4个脊髓小脑性共济失调家系的基因诊断与鉴别诊断  

Diagnosis and differential diagnosis of four spinocerebellar ataxia families using molecular diagnosis

作　　者：徐献群 余丹[1] 杜鹏辉[2] 彭春艳[1] 肖劲松[3] 

机构地区：[1]武汉大学中南医院检验科,武汉430071 [2]中国地质大学(武汉)医院妇产科 [3]武汉大学中南医院神经内科

出　　处：《临床血液学杂志（输血与检验）》2016年第3期448-452,共5页Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)

摘　　要：目的:探讨4个脊髓小脑性共济失调(SCA)家系的临床特征、基因诊断和鉴别诊断。方法:采用聚合酶链式反应(PCR)和琼脂糖凝胶电泳等技术对临床诊断为脊髓小脑性共济失调的4个家系8例患者及8名健康对照者进行相关SCA基因的诊断与分析,对异常等位基因片段进行DNA测序观察CAG三核苷酸重复次数,分析临床表现与基因突变的关系。结果:证实4个SCA家系分别为SCA1,SCA2,SCA3,SCA7亚型家系,4例先证者致病基因ATXN内CAG重复数分别为48次、43次、61次、63次。结论:基因检测确定4个SCA家系的亚型,其致病原因均为ATXN基因内CAG三核苷酸的重复异常扩增,基因检测有助于SCA诊断与分型。Objective：To explore the clinical characteristics and screen the genetic mutations in 4spinal cord cerebellar ataxia（SCA）families.Method：We analyzed relate SCA genes in 8patients and 8healthy controls of 4family by polymerase chain reaction（PCR）and agarose gel electrophoresis technology.The numbers of CAG repeats of SCA1,SCA2,SCA3,SCA6 and SCA7genes in abnormal allele fragments were sequenced by ABI3130 DNA sequencing machine.Result：The 4SCA families were diagnosed as SCA1,SCA2,SCA3 and SCA7subtype respectively and the CAG repeat numbers in their ATXN genes expanded to 48,43,61,63 repeats correspondingly.Conclusion：The 4SCA families were diagnosed as different SCA subtypes.CAG repeat expansions in the ATXN gene were their pathogenic cause,and genetic testing would be the effective method of definite diagnosis.

关 键 词：脊髓小脑性共济失调 基因诊断 鉴别诊断 CAG重复扩增 

分 类 号：R744[医药卫生—神经病学与精神病学]