一例脊髓小脑共济失调疑似肝豆状核变性患者的基因检测分析  

The genetic analysis for a case of Spinocerebellar ataxias suspected Wilson′s disease

作　　者：周岩[1] 周永安[2] 李超[2] ZHOU Yan;ZHOU Yong-an;LI Chao(Children's Hospital of Shangxi (Women Health Centre of Shanxi ),Taiyuan 030001 China;The second hospital of Shan Xi medical university,Taiyuan,030001 China)

机构地区：[1]山西省儿童医院(妇幼保健院),太原030001 [2]山西医科大学第二医院,太原030001

出　　处：《中国优生与遗传杂志》2018年第12期29-31,50,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的应用聚合酶链式反应及Sanger测序法对一例神经系统性疾病患者进行鉴别诊断,辅助临床确诊。方法对患者进行外周血DNA提取后,使用聚合酶链式反应和Sanger测序法分析基因组DNA改变,并对其家系以及100例正常人进行DNA分析,从而辅助临床进行疾病确诊。结果基因组DNA分析发现,患者携带肝豆状核变性相关基因ATP7B的3个突变(11号外显子c.36G >A、12号外显子c.125G >A?和13号外显子c.108T >G),但是家系内成员和正常人也有携带。同时发现患者脊髓小脑共济失调相关基因ATXN3中CAG重复次数为27/57,超过正常重复次数(12-40)。结论通过基因检测技术对患者基因组DNA进行分析,结合相应临床症状,确诊该患者为3型脊髓小脑共济失调。因此,对于临床上难以鉴别的疑难病例,可以考虑使用分子生物学检测辅助诊断。Objective:Polymerase chain reaction and the Sanger sequencing were applied to the differential diagnosis in a patient with nervous systemic diseases. Methods:DNA was extracted from peripheral blood of patient and detected by polymerase chain reaction and the Sanger sequencing. The families and 100 cases of normal human were analyzed by same technology. Results:After detecting the genomic DNA,we found three mutations(c.36 G >A of 11 exon,c.125 G >A of 12 exon and c.108 T >G of 13 exon)in the ATP7 B which is the pathogenic gene of Wilson′s disease,but family members and normal person can also carry these mutations. We also found that the CAG repeat number in ATXN3 which is the pathogenic gene of Spinocerebellar ataxias is 27/57(normal repetition is 12 to 40). Conclusion:After analysis the genomic DNA of patient by genetic analysis technology,we made a definite diagnosis that the disease is the third type of Spinocerebellar ataxias. At the same time,we will consider using molecular biology detection for the clinical cases which are difficult to make a definite diagnosis.

关 键 词：肝豆状核变性 脊髓小脑共济失调 基因检测 ATP7B ATXN3 

分 类 号：R394[医药卫生—医学遗传学]