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通过场反转凝胶电泳证实与桑德霍夫病相关的常染色体50千碱基缺失。

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.

作者信息

Bikker H, van den Berg F M, Wolterman R A, de Vijlder J J, Bolhuis P A

机构信息

Department of Experimental Medicine, Academic Medical Center, Amsterdam, The Netherlands.

出版信息

Hum Genet. 1989 Feb;81(3):287-8. doi: 10.1007/BF00279006.

DOI:10.1007/BF00279006
PMID:2921040
Abstract

Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysis, this deletion was masked by hybridization of bands from the other allele.

摘要

采用脉冲场反转凝胶电泳（FIGE）分析经SfiI酶切的染色体DNA，以证实两名明显无亲缘关系的桑德霍夫病患者中，编码人己糖胺酶β亚基（位于5q13的HEXB）的基因的一个等位基因存在50kb的缺失。在传统的电泳限制性分析中，该缺失被另一个等位基因的条带杂交所掩盖。

相似文献

1
Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.通过场反转凝胶电泳证实与桑德霍夫病相关的常染色体50千碱基缺失。
Hum Genet. 1989 Feb;81(3):287-8. doi: 10.1007/BF00279006.
2
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.人类β-己糖胺酶β链编码基因中与桑德霍夫病相关的50千碱基缺失的分布与特征
Hum Genet. 1990 Aug;85(3):327-9. doi: 10.1007/BF00206756.
3
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.桑德霍夫病中一种Alu型缺失突变的结构与分布
J Clin Invest. 1990 Nov;86(5):1524-31. doi: 10.1172/JCI114871.
4
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.在30例Sandhoff病患者中的15例中，HEXB的一个或两个等位基因的5'区域缺失。
Hum Genet. 1992 Nov;90(3):328-9. doi: 10.1007/BF00220096.
5
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.编码人β-氨基己糖苷酶β亚基的cDNA克隆的分离
Proc Natl Acad Sci U S A. 1985 Feb;82(4):1184-8. doi: 10.1073/pnas.82.4.1184.
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Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.阿根廷的桑德霍夫病：HEXB基因中剪接位点突变的高频率以及杂合子检测中基于酶和DNA检测之间的相关性。
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GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.西班牙的 GM2 神经节苷脂贮积症：34 例泰萨二氏症和 14 例桑德霍夫病患者 HEXA 和 HEXB 基因分析。
Gene. 2012 Sep 10;506(1):25-30. doi: 10.1016/j.gene.2012.06.080. Epub 2012 Jul 10.
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Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.一名患有婴儿型桑德霍夫病的患者的DNA中存在HEXB基因的两个小缺失突变。
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[Lysosome disease--Sandhoff disease].[溶酶体疾病——桑德霍夫病]
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Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.过早终止密码子对婴儿型桑德霍夫病mRNA水平的影响。
Hum Mol Genet. 1994 Jan;3(1):139-45. doi: 10.1093/hmg/3.1.139.

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A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.成年桑德霍夫病患者常见的β-己糖胺酶基因突变。

本文引用的文献

1
Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis.通过正交交变电场凝胶电泳从酵母中分离染色体DNA分子。
Nucleic Acids Res. 1984 Jul 25;12(14):5647-64. doi: 10.1093/nar/12.14.5647.
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Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.人类甲状腺球蛋白基因中限制酶切位点多态性异常稀少。一项连锁研究提示缺陷性甲状腺球蛋白等位基因呈常染色体显性遗传。
Hum Genet. 1984;67(3):301-5. doi: 10.1007/BF00291357.
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Characterization of five partial deletions of the factor VIII gene.
Hum Genet. 1995 Oct;96(4):417-22. doi: 10.1007/BF00191799.
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Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.桑德霍夫病中一种Alu型缺失突变的结构与分布
J Clin Invest. 1990 Nov;86(5):1524-31. doi: 10.1172/JCI114871.
5
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.人类β-己糖胺酶β链编码基因中与桑德霍夫病相关的50千碱基缺失的分布与特征
Hum Genet. 1990 Aug;85(3):327-9. doi: 10.1007/BF00206756.
6
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.在30例Sandhoff病患者中的15例中，HEXB的一个或两个等位基因的5'区域缺失。
Hum Genet. 1992 Nov;90(3):328-9. doi: 10.1007/BF00220096.
凝血因子VIII基因五个部分缺失的特征分析
Proc Natl Acad Sci U S A. 1987 Jun;84(11):3772-6. doi: 10.1073/pnas.84.11.3772.
4
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.类固醇硫酸酯酶cDNA的克隆与表达以及类固醇硫酸酯酶缺乏症中缺失的频繁发生：对X-Y互换的影响
Cell. 1987 May 22;49(4):443-54. doi: 10.1016/0092-8674(87)90447-8.
5
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).婴儿型和少年型桑德霍夫病（O型变异GM2神经节苷脂沉积症）中的分子异质性
J Biol Chem. 1986 Sep 25;261(27):12680-5.
6
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.贝克型和杜兴型 muscular dystrophy患者DNA缺失分析
Nature. 1986;322(6074):73-7. doi: 10.1038/322073a0.
7
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.成人桑德霍夫病中的神经节苷脂蓄积、己糖胺酶不稳定性及尿寡糖
Neurology. 1987 Jan;37(1):75-81. doi: 10.1212/wnl.37.1.75.
8
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.通过场反转凝胶直接检测超过50%的杜兴氏肌营养不良症突变。
Nature. 1987;329(6140):640-2. doi: 10.1038/329640a0.
9
Analysis and isolation of cytomegalovirus DNA by field inversion gel electrophoresis.应用脉冲场凝胶电泳技术分析及分离巨细胞病毒DNA
J Gen Virol. 1988 Mar;69 ( Pt 3):699-704. doi: 10.1099/0022-1317-69-3-699.
10
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.编码人β-氨基己糖苷酶β亚基的cDNA克隆的分离
Proc Natl Acad Sci U S A. 1985 Feb;82(4):1184-8. doi: 10.1073/pnas.82.4.1184.