Study On The Zhuang Family Of Spinocerebellar Ataxia Type 3

OBJECTIVE: To study the genetic characteristics of the Zhuang families' spinocerebellar ataxia type 3 and to explore the factors that affect the age of onset.Methods: Four groups of Guangxi patients with spinocerebellar ataxia were collected in the experimental group.There were 35 members in the control group and 30 healthy people in Guangxi Zhuang nationality.PCR and capillary electrophoresis were performed respectively.And analysis of four families and patients with symptoms before the genetic rule,the factors affecting the age of onset.Results: 1,The four Zhuang family was diagnosed as spinocerebellar ataxia type 3 by genetic testing,14 patients and 5 patients with preoptic symptoms.2,CAG abnormal number of repeated genetic instability.3,Using Pearson correlation analysis showed that patients with CAG repeat number and age of onset was not related.4,There was a positive correlation between the SARA score and the course of disease,t = 9.617,P = 0.000(P <0.05).5,There was no statistically significant difference between SARA score and age of onset and CAG number.The relationship between CAG repeat number and parental change was analyzed by Mann-Whitney test,and p = 0.444(P> 0.05).Theinheritance of maternal inheritance or maternal inheritance was related to the change of CAG repeats.Conclusion: In this study,four patients with spinal cord cerebellar ataxia type 3 were diagnosed,14 patients and 5 patients with pre-symptoms.The genetic characteristics of four SCA3 families were unstable,and the incidence of offspring was not related to the source of parental disease.The age of onset of the disease may be related to a variety of factors.