2个脊髓小脑性共济失调3型家系临床及遗传学研究  

Clinical and genetic study of two families with spinocerebellar ataxia type 3

作　　者：桑庆庆 王春[1] 刘东亮 江波 许文芳[1] 桑道乾[1] Sang Qingqing;Wang Chun;Liu Dongliang;Jiang Bo;Xu Wenfang;Sang Daoqian(Department of Internal Neurology,the First Affiliated Hospital of Bengbu Medical College,Bengbu 233000,China)

机构地区：[1]蚌埠医学院第一附属医院神经内科,233000

出　　处：《国际遗传学杂志》2021年第5期321-325,共5页International Journal of Genetics

摘　　要：目的分析2个脊髓小脑性共济失调(spinocerebellar ataxia,SCA)家系临床特征,并筛查其致病基因。方法收集符合SCA标准的2个家系,概括患者临床特征,构建标准系谱图,应用PCR技术对致病基因的CAG三核苷酸重复数目进行序列测定并计算CAG重复次数。结果2个家系患者均诊断为SCA 3型,SCA3患者首发临床症状为行走不稳,肌肉震颤广泛存在,眼球震颤是SCA3患者不可忽视的非共济失调症状。家系中正常人CAG重复数在8~26次,患者CAG重复数在69~79次。结论SCA3患者临床症状存在异质性,且CAG重复次数也存在异质性。Objective To analyze the clinical characteristics and screen their pathogenic genes of spinocerebellar ataxia(SCA).Methods Two families conforming to SCA diagnostic criteria were collected to summarize the clinical characteristics of the patients and construct a standard family tree.PCR technology was used to sequence the number of CAG trinucleotide repeats of the pathogenic gene and calculate the number of CAG repeats.Results Both patients were diagnosed with SCA type 3.The first clinical symptom of SCA3 patients was unstable walking,muscle tremor and nystagmus are more common.The normal CAG repeats were 8~26 times and the pathogenic CAG repeats were 69~79 times.Conclusion There is heterogeneity in clinical symptoms and CAG repetition times in SCA3 patients.

关 键 词：SCA3 遗传学 PCR CAG重复数 

分 类 号：R744.7[医药卫生—神经病学与精神病学]