International journal of clinical and experimental pathology · 2017
SPG3A gene polymorphisms in hereditary spastic paraplegia.
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Li Tian, Tu Li, Zhang Qian, Gu Ran, Wang Qian, Wang Bingjin, Yao Huan, Qu Xiang, Wang Wenqin, Tian Jinyong
Аннотация
OBJECTIVE: This study aimed to analyze the hereditary spastic paraplegia (HSP)/spastic paraplegia 3A (SPG3A) genomic structure as well as the polymorphisms in SPG3G genomic structure by comparing with the normal subjects.
METHODS: A total of 66 sporadic cases with HSP were collected from April 2014 to September 2016. Genomic DNA extraction was performed, and all coding exons and junction region in the SPG3A gene were sequenced. Genetic mutations were identified and DNA sequence alignment was performed against 80 normal subjects without blood relationship. The polymorphism in SPG3A gene was analyzed.
RESULTS: The coding sequence of the SPG3A gene consisted of 14 exons and two polymorphisms were detected at exons 2 and 3 compared with the normal subjects; one polymorphism was detected at exons 3, 4 and 6, respectively.
CONCLUSION: The two coding exons in the SPG3A gene in normal subjects were polymorphic and highly conservative. The intron consisted of 3 polymorphic coding sequences. Understanding the polymorphism and genetic mutations in the SPG3A gene will contribute to the diagnosis and treatment of HSP.
METHODS: A total of 66 sporadic cases with HSP were collected from April 2014 to September 2016. Genomic DNA extraction was performed, and all coding exons and junction region in the SPG3A gene were sequenced. Genetic mutations were identified and DNA sequence alignment was performed against 80 normal subjects without blood relationship. The polymorphism in SPG3A gene was analyzed.
RESULTS: The coding sequence of the SPG3A gene consisted of 14 exons and two polymorphisms were detected at exons 2 and 3 compared with the normal subjects; one polymorphism was detected at exons 3, 4 and 6, respectively.
CONCLUSION: The two coding exons in the SPG3A gene in normal subjects were polymorphic and highly conservative. The intron consisted of 3 polymorphic coding sequences. Understanding the polymorphism and genetic mutations in the SPG3A gene will contribute to the diagnosis and treatment of HSP.