The nature of polymorphism of the HLA-DRB intron sequences is lineage specific

Abstract: The sequence database of HLA-DRB genes is mainly derived from mRNA analysis or has focused exclusively on the polymorphism of the 2nd exon. Little is known about the non-coding sequences of the different DRB alleles which represent about 94% of the genes. In this study we have determined the sequence of the 3' 500 bp intron 1 fragment adjacent to exon 2 in all serologically defined HLA-DRB genes and their most frequent allelic subtypes. The intron sequences turned out to be highly polymorphic. Similar to the class I introns, this variability was not characterized by random point mutations but by a highly systematic diversity reflecting the lineage-specific relationship of the HLA-DR alleles. With a few exceptions in DRB1*15, 13 and 08 as well as DRB 4 and 5, the variability mirrors the serological diversity. As well as delivering insight into the genetic relationship between the different DRB alleles, these sequences will provide an extremely valuable basis for developing advanced DRB sequencing strategies for clinical purposes.     

RENIN GENE POLYMORPHISM ASSOCIATED WITH ALDOSTERONE RESPONSIVENESS TO THE RENINANGIOTENSIN SYSTEM IN PATIENTS WITH ALDOSTERONE-PRODUCING ADENOMAS

1. Aldosterone levels in patients with unilateral aldosterone-producing adenomas may be responsive or unresponsive to the renin-angiotensin system, with the former often previously misdiagnosed as bilateral adrenal hyperplasia. 2. In tumours from patients in the responsive subgroup, renin mRNA is expressed in greater amounts than in tumours from patients in the unresponsive subgroup, or in normal adrenals. 3. We compared the frequency of four renin gene polymorphisms in peripheral blood DNA from the two subgroups and found significant associations between BglI, TaqI and HinfI restriction fragment length polymorphisms (RFLP) and aldosterone responsiveness. 4. Allelic variation in the constitutive renin gene was associated with a specific cause of hypertension.     

新疆维吾尔族慢性胃炎患者HLA-DRB1等位基因与幽门螺杆菌感染的关系

目的研究新疆维吾尔族慢性胃炎患者HLA-DRB1等位基因与幽门螺杆菌（Hp）感染的关系。方法采用幽门螺杆菌分离培养技术检测33例维吾尔族慢性胃炎患者幽门螺杆菌感染情况,采用PCR-SSP检测HLA-DRB1＊0405、HLA-DRB1＊08、HLA-DRB1＊12等位基因,并与36例汉族慢性胃炎患者进行比较。结果1）新疆维吾尔族慢性胃炎患者Hp阳性率（78.8%）显著高于汉族慢性胃炎患者（58.3%）（P〈0.05）;2）维吾尔族、汉族慢性胃炎患者Hp感染与HLA-DRB1＊0405、HLA-DRB1＊08、HLA-DRB1＊12等位基因无相关性（P〉0.05）。结论1）维吾尔族慢性胃炎患者Hp感染率高于汉族慢性胃炎患者;2）维吾尔族、汉族慢性胃炎患者Hp感染与HLA-DRB1＊0405、HLA-DRB1＊08、HLA-DRB1＊12等位基因无关。     

Analysis of clozapine response and polymorphisms of the dopamine D4 receptor gene (DRD4) in schizophrenic patients

We have examined the hypothesis that a variable number of tandem repeats in the third cytoplasmic loop of the dopamine D4 receptor influences clinical response to clozapine using a sample of 189 schizophrenic patients. Alleles of the 48-bp repeat, which range from two to ten copies in the normal human population, were analysed by the polymerase chain reaction using genomic DNA as template. Association between these alleles and response to clozapine was tested using the difference in pre-and post-treatment GAS scores as a measure of response. We found no statistically significant variation between genotypic groups and response by analysis of variance. We conclude that the variation of the number of 48-bp repeats alone does not determine response to clozapine. Larger studies are underway to determine if there is a more subtle relationship with sequence variation within the repeats or at other polymorphic sites within the gene that may provide evidence for a component of clozapine's action being at D4 receptors. © 1995 Wiley-Liss, Inc.     

146例女性不孕症的病因分析

目的 分析女性不孕的病因。方法 收集1990-2000年我院女性不孕症146例，不孕时间2年以上。结果 不孕症的主要原因是子宫因素，感染因素及内分泌失调，原发性不孕以子宫因素为主，继发性不孕则以感染因素为主。结论 女性不孕症的原因常是多因素的，必须采用综合治疗，才能提高妊娠率。     

Integrinα4在骨肉瘤中的表达与意义

Objective： To investigate the expression of integrin α4 in osteosaxcoma and significance. Methods- Forty-six patients with osteosarcoma （Enneking Ⅰ-Ⅲ） were analyzed for the expression of α4 integrin subunit using immunohistochemical method. Results： Twenty-nine （63.04%） of 46 samples demonstrated positive （＋-＋＋） integrin α4 expression. Loss expression of integrin α4 was observed in the patients with advanced Enneking stage （P=0.0040） and with metastatic disease at presentation （P=0.0158）. Integrin α4 expression correlated with cell differentiation, the level of malignancy and the invasive behavior of osteosaxcoma. Conclusion： The loss expression of integrin α4 subunit might be a predictor indicating the invasive potential of osteosarcoma and play a role in metastasis of osteosaxcoma patients.     

颅咽管瘤切除术后水钠代谢紊乱机制研究

目的探讨颅咽管瘤术后水钠代谢紊乱的原因和最佳处理方式。方法对102例经胼胝体切开穹窿间入路切除巨大颅咽管瘤的病人，记录术后尿量、血电解质、抗利尿激素（ADH）、醛固酮（ALD）、皮质醇水平，比较术后激素水平变化与水、钠代谢紊乱的关系。结果本组均出现水、钠代谢紊乱，术后2周完全恢复52例，4周基本恢复33例，6周恢复12例，需长时间人工调整电解质水平5例。术后ADH、ALD和皮质醇的不足是导致术后水钠代谢紊乱的主要原因。结论颅咽管瘤切除术后水、钠代谢紊乱与手术损伤下丘脑有关，紊乱类型与ADH、ALD和醛固酮的缺乏情况有关；及时给予相应激素及对症治疗，可获满意疗效。     

侯江红教授治疗小儿慢性湿疹亚健康状态的经验

侯江红教授擅长运用调脾和胃法调治处于亚健康状态的小儿，治疗小儿慢性湿疹，注重从“健脾和胃、消食清热”法入手，每获良效。     

大学生篮球运动员集训期间部分淋巴细胞亚群和Th1/Th2细胞因子mRNA表达变化分析

目的:探讨大负荷体能训练对大学生篮球运动员细胞免疫功能的影响。方法:14名男子大学生篮球运动员进行为期16周的集训,在训练期间分次对运动员外周血淋巴细胞亚群(CD3+、CD4+/CD8+淋巴细胞比值、NK细胞比例)和Th1/Th2细胞因子 mRNA表达进行检测。结果:在两次分别持续了6周的训练期后,运动员外周血CD3+淋巴细胞数于增加后出现显著下降,从第7周的峰值(59.74±7.18)下降至第16周的最低值(52.02±7.92)(P<0.001);CD8+细胞数第16周(31.15±6.25)与第3周(37.98±7.05)相比显著下降(P<0.05);NK细胞数从第7周的最高值(19.62±5.21)下降至第14周的最低值(14.41±7.93)(P<0.05);IL-4 mRNA表达训练后与基础值(6.56±0.71)相比显著增加,从第7周的7.04±0.35和第14周的7.30±0.25,直至第16周达到最大值7.36±0.45(P<0.05),其他指标的变化不具有统计学意义。结果提示,大负荷训练使运动员细胞免疫功能削弱,Th1/Th2平衡向Th2方向漂移。     

肺性脑病与多器官功能障碍临床分析

目的：分析43例肺性脑病与多器官功能障碍的关系，以便早期采取预见性防治措施。方法：把43例肺性脑病时伴发的功能障碍器官个数与死亡率的关系及酸碱、电解质测定进行统计列表分析，结果：肺性脑病100％并发器官功能障碍，最常受损器官：肺、心、脑、肝或肾，受损器官数目越多，病情越严重，肺性脑病时，呼酸代酸，低钠，低氯血症明显增多。结论：肺性脑病100％伴发多器官功能障碍，随功能障碍器官数目的增加，死亡率亦增加，酸碱失衡及电解质紊乱与多器官功能障碍有关。