| PBX1基因3'末端基因多态性rs3185695与系统性红斑狼疮发病相关研究 |
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| 引用本文： | 黄新芳,沈南,梁栋,毛寒倩,钱捷,陈顺乐,鲍春德,顾越英,王元.PBX1基因3''末端基因多态性rs3185695与系统性红斑狼疮发病相关研究[J].中华风湿病学杂志,2006,10(3):129-132. |
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| 作者姓名： | 黄新芳 沈南 梁栋 毛寒倩 钱捷 陈顺乐 鲍春德 顾越英 王元 |
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| 作者单位： | 200001,上海交通大学医学院附属仁济医院风湿病学科,上海市风湿病学研究所 |
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| 基金项目： | 国家自然科学基金重点资助项目（3000154,30471613,30271224）;国家高科技研究发展计划（863计划）基金资助项目（2002AA229101）;上海市科技发展基金资助项目（01JC14029.02QMB1404）：上海市科学技术委员会科研计划基金资助项目（03DJ14009）：霍英东基金会青年教师基金资助项目（81030） |
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| 摘 要： | 目的研究前B淋巴细胞白血病转录因子(PBX1)3’端单核苷酸多态性(SNP)与中国人系统性红斑狼疮(SLE)发病的相关性。方法对PBX1基因3’端下游区域通过测序发现SNP rs3185695, 再对发现的该SNP进行等位基因分型。以Haploview软件和延伸型传递不平衡试验(ETDT)分析SNP与中国人SLE发病的相关性。结果靠近PBX1 3’末端通过测序发现的SNP rs3185695进行家系传递不平衡检验(TDT)提示等位基因G优势传递给患者,传递:不传递(T:U)=62:41,P=0．0385。结论 PBX1基因可能为SLE的候选基因。
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| 关 键 词： | 红斑狼疮 系统性 多态性 单核苷酸 基因 连锁不平衡 |
| 收稿时间： | 2005-10-09 |
| 修稿时间： | 2005年10月9日 |
The study of PBX1 3' downstream single nucleotide polymorphisms rs3185695 in the pathogenesis of systemic lupus erytheatosus |
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| HUANG Xin-fang,SHEN Nan,LIANG Dong,MAO Han-qian,QIAN Jie,CHEN Shun-le,BAO Chun-de,GU Yue-ying,WANG Yuan.The study of PBX1 3'''' downstream single nucleotide polymorphisms rs3185695 in the pathogenesis of systemic lupus erytheatosus[J].Chinese Journal of Rheumatology,2006,10(3):129-132. |
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| Authors: | HUANG Xin-fang SHEN Nan LIANG Dong MAO Han-qian QIAN Jie CHEN Shun-le BAO Chun-de GU Yue-ying WANG Yuan |
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| Abstract: | Objective To identify the association of PBX1 3' downstream single nucleotide polymorphisms (SNP) rs3185695 with the pathogenesis of systemic lupus erytheatosus (SLE). Methods The SNP downstream PBX1 3' was detected by sequencing, which was named rs3185695 by NCBI.Then the SNP was genotyped by allelic discrimination-PCR (AD-PCR) with ABI Prism 7700 sequence detector (PE Applied Biosystems). Haploview software and extended transmited disequilibrium analysis (ETDT) were used to estimate the association between the SNP and SLE. Results The allele G of the SNP rs3185695 showed a trend of preferential transmission to the affected offsprings (t:non-t =62:41, P=0.0385). Conclusion PBX1 may be a novel candidate susceptibile gene for SLE. |
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| Keywords: | Lupus erythematosus systemic Polymorphism single nucleotide Genes Linkage disequilibrium |
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