广西地区脊髓小脑性共济失调患者的基因分型研究

发布时间：2018-02-25 03:23

本文关键词： 脊髓小脑性共济失调 SCA基因 CAG重复数　出处：《广西医科大学》2014年硕士论文　论文类型：学位论文

【摘要】：目的:研究广西地区脊髓小脑性共济失调患者的发生率和基因型特征，并为基因诊断和症状前诊断提供依据。方法:1、采集120正常人及广西地区临床诊断为脊髓小脑性共济失调的20个家系46例患者及102名家系成员和12例散发患者的外周血，提取DNA进行聚合酶链反应(PCR)及琼脂糖电泳实验，片段长度分析及CAG测序方法对常见SCA1、2、3、7致病基因CAG重复数检测，以基因方法诊断各型SCA患者及症状前患者。 2、统计各型所占比例，并与其他地区文献所统计数据进行对比，了解脊髓小脑性共济失调在世界和中国的流行、分布情况。结果:通过SCA1、 SCA2、SCA3、SCA7基因的CAG重复序列分析，，确诊SCA1型3个家系4名患者及4名症状前患者，1名散发患者；确诊SCA2型1个家系2名患者及1名症状前患者，未发现散发患者；确诊SCA3型12个家系30名患者及26名症状前患者，4名散发患者。尚有4个家系未能分型，共有患者10名。SCA1型异常基因CAG重复次数为43-60次(正常人群为23-35次)，SCA2型异常基因CAG重复次数为42-55次(正常人群为20-29次)，SCA3型异常基因CAG重复次数为59-86次(正常人群为12-40次)。结论: SCA基因诊断可通过对SCA致病基因CAG重复数检测方法完成。在广西人群中SCA3为最常见的亚型；其次为SCA1，SCA2患者可能较为少见;此次研究尚未发现SCA7患者。
[Abstract]:Objective: to study the incidence and genotypic characteristics of spinal cerebellar ataxia in Guangxi and to provide evidence for gene diagnosis and presymptomatic diagnosis. Methods the peripheral blood of 120 normal subjects and 20 families with spinal cerebellar ataxia diagnosed clinically as spinal cerebellar ataxia, 102 family members and 12 sporadic patients were collected. DNA was extracted by polymerase chain reaction (PCR), agarose electrophoresis, fragment length analysis and CAG sequencing to detect the CAG repeats of the common pathogenic genes of SCA1O2O3O7, and to diagnose all types of SCA patients and presymptomatic patients by gene method. (2) to investigate the prevalence and distribution of spinal cerebellar ataxia in the world and China. Results: according to the CAG repeat analysis of SCA1, SCA2, SCA3 and SCA7 gene, 4 patients with SCA1 type in 3 families and 1 sporadic patient with pre-symptom were diagnosed, 2 patients and 1 pre-symptom patient with SCA2 type were diagnosed, and no sporadic patients were found. There were 30 patients in 12 families of SCA3 type and 4 sporadic patients in 26 patients with pre-symptom. The number of CAG repeats of the abnormal gene of SCA1 gene was 43-60 times in 10 patients (42-55 times in normal population and 20-29 times in normal population) (59-86 times in normal population (12-40 times in normal population). Conclusion: the diagnosis of SCA gene can be accomplished by detecting the CAG repeats of SCA gene. SCA3 is the most common subtype in Guangxi population, followed by SCA1 / SCA2 patients, and SCA7 patients have not been found in this study.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R744

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