| 遗传性血小板疾病基因诊断的研究新进展 |
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| 引用本文： | 刘磊,王兆钺.遗传性血小板疾病基因诊断的研究新进展[J].国际输血及血液学杂志,2016(3):264-268. |
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| 作者姓名： | 刘磊 王兆钺 |
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| 作者单位： | 215006 江苏苏州,苏州大学附属第一医院,江苏省血液研究所,国家卫生计生委血栓与止血重点实验室,血液病协同创新中心 |
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| 基金项目： | 江苏省科教兴卫工程项目(ZX200102)，江苏省科技厅生命健康专项基金(BL2012005)，Science and Education Health Project of Jiangsu Province(ZX200102)，Life and Health Special Funds of Jiangsu Province's Science and Technology Bureau(BL2012005) |
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| 摘 要： | 遗传性血小板疾病是一类少见而复杂的出血性疾病,包括血小板膜糖蛋白缺陷、血小板贮存颗粒缺乏、血小板信号转导异常和血小板凝血活性异常.近十余年来,随着分子生物学技术及基因诊断技术的发展,多种遗传性血小板疾病发病的分子机制已逐渐阐明,如灰色血小板综合征是由NBEAL2基因突变导致,血小板减少症2是由于ANKRD基因5'-非翻译区(UTR)突变所导致的,Scott综合征是由TMEM16F基因突变引起,而某些疾病的发生需同时存在2种基因变异.这些研究结果对于提高遗传性疾病的诊断与治疗具有重要的意义,并为血栓疾病的防治提供了新的方向.现就近几年遗传性血小板疾病基因诊断的研究新进展进行综述.
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| 关 键 词： | 血小板疾病 遗传性疾病 先天性 诊断 基因 |
Research progness of gene diagrosis in inherited platelet disease |
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| Abstract: | Inherited platelet diseases are a group of rare and complicated bleeding disorders including platelet glycoprotein defect,granule deficiency,abnormal signal transduction and procoagulant activity.Over the past decade,with the development of molecular biology technologies and gene diagnostic technologies,molecular biology mechanisms of multiple inherited platelet disorders have gradually been clarified.The mutations of NBEAL2 gene,5'-untranslated region (UTR) of ANKRD gene and TMEM16F gene cause gray platelet syndrome,thrombocytopenia 2 and Scott syndrome,respectively.On the other hand,some other diseases are caused by two gene variation simultaneously.These progresses are important to improve the diagnosis and treatment of genetic diseases,and also provide a new direction for future prevention and treatment of thrombotic disorders.This review focuses on the gene diagnosis on inherited platelet diseases in recent years. |
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| Keywords: | Blood platelet disorders Genetic disease inhorn Diagnosis Gene |
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