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CD72多态性和ITP在儿童期起病的关联性研究

发表时间:2008-02-15  浏览量:1725  下载量:562
全部作者: 许剑辉,卢士红,陶洁,周泽平,黄颖,杨仁池
作者单位: 中国医学科学院协和医科大学 血液学研究所 血液病医院;中国医学科学院协和医科大学 血液学研究所 血液病医院;中国医学科学院协和医科大学 血液学研究所 血液病医院;中国医学科学院协和医科大学 血液学研究所 血液病医院;中国医学科学院协和医科大学 血液学研究所 血液病医院;中国医学科学院协和医科大学 血液学研究所 血液病医院
摘 要: 目的:特发性血小板减少性紫癜(ITP)是一类与异常免疫功能和自身抗血小板免疫球蛋白产生相关的疾病,B细胞异常可能在ITP的发生中有重要作用。CD72是B细胞的抑制性受体,它的多态性与ITP的易感性或临床发病特点之间是否存在关联被加以分析,从而探索某些可能影响B细胞功能的遗传特性在ITP发病机制中的作用。方法:应用聚合酶链反应和聚丙烯酰胺凝胶电泳分析的方法检测了206名ITP病人和169名健康志愿者CD72第八内含子中的重复序列多态性,分析两组间及ITP病人内部CD72多态性分布差异。结果:未发现ITP的易感性和CD72的基因型之间存在直接关联。但是第八内含子中仅含一次重复的单倍体型(命名为CD72*1,含两次重复的命名为CD72*2)与ITP病人在儿童期(年龄≤14岁)就发生ITP表现显著相关(P=0.03)。该相关经病人性别和临床急慢性分型因素分别加以调整后仍有统计学显著性(P值分别为0.01和0.04)。CD72*1\\*1和*1\\*2基因型ITP病人较之CD72*2\\*2基因型病人在儿童期就发生ITP症状的优势比分别为3.09(95%CI,1.32~7.25)和1.98(95%CI,0.92~4.25)。不过未发现ITP在儿童期的易感性与CD72基因型之间有显著相关。结论:对于ITP的儿童期起病CD72*1是个危险性因素,而CD72*2是个保护性因素。
关 键 词: 医学遗传学;CD72;多态性;特发性血小板减少性紫癜
Title: CD72 Polymorphism Associated with Child-onset of Idiopathic Thrombocytopenic Purpura in Chinese Patients
Author: XU Jianhui, LU Shihong, TAO Jie, ZHOU Zeping, CHEN Zhenping, HUANG Ying, YANG Renchi
Organization: State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College
Abstract: Objectives:Idiopathic thrombocytopenic purpura (ITP) is a disease putatively relating to abnormal immune function and auto-anti-platelet immunoglobulin. B lymphocyte may play an important role in the occurrence of ITP. Whether polymorphism of CD72, an inhibitory receptor of B cells, affect the susceptibility to ITP, or associated with the clinical characteristics of ITP was examined. So that the role of some inheritance that may affect the functions of B cells in the happening of ITP was analyzed. Method:A case-control study was carried out in 206 Chinese ITP patients and 169 healthy controls. The detection of variable number of tandem repeats (VNTR) in CD72 intron 8 was performed by PCR and subsequent analysis with PAGE. Results:Direct association between CD72 genotypes and susceptibility to ITP was not found. The haplotype that contained one repeat of 13 nucleotides in intron 8 (designated as *1, and haplotype containing two repeat of 13 nucleotides in intron 8 is designated as *2) was significantly associated with child-onset (first onset age ≤ 14) in ITP patients (P=0.03) . The significance of CD72*1 allele association with early developing of ITP did not change with gender (P=0.01) or clinical diagnosis (P=0.04) adjustment. ITP patients with CD72*1\*1 and *1\*2 genotype had a 3.09 fold (95% confidence interval [CI], 1.32~7.25) and 1.98 fold (95%CI, .92~4.25) increased risk of appearing ITP manifestation at their childhood respectively. But the association between CD72 genotypes and susceptibility of children to ITP was not found. Conclusion:The haplotype CD72*1 is apparently a risk allele, while CD72*2 a protective allele for child-onset of ITP disease.
Key words: medical genetics;CD72; polymorphism; idiopathic thrombocytopenic purpura
发表期数: 2008年6月第3期
引用格式: 许剑辉,卢士红,陶洁,等. CD72多态性和ITP在儿童期起病的关联性研究[J]. 中国科技论文在线精品论文,2008,1(3):335-342.
 
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