D1S549等6个短串重复序列基因座在河南汉族群体的遗传多态性

目的　探讨河南汉族群体的D1S5 49、D3S175 4、D2 2S683和CSF1PO、TPOX、TH0 1基因座遗传多态性分布。方法　ACD抗凝血样采自 2 19名无血缘关系汉族个体 ,酚 氯仿法提取DNA ,应用复合扩增技术对D1S5 49等 6个短串重复序列 (STR)基因座进行扩增 ,采用高分辨率的聚丙烯酰胺凝胶电泳分离、银染法显影技术。统计各基因频率、计算杂合度、多态信息含量、个人识别概率及亲权否定概率。结果　 6个STR基因座基因频率的分布均符合Hardy Weinberg平衡 ,各基因座的杂合度分别为 0 .7964、0 .72 3 1、0 .815 9、0 .75 81、0 .65 2 3、0 .6816;非父排除概率为 0 .62 46、0 .4914、0 .65 0 1、0 .5 2 3 6、0 .40 98、0 .42 87;个人识别机率为 0 .8996、0 .8781、0 .92 3 1、0 .8896、0 .8167、0 .83 92 ;多态信息含量为 0 .72 16、0 .6994、0 .742 1、0 .7169、0 .65 17、0 .710 6。结论　D1S5 49等 6个STR基因座是一组高度多态性的遗传标记系统 ,在人类遗传学及法医学研究中具有重要意义     

Concurrent oral and genital infection with HPV DNA types 6 and 11 in a heterosexual male

Objective Detection of HPV DNA in oral and genital lesions of a heterosexual male. 4 months after oral and vaginal intercourse with a woman with vulvar warts. Passible modes of acquisition of oral HPV infection in the male sexual partner are discussed. Setting Genitourinary Medicine clinic. Methods Polymerase chain reaction amplification of genomic DNA from oral and genital lesions. HPV DNA typing by dot blot hybridization. Results HPV DNA types 6 and 11 were identified in a polypoid tongue lesion and in a penile wart from the male sexual partner. Conclusions The acquisition of oral HPV infection in the male sexual partner may have resulted from genital-oral HPV transfer, either by direct contact with vulvar warts or by digital self-inoculation.     

The relationship of gingival crevicular fluid short chain carboxylic acid concentration to gingival inflammation

Abstract Short-chain carboxylic acids (SCCA; C≤5: e.g., lactic acid, propionic acid, butyric acid) are metabolic by-products of bacterial metabolism which accumulate in the gingival crevice, and exhibit significant biological activity, including the ability to alter gene expression. It has been hypothesized that among the activities of SCCAs are their ability to contribute to gingival inflammation. This concept complements the notion that specific periodontal pathogens are the causative agents of gingival inflammation. To begin testing these 2 hypotheses, we examined the relationship between SCCA concentrations, specific putative periodontal pathogens, and gingival inflammation in medically healthy periodontally diseased subjects. We reasoned that if SCCAs and/or specific periodontal pathogens were causative gingival inflammatory agents, gingival inflammation should increase with increasing concentration of the inflammatory mediator. We also recognized that other clinical variables needed to be controlled for, and an objective quantitative assessment of gingival inflammation used. To accomplish these tasks, sites within subjects were stratified by location and pocket depth, and the following quantified: bacteria] presence; SCCA concentration: and gingival inflammation. The results indicated that gingival inflammation directly and significantly correlated with SCCA concentrations in the maxillary and mandibular molars, incisors and canines (all r≥0.47; all p≤ 0.015; too few bicuspids were available for complete analysis). The relationship between gingival inflammation and SCCA concentration was best described by a natural log relationship. Gingival inflammation did not, however, correlate positively with either the total number of specific putative periodontal pathogens, or the sum of subsets of these pathogens (?0.31 ≤r≤ 0.39; 0.08 ≤p 0.75) for any of the locations. Finally, the SCCA concentration did not correlate with the level of individual or groups of pathogens. These data, together with historical work and other preliminary data, support the hypothesis that SCCA, rather than specific putative periodontal pathogens, may be a causative agent in gingival inflammation. This work may, in part, begin to explain the apparent lack of a direct relationship between current gingival inflammation and the prediction of bacterially mediated periodontal attachment loss.     

特异性DNA倍增技术检测t-PA cDNA基因在表达细胞中的稳定性

利用特异性DNA倍增技术(polymerase chain Reaction,PCR)检测t-PA cDNA基因在表达细胞基因组中的稳定性,并对所得的PCR反应产物进行了限制性内切酶片段、分子杂交和核苷酸顺序分析等方面的研究,证实了t-PA cDNA基因已插入到表达细胞染色体中。这种方法快速、简便、灵敏度和特异性高,是检测基因工程表达细胞中cDNA基因稳定整合状况的好方法。     

A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid,in a patient with cytochrome b positive X-linked chronic granulomatous disease

Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57.     

SRY基因诊断在临床中的应用

应用聚合酶链式反应（ＰＣＲ）扩增技术，对１０例染色体核型为４６，ＸＹ和１例为４６，ＸＸ／４６，ＸＹ的性反转、睾丸女性化、两性畸形及男性生殖器发育不良的患者进行了性别决定区（ＳＲＹ）基因检测。结果表明９例４６，ＸＹ和１例４６，ＸＸ／４６，ＸＹ患者的ＳＲＹ基因存在，１例４６，ＸＹ女性患者的ＳＲＹ基因缺失。该结果表明能够用分子生物学技术对性反转、性发育异常的病因进行分析     

Subclinical pulmonary oedema and intermittent haemodialysis

It has been postulated that patients with chronic renal failure,even in the absence of cardiopulmonary symptoms, accumulateinterstitial pulmonary fluid, which is removed by haemodialysis.To test this hypothesis we used the indocyanine green (ICG)-heavywater double indicator dilution method to measure lung water,cardiac output, and central blood volume in relation to haemodialysis.Ten uraemic patients, without cardiopulmonary symptoms, wereinvestigated at the beginning and end, and 2 h after, a regulardialysis session. A group of 18 surgical patients about to undergoelective abdominal surgery served as controls. Despite normalgas exchange, central blood volume, and cardiac output at thestart of dialysis the mean (SD) lung water was significantlyhigher than in the control group [4.8 (0.9) compared with 3.6(0.7) ml/kg, P<0.001]. There was no correlation between weightgain between sessions of dialysis and the magnitude of lungwater at the start of dialysis. Lung water decreased (P <0.001)to the level of the control group in response to dialysis. Therewas no correlation between weight loss and reduction in lungwater induced by dialysis. In conclusion, we have verified thepresence of subclinical pulmonary oedema which was removed bydialysis in a group of patients with established renal failure.The variations in lung water cannot be explained by hydrostaticmechanisms alone.     

膀胱肿瘤组织中端粒酶催化亚基和c-myc的表达

目的 研究膀胱肿瘤组织中端粒酶催化亚基(hTERT)和c-myc间的表达及关系。方法 采用逆转录-聚合酶链反应(RT-PCR)法对27例膀胱肿瘤组织、16例癌旁组织和16例正常膀胱粘膜同时测定hTERT和c-myc表达,分析两指标在3种组织的表达差异和相关性。结果 TCC组织hTERT和c-myc的表达阳性率分别为100.0％(27/27)和66.7％(18/27);癌旁组织两指标的阳性率均为 37.5％,而正常膀胱粘膜分别为 0和 25.0％;hTERT和c-myc两指标在膀胱肿瘤组织中的阳性表达有相关性(P<0.01)。结论 hTERT较c-myc作为TCC的诊断指标更灵敏和特异;两指标在TCC中的阳性表达具有相关性。     

Changing the College AOD Environment for Primary Prevention

Identifying environmental factors reflected to alcohol use is important for program planning and evaluation in college alcohol and drug prevention programs. Little has been written concerning uses of data in environmental prevention efforts. This paper presents four brief interrelated case studies of how environmental modifications were used by a college alcohol prevention project to 1) change the marketing practices and service policies of a student-oriented bar, 2) alter the sales practices of a campus bookstore concerning alcohol paraphernalia, 3) to develop a campaign with the goal of reducing risk factors related to heavy drinking at private student parties, and 4) stop an unsafe bus from transporting students to bars in Mexico. Creative use of such environmental prevention approaches has potential benefit to colleges and universities concerned with the primary prevention of alcohol-related problems experienced by students.