关键词： asporin   fluorescence in situ hybridization mapping   linkage analysis   osteoglycin   quantitative trait loci   somatic cell hybrid mapping  

摘要： The porcine orthologues of human chromosome HSA9q22.31 genes osteoglycin (OGN) and asporin (ASPN) were mapped to porcine chromosome SSC3 using linkage analysis and a somatic cell hybrid panel. This mapping was refined to SSC3q11 using fluorescence in situ hybridization. These results confirm the existence of a small conserved synteny group between SSC3 and HSA9. Polymorphisms were revealed in both genes, including a pentanucleotide microsatellite (SCZ003) in OGN and two single nucleotide polymorphisms (AM181682.1:g.780G > T and AM181682.1:g.825T > C) in ASPN. The two genes were included in a set of markers for quantitative trait loci (QTL) mapping on SSC3 in the Hohenheim Meishan x Pietrain F-2 family. Major QTL for growth and carcass traits were centred in the ASPN-SW902 region.

关键词： 椎间盘退变   基因治疗   修复  

摘要： 大部分慢性腰痛与椎间盘的退变有关,本文就目前基因治疗椎间盘退变的研究现状及进展作一综述。

关键词： asporin   osteoarthritis   association study  

摘要： Ostearthritis (OA) is characterized by focal areas of loss of the articular cartilage in synovial joints, associated with varying degrees of osteophyte formation, subchondral bone change and synovitis. The Asporin (ASPN) gene which encodes a protein of the extracellular cartilage matrix contains a triplet repeat encoding for aspartic acid (D) within exon 2 The D14 allele was found associated with knee and hip osteoarthritis in case-control study in the Japanese population. Genotyping Greek knee CA patients for the D repeats we determined that the D15 allele could be considered a risk allele for our population. (c) 2005 OsteoArthritis Research Society International. Published by Elsevier Ltd. All rights reserved.

关键词： 椎间盘   退变   基因治疗  

摘要： 椎间盘退变导致的下腰痛、腰腿痛、颈肩、背痛等慢性疼痛,目前尚无满意的治疗方法。基因治疗作为一种新的治疗方法,可能是治疗和预防椎间盘退变性疼痛的最好方法。本文主要介绍该病基因治疗的原理及载体选择。

关键词： 椎间盘退变   脊髓疾病   基因治疗载体   非手术治疗   disease   椎间盘突出症   临床症状   disc   病变过程   蛋白聚糖  

摘要： 椎间盘退变疾病(degenerative disc disease DDD)是一种慢性病变过程,其病理过程是髓核内蛋白聚糖(aggrecan)和水分的进行性丧失.临床上可表现多种病症,如椎间盘突出症,神经根病,脊髓疾病,椎管狭窄等.给病人带来很多痛苦,占用了大量的医疗资源[1].现在的治疗手段,包括非手术治疗(如卧床休息,抗炎治疗,镇痛治疗,物理治疗)和手术治疗.主要是针对DDD的临床症状对症治疗,早期阻断进一步促使椎间盘病理改变的因素.在多数病例中,非手术治疗可以在2个月内有效的缓解症状.一旦非手术治疗失败,通常考虑手术治疗,如融合或非融合的椎间盘的摘除术.这些昂贵的骨科手术虽然成功率较高,但依然会带来诸如不愈合和感染等并发症,其临床结果很难预言.

关键词： asporin   osteoarthritis   single nucleotide polymorphism   high-resolution SNP map   association study  

摘要： Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleotide polymorphism (SNP) map within a 33.4-kb genomic region containing ASPN. A total of 19 SNPs were isolated from the region by systematic screening using 48 Japanese patients with OA: 7 SNPs in the 5' flanking region, 8 in introns, and 4 in the 3' untranslated region. Nine SNPs were novel. This high-resolution SNP map will be a useful resource for analyzing genes associated with OA and other bone and joint diseases.

关键词： 腰椎间盘退变   基因治疗   非手术治疗   治疗方法   椎间盘再生   分子生物学   医务工作者   异常改变   相关组织   运动单位  

摘要： 腰椎间盘退变及其继发的相关组织异常改变所致下腰痛是临床极为常见的病症,每年要消耗大量的人力、物力和财力.治疗方法有非手术治疗、手术治疗和介入治疗等.手术治疗会破坏脊柱运动单位的生理完整性,而且不能从根本上阻止椎间盘退变的发生和发展.因此如何在保持脊柱力学结构和生理完整性的前提下进行椎间盘退变的治疗,即在早期阻止或逆转椎间盘退变,促进椎间盘再生,是医务工作者目前集中研究的课题之一.随着分子生物学的飞速发展,采用基因治疗阻止或逆转椎间盘退变已成为有应用前景的治疗方法.

关键词： asporin   microsatellite polymorphism   osteoarthritis   Han Chinese   case control  

摘要： A genetic association of osteoarthritis (OA) and functional polymorphisms in the aspartic acid (D) repeat of the asporin gene was reported in Japanese and European Caucasians;however, the results were controversial. Our objective was to evaluate whether the D repeat polymorphism was associated with knee OA in Han Chinese. The D repeat polymorphism was genotyped in 218 patients who suffered from primary symptomatic knee OA with radiographic confirmation and in 454 age-matched controls, and the allelic association of the repeat was examined. Frequencies of the D13 and D14 alleles were similar to those of Japanese, but different from those of European Caucasians. The D14 allele was significantly over-represented in knee OA patients (P=0.0013;odds ratio 2.04;95% confidence interval 1.32-3.1.5). D14 was more frequent in early-onset patients than in late-onset patients (P=0.043) and the age at onset in patients with D14 was earlier (P=0.028;log-rank test). Thus, the association of the D14 allele with knee OA susceptibility was replicated in Han Chinese. This was the first instance that association of the OA susceptibility gene was definitely replicated between different ethnic groups.

关键词： LMP-1   椎间盘退变   重组腺病毒   髓核   蛋白多糖   定量分析   BMP   动物模型   基因治疗  

摘要： 本研究构建了LMP-1基因的重组腺病毒载体;成功的进行了人退变髓核细胞的原代培养;首次在人退变椎间盘细胞离体实验和兔退变椎间盘模型组织的活体实验中证实了LMP-1基因可以在退变髓核细胞或组织中持续大量表达,并刺激椎间盘基质蛋白多糖和重要合成代谢细胞因子BMP-2和BMP-7的产生,为基因治疗椎间盘退变开辟了新的路径;首次利用椎间盘退变动物模型定量分析了LMP-1基因在椎间盘退变病程中的变化,为椎间盘退变的发病机制研究提出了新的思考。