假肥大型进行性肌营养不良的诊断与遗传分析  

Duchenne/Becker muscular dystrophy diagnosis and genetic analysis

作　　者：王敬红[1] 周艳红[1] 

机构地区：[1]唐山职业技术学院基础医学部,河北唐山063004

出　　处：《中国优生与遗传杂志》2012年第8期112-113,111,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的总结假肥大型进行性肌营养不良患者的临床特征、病因及病理变化,提高其诊治水平。方法对患者进行肌电图、磷酸肌酸激酶浓度、肌肉活体组织、智力、神经反射等项检查,收集完整的家系资料进行遗传分析,判断致病基因携带者并评估再发风险。结果得到一假肥大型进行性肌营养不良的家系,并进一步确定其X连锁隐性遗传的遗传方式,明确了患者的表型特征,总结了目前的诊治方法,给与家系中相关人员以必要的遗传指导。结论假肥大型进行性肌营养不良是抗肌萎缩蛋白基因发生突变所致,目前应用PCR的相关技术、变性高效液相色谱结合测序技术可对突变基因进行筛查,从而预防患者的出生,对该病的治疗已取得了一定的进展。Objective ： Summarize the clinical features and the causes in etiology and pathology of the Duchenne muscular dystrophy patients to improve the diagnosis and treatment. Methods ： Check the patients with EMG ; get the information of ereatine kinase concentration, muscle biopsy, intellectual and neurological reflex; collect the complete pedigree data for genetic analysis to determine gene carriers, and assess the risk of recurrence. Results ： Get the information of a Duehenne muscular dystrophy pedigrees to affirm the X - linked recessive mode of inheritance ; define phenotypic characteristics of patients ; summarize the current treatment methods and give the members of the clans the necessary genetic instructions. Conclusion： Duchenne muscular dystrophy is caused by dystrophin gene mutation. The current PCR - related technology and that combining denaturing high performance liquid chromatography with gene sequencing can screen for mutations, thus, the giving birth to the patients can be prevented and the diseases can be cured. The research has brought about some good results.

关 键 词：肌营养不良 家系调查 抗肌萎缩蛋白 突变 

分 类 号：R746.2[医药卫生—神经病学与精神病学]