正常,HCV慢性携带1例。HCVⅢ型7例中,急性丙型为3例,慢性再型肝炎4例,占57％,HCVⅡ／Ⅲ混合型1例,为急性丙型肝炎。结论：江西省丙型肝炎基因基以Ⅱ型为主,占91．1％,与HCVⅢ相比较,HCVⅡ型感染与慢性肝炎有更密切关联。     

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype,a new cohort of 86 patients

Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype–phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients.     

地西泮在两组基因型之间的代谢差异

为研究地西泮在两组基因型（ｗｔ／ｍｌ和ｍｌ／ｍｌ）的国人体内代谢的差异,采用ＰＣＲ法筛选１２位符合基因型要求的受试 ,６位为ＣＹＰ２Ｃ１９突变型纯合子（ｍｌ／ｍｌ）,６位为ＣＹＰ２Ｃ１９的杂合子（ｗｔ／ｍｌ）。每位受试者口服５ｍｇ地西泮片,然后用气相色谱法测定其血浆中地西泮的浓度,计算其药代动力学参数,结果显示两组受试者之间地西泮代谢有显著性差异。结论：遗传因素是决定地西泮代谢的重要因素。     

视紫红质基因型与视网膜色素变性临床表型相关性的初步研究

目的:对国人视网膜色素变性(retinitis pigmentosa RP)患者中视紫红质基因不同突变与临床表型相关性进行初步研究。方法:对经异源双链-SSCP和序列分析确定为视紫红质基因不同位点突变的3例RP患者,收集其详细临床资料,比较其异同。结果:详细描述了3例已知突变患者的临床表现。视紫红质基因不同位点突变,临床表现不尽相同,发生在杆细胞外节胞液侧的突变,常导致严重类型的Ⅰ型视网膜色素变性;而发生在杆细胞外节盘膜内的突变,常引起相对较轻的Ⅱ型视网膜色素变性。结论:本文3例视紫红质基因不同位点突变与临床表型有一定关系,但要建立基因突变与表型间确切的对应关系和规律,尚需积累更多病例资料进一步分析研究。眼科学报1999;15:204-206。     

A case-control study of cytochrome P450 1A1, glutathione S-transferase M1, cigarette smoking and lung cancer susceptibility (Massachusetts, United States)

Cytochrome P450 1A1 (CYP1A1) and glutathione S-transferase M1 (GSTM1)genetic polymorphisms are involved in the activation and detoxification ofchemical carcinogens found in tobacco smoke; thus they may influence hostsusceptibility to lung cancer. In this study at Massachusetts GeneralHospital (Boston, MA, USA) of 416 cases and 446 controls (mostly White) weevaluated the association between the CYP1A1 MspI and GSTM1 polymorphisms andlung cancer risk, and their interaction with cigarette smoke. The CYP1A1 MspIheterozygous genotype was present in 18 percent of cases and 16 percent ofcontrols, and one percent of cases and controls were CYP1A1 MspI homozygousvariant. The GSTM1 null genotype was detected in 54 percent of cases and 52percent of controls. After adjusting for age, gender, pack-years of smoking,and years since quitting smoking, while neither the CYP1A1 MspI heterozygousgenotype alone nor the GSTM1 null genotype alone were associated with asignificant increas e in lung cancer risk, having both genetic traits wasassociated with a twofold increase in risk (95 percent confidence interval[CI] = 1.0-3.4). Our data did not provide enough evidence for a substantialmodification of the effect of pack-years on lung cancer risk by the CYP1A1MspI and GSTM1 genotypes. However, limitations of our study preclude aconclusion about this potential interaction.     

武汉市儿童医院婴幼儿腹泻轮状病毒的VP4型别分析

目的研究武汉市儿童医院腹泻门诊A组轮状病毒VP4基因的分子流行病学特征. 方法利用聚丙烯酰胺凝胶电泳,将检测出的A组轮状病毒阳性样利用多重RT-PCR技术对VP4基因进行分型研究. 结果武汉地区793份腹泻患儿粪便样本经检测轮状病毒阳性257例,阳性率为32.4%.其中P [8]型232例(90.3%),P [4]型3例(1.2%),P [8]与P [4]混合感染15例(5.8%),尚有7例(2.7%)未能分出型别.对检测结果按采样时间、年龄和性别分布分别进行了分析. 结论武汉地区A组轮状病毒以P[8]型为主要流行基因型,患儿以6月至1岁为主,男女性别差异不大,武汉地区婴幼儿腹泻A组轮状病毒VP4基因分型研究将为轮状病毒疫苗的研制提供基础.