目的研究初发系统性红斑狼疮（systemic lupus erythematosus，SLE）患者外周血淋巴细胞中细胞核因子-κB受体激活剂配体（receptor activator of nuclear factor kappa B ligand，RANKL）、护骨素（osteoprotegerin，OPG）基因mRNA的...目的研究初发系统性红斑狼疮（systemic lupus erythematosus，SLE）患者外周血淋巴细胞中细胞核因子-κB受体激活剂配体（receptor activator of nuclear factor kappa B ligand，RANKL）、护骨素（osteoprotegerin，OPG）基因mRNA的表达情况，探讨其表达水平与初发SLE患者骨质疏松的关系。方法选择初发SLE患者45例及正常对照42例，运用实时定量PCR方法检测患者外周血淋巴细胞RANKL、OPG的mRNA表达水平。采用双能X线骨密度仪分别检测患者腰椎（L1-4）和股骨近端2个部位的骨密度，单因素分析RANKL、OPG基因mRNA表达水平与SLE患者骨密度的关系。结果SLE患者RANKL、OPG基因mRNA表达水平较正常对照组明显减低（P〈0．01）；SLE患者2个部位的骨密度均低于正常对照组（P〈0．05），骨量异常发生率为28-89％，骨量异常降低的SLE患者OPG基因mRNA的表达水平比骨量正常的患者显著降低，两者间的差异有统计学意义（P〈0．01）；而RANKL基因mRNA表达水平的差异无统计学意义（P〉0．05）；OPG基因mRNA表达水平与初发SLE患者骨密度间存在正相关（r=0．461；P=0．001），即OPG表达水平越低，骨量减少越明显；而RANKL基因mRNA表达降低与初发SLE患者骨密度无明显相关性（r=-0．189，P=0．214）；初发SLE患者疾病活动度与骨量减少、RANKL及OPG基因表达水平间不存在相关性（r=0．293，P=0．138；r=-0．099，P=0．493；，=0．138，P=0．493）。结论初发SLE患者骨量减少的发病率较正常人群增高，并且初发SLE患者体内RANKL和OPG基因表达存在异常；其中OPG表达水平的降低可能与初发SLE患者的骨量减少有密切关系。展开更多
Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0....Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.展开更多
文摘目的研究初发系统性红斑狼疮（systemic lupus erythematosus，SLE）患者外周血淋巴细胞中细胞核因子-κB受体激活剂配体（receptor activator of nuclear factor kappa B ligand，RANKL）、护骨素（osteoprotegerin，OPG）基因mRNA的表达情况，探讨其表达水平与初发SLE患者骨质疏松的关系。方法选择初发SLE患者45例及正常对照42例，运用实时定量PCR方法检测患者外周血淋巴细胞RANKL、OPG的mRNA表达水平。采用双能X线骨密度仪分别检测患者腰椎（L1-4）和股骨近端2个部位的骨密度，单因素分析RANKL、OPG基因mRNA表达水平与SLE患者骨密度的关系。结果SLE患者RANKL、OPG基因mRNA表达水平较正常对照组明显减低（P〈0．01）；SLE患者2个部位的骨密度均低于正常对照组（P〈0．05），骨量异常发生率为28-89％，骨量异常降低的SLE患者OPG基因mRNA的表达水平比骨量正常的患者显著降低，两者间的差异有统计学意义（P〈0．01）；而RANKL基因mRNA表达水平的差异无统计学意义（P〉0．05）；OPG基因mRNA表达水平与初发SLE患者骨密度间存在正相关（r=0．461；P=0．001），即OPG表达水平越低，骨量减少越明显；而RANKL基因mRNA表达降低与初发SLE患者骨密度无明显相关性（r=-0．189，P=0．214）；初发SLE患者疾病活动度与骨量减少、RANKL及OPG基因表达水平间不存在相关性（r=0．293，P=0．138；r=-0．099，P=0．493；，=0．138，P=0．493）。结论初发SLE患者骨量减少的发病率较正常人群增高，并且初发SLE患者体内RANKL和OPG基因表达存在异常；其中OPG表达水平的降低可能与初发SLE患者的骨量减少有密切关系。
文摘Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.
