DMD/BMD患者的dystrophin基因表达研究  

Investigation on the expression of dystrophin gene in patients with DMD/BMD

作　　者：郭晶晶[1,2] 贺静[1,2] 朱宝生[1,2] 王蕾[2] 杨慧[3] 李英[3] 

机构地区：[1]昆明理工大学附属医院,昆明650000 [2]云南省第一人民医院遗传诊断中心,出生缺陷与遗传病研究重点实验室,昆明650000 [3]云南省第一人民医院病理科,昆明650000

出　　处：《临床检验杂志》2016年第2期118-120,共3页Chinese Journal of Clinical Laboratory Science

基　　金：云南省应用基础研究项目(2012FB087);云南省领军人才(L-201201)

摘　　要：目的探讨杜氏进行性肌营养不良(DMD)/贝氏进行性肌营养不良(BMD)患者的dystrophin基因突变与蛋白质表达之间的关系。方法用多重连接探针扩增(MLPA)法检测14例DMD/BMD患者dystrophin基因突变,肌肉活检观察组织的形态结构特点,免疫组织化学染色检测患者腓肠肌组织中dystrophin蛋白的表达情况。结果 14例DMD/BMD患者中有3例检出dystrophin基因缺失,其余未检出基因突变。肌肉活检结果显示,14例患者均可见肌纤维大小不一,圆形化,肌纤维明显变性、坏死,不同程度再生;部分肌纤维间可见少量炎性细胞浸润,结缔组织增生。免疫组织化学染色显示,3例未表达dystrophin基因突变患者的肌纤维膜dystrophin蛋白不同程度表达减弱,其余11例患者可见肌纤维膜dystrophin蛋白质表达完全缺失。结论 MLPA联合肌肉活检及免疫组化染色可以鉴别诊断DMD/BMD,为患者的诊治和预后提供了依据。Objective To investigate the correlation of genetic mutations of dystrophin gene with its protein expression in the patients with Duchenne muscular dystrophy（ DMD） / Becker muscular dystrophy（ BMD）. Methods 14 patients with DMD / BMD were enrolled in the study. Their genetic mutations of dystrophin gene were detected by multiple ligation probe amplification（ MLPA）,and the morphological characteristics and the expression of dystrophin protein in gastrocnemius muscle were analyzed by HE staining and immunohistochemistry,respectively. Results The partial deletion of dystrophin gene was detected in 3 patients,and no mutation was detected in the other 11. HE staining revealed rounded muscle fibers in different size,the degeneration and necrosis of muslce fibers,regeneration in different degree,small amounts of inflammatory cells infiltration in muscle fibers and interstitial tissues,and the proliferation of connective tissues. Immunohistochemistry showed that the expressions of dystrophin protein in sarcolemma decreased in different degree in 3 patients with partial deletion of dystrophin gene and deleted completely in the other 11 without any mutation. Conclusion MLPA combined with muscle biopsy and immunohistochemistry may be helpful for the differential diagnosis of DMD / BMD,and may provide the evidence for the diagnosis,treatment and prognosis of the patients with DMD / BMD.

关 键 词：假肥大性肌营养不良 抗肌营养不良蛋白 免疫组化染色 多重连接依赖式探针扩增 

分 类 号：R446[医药卫生—诊断学]