| 获得性重型再生障碍性贫血患者穿孔素基因突变检测 |
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| 引用本文： | 张剑,付蓉,王君,李丽娟,宋嘉,瞿文,王化泉,邢莉民,刘鸿,吴玉红,关晶,王国锦,王晓明,梁勇,阮二宝,刘惠,邵宗鸿. 获得性重型再生障碍性贫血患者穿孔素基因突变检测[J]. 中国实验血液学杂志, 2011, 19(2): 431-434 |
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| 作者姓名： | 张剑 付蓉 王君 李丽娟 宋嘉 瞿文 王化泉 邢莉民 刘鸿 吴玉红 关晶 王国锦 王晓明 梁勇 阮二宝 刘惠 邵宗鸿 |
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| 作者单位： | 天津医科大学总医院血液肿瘤科,天津,300052 |
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| 基金项目： | 国家自然科学基金，天津市应用基础及前沿技术研究计划，天津市科技计划项目，高等学校博士学科专项科研基金 |
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| 摘 要： | 本研究旨在探讨穿孔素(perforin)基因PRF1突变是否为获得性重型再生障碍性贫血(SAA)发病的遗传易感性基础。用聚合酶链反应(PCR)方法扩增31例SAA患者及15名正常对照者外周血单个核细胞基因组DNAPRF1外显子2(exon2)及外显子3(exon3);用双脱氧终止法测序,与GenBank报道序列核对寻找突变位点;发现突变序列克隆入M13噬菌体载体中,对所得2条染色体相应序列分别测序,以确定不同突变在染色体上的分布。结果表明:在SAA患者,发现了2处基因突变即822位C>T纯合子突变(无义突变)及907位G>A杂合子突变(Met303Val);rs885822单核苷酸多态性(SNP)位点分布病例组与对照组比较有统计学差异(p<0.05)。结论:穿孔素基因突变可能是部分SAA患者的遗传易感因素。
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| 关 键 词： | 再生障碍性贫血 获得性重型再生障碍性贫血 穿孔素 基因突变 |
Perforin Gene Mutations in Patients with Acquired Severe Aplastic Anemia |
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| ZHANG Jian,FU Rong,WANG Jun,LI Li-Juan,SONG Jia,QU Wen,WANG Hua-Quan,XING Li-Min,LIU Hong,WU Yu-Hong,GUAN Jin,WANG Guo-Jin,WANG Xiao-Min,LIANG Yong,RUAN Er-Bao,LIU Hui,SHAO Zong-Hong. Perforin Gene Mutations in Patients with Acquired Severe Aplastic Anemia[J]. Journal of experimental hematology, 2011, 19(2): 431-434 |
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| Authors: | ZHANG Jian FU Rong WANG Jun LI Li-Juan SONG Jia QU Wen WANG Hua-Quan XING Li-Min LIU Hong WU Yu-Hong GUAN Jin WANG Guo-Jin WANG Xiao-Min LIANG Yong RUAN Er-Bao LIU Hui SHAO Zong-Hong |
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| Affiliation: | ZHANG Jian,FU Rong,WANG Jun,LI Li-Juan,SONG Jia,QU Wen,WANG Hua-Quan,XING Li-Min,LIU Hong,WU Yu-Hong,GUAN Jin,WANG Guo-Jin,WANG Xiao-Min,LIANG Yong,RUAN Er-Bao,LIU Hui,SHAO Zong-HongDepartment of Hematoloy and Oncology,Tianjin Medical University General Hospital,Tianjin 300052,China |
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| Abstract: | This study was aimed to explore whether the perforin gene 1(PRF1) mutation is the basis of genetic susceptibility to pathogenesis of acquired severe aplastic anemia(SAA).DNA exon2 and exon3 of PRF1 gene in peripheral blood mononuclear cells in 31 SAA patients and 15 normal controls were amplified by PCR;the sequencing was performed by using ABI pRISM 373OXL sequencer;the mutation loci were sought through checking sequences with GenBank-reparted sequences;after the mutation sequences were found,those were cl... |
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| Keywords: | aplastic anemia acquired severe aplastic anemia perforin gene mutation |
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