| Fechtner综合征异常家系的临床与分子缺陷 |
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| 引用本文： | 杨惊,华宝来,王书杰,葛昌文,范连凯,韩晔华,赵永强. Fechtner综合征异常家系的临床与分子缺陷[J]. 协和医学杂志, 2010, 1(2): 171-175 |
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| 作者姓名： | 杨惊 华宝来 王书杰 葛昌文 范连凯 韩晔华 赵永强 |
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| 作者单位： | 1.中国医学科学院 北京协和医学院 北京协和医院 急诊科, 北京 100730 |
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| 基金项目： | 卫生行业科研专项基金(200802031) |
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| 摘 要： | 目的 分析一先天性血小板减少症家系的临床、实验室特点, 并探讨其分子发病机制。 方法 收集该家系成员的临床资料, 采集先证者及其家系成员的静脉血, 分别进行全自动及人工血小板计数; 显微镜下观察血小板形态; 流式细胞术分析血小板膜蛋白; 透射电镜观察中性粒细胞胞浆包涵体。聚合酶链反应扩增非肌性肌球蛋白重链9基因(non-muscle myosin heavy chain9gene, MYH9)的40个外显子, 分析PCR产物的核苷酸序列, 并直接测序确定突变位点。 结果 镜下观察外周血涂片巨大血小板占90%以上, 血小板膜糖蛋白(CD41、CD61、CD42a、CD42b)均在正常范围内, 血小板功能正常; 中性粒细胞胞浆透射电镜可见无包膜分隔的包涵体, MYH9基因38号外显子第5521位核苷酸存在G→A杂合突变(GAG→AAG), 从而导致其编码的非肌性肌球蛋白重链A(NMMHC2A)第1841位谷氨酸变为赖氨酸, 正常对照及该家系正常者未见此突变。 结论 MYH9基因点突变并伴有血小板减少及巨大血小板是Fechtner综合征的主要特征。
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| 关 键 词： | Fechtner综合征 血小板 基因 包涵体 |
| 收稿时间： | 2010-07-09 |
Fechtner Syndrome in a Chinese Family:A Case Report and Literature Review |
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| YANG Jing,HUA Bao-lai,WANG Shu-jie,GE Chang-wen,FAN Lian-kai,HAN Ye-hua,ZHAO Yong-qiang. Fechtner Syndrome in a Chinese Family:A Case Report and Literature Review[J]. Medical Journal of Peking Union Medical College Hospit, 2010, 1(2): 171-175 |
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| Authors: | YANG Jing HUA Bao-lai WANG Shu-jie GE Chang-wen FAN Lian-kai HAN Ye-hua ZHAO Yong-qiang |
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| Affiliation: | 1.Department of Emergency, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China2.Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China3.Electronic Microscope Room, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China |
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| Abstract: | Objective To analyze the clinical and laboratory abnormalities and genetic defect of inherited thrombocytopenia in a Chinese family. Methods We collected the clinical data and blood samples of a proband and his family members,examined the characteristic morphological features of platelets and leukocytes on blood smears with Wright's-Giemsa staining,observed the ultrastructure of platelet and leukocyte under electron microscope,and detected expression of platelet membrane protein by flow cytometry. Genomic D... |
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| Keywords: | Fechtner syndrome platelet gene inclusion |
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