一非肌球蛋白重链9基因相关疾病家系患者的临床及分子生物学特点  

Clinical and molecular biological characteristics of patients in a MYH9-RD family

作　　者：张淑芳[1,2] 张应爱[2] 王顺兰[2] 邓湘东[2] 肖敬川[2] 余平[1] 

机构地区：[1]中南大学基础医学院免疫学教研室,湖南长沙410078 [2]中南大学湘雅医学院附属海口医院中心实验室,海南海口570208

出　　处：《吉林大学学报（医学版）》2011年第1期109-112,I0003,共5页Journal of Jilin University：Medicine Edition

基　　金：海南省科技厅自然科学基金资助课题(806104;309114);海南省海口市科技局重点科技项目资助课题(2006-0020;2008-0000207;2009-049-2);海南省卫生厅科研基金资助课题(2009-72)

摘　　要：目的:探讨一非肌球蛋白重链9基因相关疾病(MYH9-RD)家系的临床表型和分子生物学特性,以阐明MYH9-RD形成的分子机制。方法:通过临床评估和实验室检测对家系进行筛查,应用光学显微镜和自动血细胞计数仪对家系成员进行血小板计数及外周血细胞形态观察,应用聚合酶链反应和直接测序方法分析家系患者MYH9基因突变情况。结果:家系内MYH9-RD患者15例,所有患者均具有典型的"血小板减少、巨大血小板和粒细胞包涵体"三联症,而且都有轻至中度的出血倾向;临床表现具高度复杂性,并伴有严重的白血病、青光眼、心功能不全、转氨酶升高、血脂升高、哮喘、鼻炎及白内障等多种疾病;家系患者MYH9基因的所有外显子与侧翼区均未检测到致病性突变。结论:临床表现和实验室检测表明该家系MYH9-RD诊断成立,其临床表型复杂多样可能与家系患者MYH9基因的所有外显子与侧翼区未检测到致病性突变有关。Objective To study the clinical phenotypes and the molecular biological characteristics in a family with nonmuscle myosin heavy chain 9 related disease（MYH9-RD）and reveal the molecular pathogenesis mechanism of MYH9-RD.Methods A screen inclinding clinical and laboratory features was made for this family,the platelet count and peripheral blood morphology were observed by automatic blood cell counter and light microscope,respectively.Polymerase chain reaction and direct sequcing method were used to analyze the mutation of MYH9 gene.Results There were 15 patients with MYH9-RD in this family,all the patients not only had thrombocytopenia,giant platelets and inclusion bodies in granulocytes,but also had easy bruising and mild to moderate bleeding tendency;Moreover,some even suffered from serious phenotypes,such as leucocythemia,glaucoma,cataract,proteinuria,abnormal hepatic function,hyperlipemia and disordered action of heart etc.No pathgenic mutation was detected in the exon or franking regions of MYH9 gene of patients.Conclusion The family patients are diagnosed as MYH9-RD by clinical and laboratory features,and the complicated phenotypes of the patients are may be related to the no pathgenic mutation in the 40 exon of MYH9 gene of patients.

关 键 词：非肌球蛋白重链9基因相关疾病 临床表型 基因 突变 系谱 遗传学 

分 类 号：R596.3[医药卫生—内科学] Q75[医药卫生—临床医学]