SPG3A gene polymorphisms in hereditary spastic paraplegia

被引：0
|
作者：
Li, Tian [1 ,2 ]
Tu, Li [2 ,4 ]
Zhang, Qian [2 ]
Gu, Ran [3 ]
Wang, Qian [3 ]
Wang, Bingjin [2 ]
Yao, Huan [2 ]
Qu, Xiang [2 ]
Wang, Wenqin [2 ]
Tian, Jinyong [2 ]
机构：
[1] Zunyi Med Coll, Zunyi, Guizhou, Peoples R China
[2] Guizhou Prov Peoples Hosp, Dept Emergency, 83 Zhongshan East Rd, Guiyang 550002, Guizhou, Peoples R China
[3] Guizhou Prov Peoples Hosp, Dept Neurol, Guiyang, Guizhou, Peoples R China
[4] Guizhou Med Univ, Affiliated Hosp, Dept Emergency, Guiyang, Guizhou, Peoples R China
来源：
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY | 2017年 / 10卷 / 09期
基金：
中国国家自然科学基金;
关键词：
Hereditary spastic paraplegia; gene; polymorphism; SPG3A; AUTOSOMAL-DOMINANT; CHINESE PATIENTS; MUTATIONS; SLC33A1; LOCUS; DISEASE; COHORT; FAMILY; SPG42;
D O I：
暂无
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Objective: This study aimed to analyze the hereditary spastic paraplegia (HSP)/spastic paraplegia 3A (SP-G3A) 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.
引用
收藏
页码：9760 / 9764
页数：5
相关论文
共 50 条
  • [31] Mutational spectrum of SPG4 (SPAST), SPG3A (ATL1) genes in Russian patients with hereditary spastic paraplegia
    Kadnikova, V. A.
    Ryzhkova, O. P.
    Rudenskaya, G. E.
    Polyakov, A. V.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 432 - 433
  • [32] Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    Bürger, J
    Fonknechten, N
    Hoeltzenbein, M
    Neumann, L
    Bratanoff, E
    Hazan, J
    Reis, A
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (10) : 771 - 776
  • [33] Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    Joachim Bürger
    Nuria Fonknechten
    Maria Hoeltzenbein
    Luitgart Neumann
    Elfriede Bratanoff
    Jamilé Hazan
    André Reis
    European Journal of Human Genetics, 2000, 8 : 771 - 776
  • [34] Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
    Abel, A
    Fonknechten, N
    Hofer, A
    Dürr, A
    Cruaud, C
    Voit, T
    Weissenbach, J
    Brice, A
    Klimpe, S
    Auburger, G
    Hazan, J
    NEUROGENETICS, 2004, 5 (04) : 239 - 243
  • [35] Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
    Annette Abel
    Nuria Fonknechten
    Anne Hofer
    Alexandra Dürr
    Corinne Cruaud
    Thomas Voit
    Jean Weissenbach
    Alexis Brice
    Sven Klimpe
    Georg Auburger
    Jamilé Hazan
    Neurogenetics, 2004, 5 : 239 - 243
  • [36] An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
    Christian Beetz
    Anders O. H. Nygren
    Thomas Deufel
    Evan Reid
    Neurogenetics, 2007, 8 : 317 - 318
  • [37] SPG3A (ATL1) gene mutations in Taiwanese patients with apparently sporadic pure spastic paraplegia
    Chang, Y. Y.
    Chang, Y. C.
    Huang, C. C.
    Lu, C. S.
    Lan, M. Y.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 284 - 284
  • [38] An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
    Beetz, Christian
    Nygren, Anders O. H.
    Deufel, Thomas
    Reid, Evan
    NEUROGENETICS, 2007, 8 (04) : 317 - 318
  • [39] The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia
    Magariello, Angela
    Tortorella, Carla
    Citrigno, Luigi
    Patitucci, Alessandra
    Tortelli, Rosanna
    Mazzei, Rosalucia
    Conforti, Francesca Luisa
    Ungaro, Carmine
    Sproviero, William
    Gambardella, Antonio
    Muglia, Maria
    MUSCLE & NERVE, 2012, 45 (06) : 919 - 920
  • [40] Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia
    Pantakani, D. V. K.
    Zechner, U.
    Arygriou, L.
    Pauli, S.
    Sauter, S. M.
    Mannan, A. U.
    CLINICAL GENETICS, 2008, 73 (03) : 268 - 272
12345