广西壮族正常人群脊髓小脑性共济失调常见亚型基因研究
发布时间：2018-07-31 12:03
【摘要】：目的:对广西壮族正常人群的脊髓小脑性共济失调(SCA)常见3种亚型(SCA1,SCA2,SCA3)致病基因的三核苷酸CAG重复次数进行检测和分析,探讨其CAG重复数的正常变异范围。方法:采集广西壮族正常人群的外周抗凝血485份,提取全血基因组DNA做PCR模板,利用聚合酶链式反应及高效毛细管电泳片段分析等技术,测定不同基因型片段长度,部分标本测序验证,统计分析广西壮族正常人群SCA1,SCA2,SCA3基因三核苷酸CAG重复数。结果:在研究壮族群体中SCA1基因CAG重复数为13-34次,并集中在26次,发现17种重复次数;SCA2基因CAG重复数为20~33次,最常见为20次,发现11种重复次数;SCA3基因CAG重复数为6-38次,集中在14,19,22,27,28次,同时发现25种重复次数。结论:1.广西壮族正常人群脊髓小脑性共济失调亚型SCA1、SCA2、SCA3基因的CAG三核苷酸重复数范围分别为13-34次、17-33次,6-38次。所检测出SCA3基因CAG最小重复数为6次,为目前研究正常人群SCA3基因CAG重复数报道的最小值。2.SCA1/2/3亚型基因的CAG重复序列在广西壮族正常人群中呈现多态性,本研究补充和丰富了我国少数民族SCA常见亚型CAG三核苷酸正常重复数范围的数据。
[Abstract]:Objective: to detect and analyze the number of trinucleotide CAG repeats of the three common subtypes of (SCA) (SCA1, SCA2, SCA3) in normal subjects of Zhuang nationality in Guangxi, and to explore the range of normal variation of CAG repeats. Methods: a total of 485 samples of peripheral anticoagulant blood were collected from Zhuang nationality in Guangxi. Genomic DNA was extracted from the whole blood as PCR template. Polymerase chain reaction (PCR) and high performance capillary electrophoresis (HPCE) were used to determine the length of different genotypes. Some samples were sequenced and the CAG repeats of SCA1, SCA2, SCA3 gene were analyzed statistically. Results: the number of CAG repeats of SCA1 gene was 13-34 and 26 times in Zhuang population. The results showed that the number of CAG repeats of 17 kinds of repeats was 20 times, the most common was 20 repeats, and the number of CAG repeats of 11 kinds of repeats was 6-38 times. At the same time, 25 repetition times were found. Conclusion 1. The CAG trinucleotide repeats of SCA1, SCA2, SCA3 gene in normal subjects of Zhuang nationality in Guangxi were 13-34 times, 17-33 times, 6-38 times, respectively. The minimum number of CAG repeats of SCA3 gene was 6, which was the lowest reported number of CAG repeats of SCA3 gene in normal population. 2. The CAG repeats of SCA1 / 2 / 3 subtype gene were polymorphic in the normal population of Guangxi Zhuang nationality. This study complements and enriches the normal range of CAG trinucleotide repeats of common subtypes of SCA in ethnic minorities in China.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R744.7
[Abstract]:Objective: to detect and analyze the number of trinucleotide CAG repeats of the three common subtypes of (SCA) (SCA1, SCA2, SCA3) in normal subjects of Zhuang nationality in Guangxi, and to explore the range of normal variation of CAG repeats. Methods: a total of 485 samples of peripheral anticoagulant blood were collected from Zhuang nationality in Guangxi. Genomic DNA was extracted from the whole blood as PCR template. Polymerase chain reaction (PCR) and high performance capillary electrophoresis (HPCE) were used to determine the length of different genotypes. Some samples were sequenced and the CAG repeats of SCA1, SCA2, SCA3 gene were analyzed statistically. Results: the number of CAG repeats of SCA1 gene was 13-34 and 26 times in Zhuang population. The results showed that the number of CAG repeats of 17 kinds of repeats was 20 times, the most common was 20 repeats, and the number of CAG repeats of 11 kinds of repeats was 6-38 times. At the same time, 25 repetition times were found. Conclusion 1. The CAG trinucleotide repeats of SCA1, SCA2, SCA3 gene in normal subjects of Zhuang nationality in Guangxi were 13-34 times, 17-33 times, 6-38 times, respectively. The minimum number of CAG repeats of SCA3 gene was 6, which was the lowest reported number of CAG repeats of SCA3 gene in normal population. 2. The CAG repeats of SCA1 / 2 / 3 subtype gene were polymorphic in the normal population of Guangxi Zhuang nationality. This study complements and enriches the normal range of CAG trinucleotide repeats of common subtypes of SCA in ethnic minorities in China.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R744.7
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