| 人类血小板同种抗原相关的膜糖蛋白基因多态性研究 |
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| 引用本文： | 蓝小飞,应燕玲,刘瑛,许先国,朱发明,吕杭军,严力行. 人类血小板同种抗原相关的膜糖蛋白基因多态性研究[J]. 中华医学遗传学杂志, 2011, 28(1). DOI: 10.3760/cma.j.issn.1003-9406.2011.01.009 |
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| 作者姓名： | 蓝小飞 应燕玲 刘瑛 许先国 朱发明 吕杭军 严力行 |
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| 作者单位： | 310006,杭州,浙江省血液中心输血研究所;卫生部血液安全研究重点实验室 |
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| 基金项目： | 浙江省公益性技术应用研究计划项目,浙江省医药卫生科学研究基金,浙江省医药卫生优秀青年科技人才基金,浙江省卫生高层次创新人才基金 |
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| 摘 要： | 目的 探讨人类血小板同种抗原(human platelet alloantigen,HPA)-1～17w相关的血小板膜糖蛋白基因多态性.方法 以自行设计的PCR引物特异性扩增HPA-1～17w相关的血小板膜糖蛋白基因片段,PCR产物经酶切纯化后直接进行DNA序列分析,根据序列特征确定HPA基因型和相应膜糖蛋白基因多态性.结果 通过对112名随机汉族个体的糖蛋白基因序列分析,发现13个新的单核昔酸多态性位点和1个微卫星重复序列.其中ITGB3基因上的2个变异位点1333G/A和1960G/A引起膜糖蛋白GPⅢa的V419M和E628K氨基酸改变.结论 膜糖蛋白基因具有多态性位点,可能引起膜糖蛋白结构的改变,同时可能影响现有部分HPA基因分型方法的准确性.Abstract：Objective To investigate the polymorphisms of platelet membrane glycoprotein genes related to human platelet alloantigen (HPA)-1 to 17w. Methods The DNA segments of platelet membrane glycoprotein genes related to HPA-1 to 17w were amplified using author' s designed primers. The amplification products were purified and directly sequenced to identify the HPA genotype and glycoprotein gene polymorphisms. Results Thirteen new single nucleotide polymorphisms (SNPs) and a micro-satellite sequence were found in the glycoprotein genes from the 112 random samples, in which two SNPs (1333G/Aand 1960G/A) in ITGB3 gene result in two amino acid change (V419M and E628K) on glycoprotein GPⅢ a.Conclusion New variants in platelet membrane glycoprotein genes were identified, which may lead to structure change of platelet membrane glycoprotein and affect the accuracy of partial HPA genotyping method.
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| 关 键 词： | 人类血小板同种抗源 遗传多态性 膜糖蛋白 血小板 |
Study on polymorphism of membrane glycoprotein genes related to human platelet alloantigens |
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| LAN Xiao-fei,YING Yan-ling,LIU Ying,XU Xian-guo,ZHU Fa-ming,LV Hang-jun,YAN Li-xing. Study on polymorphism of membrane glycoprotein genes related to human platelet alloantigens[J]. Chinese journal of medical genetics, 2011, 28(1). DOI: 10.3760/cma.j.issn.1003-9406.2011.01.009 |
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| Authors: | LAN Xiao-fei YING Yan-ling LIU Ying XU Xian-guo ZHU Fa-ming LV Hang-jun YAN Li-xing |
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| Abstract: | Objective To investigate the polymorphisms of platelet membrane glycoprotein genes related to human platelet alloantigen (HPA)-1 to 17w. Methods The DNA segments of platelet membrane glycoprotein genes related to HPA-1 to 17w were amplified using author' s designed primers. The amplification products were purified and directly sequenced to identify the HPA genotype and glycoprotein gene polymorphisms. Results Thirteen new single nucleotide polymorphisms (SNPs) and a micro-satellite sequence were found in the glycoprotein genes from the 112 random samples, in which two SNPs (1333G/Aand 1960G/A) in ITGB3 gene result in two amino acid change (V419M and E628K) on glycoprotein GPⅢ a.Conclusion New variants in platelet membrane glycoprotein genes were identified, which may lead to structure change of platelet membrane glycoprotein and affect the accuracy of partial HPA genotyping method. |
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| Keywords: | human platelet alloantigen genetic polymorphism membrane glycoprotein platelet |
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