GM1-gangliosidosis: Chromosome 3 assignment of theβ-galactosidase-A gene (βGALA)
GM1-gangliosidosis: Chromosome 3 assignment of theβ-galactosidase-A gene (βGALA)
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GM1-神经节苷脂沉积症：β-半乳糖苷酶-A 基因 (βGALA) 的 3 号染色体定位
DOI：
10.1007/bf01539157
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发表时间：
1979
期刊：
影响因子：
--
通讯作者：
M. Meisler
中科院分区：
文献类型：
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作者：
T. Shows;L. Scrafford;Judith A. Brown;M. Meisler
利用人鼠体细胞杂交，将编码溶酶体β-半乳糖苷酶- A （EC 3.2.1.23）的结构基因（βGALA）定位到人3号染色体上。人β-半乳糖苷酶a在具有人肝β-半乳糖苷酶a种特异性抗血清的杂交细胞中被鉴定出来。抗血清从人体组织、培养细胞和细胞杂交体中沉淀β-半乳糖苷酶a，并识别来自GM1神经节脂质沉积症患者的交叉反应物质。我们分析了从12个独立的融合实验中获得的90个主要的人鼠杂交，这些实验使用了来自9个个体的细胞。酶分离分析排除了除3号染色体外所有的βGALA染色体。16个杂交细胞的染色体和酶的一致分离表明βGALA被分配到3号染色体上；所有其他染色体都被排除在外。有证据表明GM1神经节脂质沉积症是3号染色体上这个βGALA位点突变的结果。
The structural gene (βGALA) coding for lysosomal β-galactosidase- A (EC 3.2.1.23) has been assigned to human chromosome 3 using man-mouse somatic cell hybrids. Human β-galactosidase-A was identified in cell hybrids with a species-specific antiserum to human liver β-galactosidase-A. The antiserum precipitates β-galactosidase-A from human tissues, cultured cells, and cell hybrids, and recognizes cross-reacting material from a patient with GM1 gangliosidosis. We have analyzed 90 primary man-mouse hybrids derived from 12 separate fusion experiments utilizing cells from 9 individuals. Enzyme segregation analysis excluded all chromosomes for βGALA assignment except chromosome 3. Concordant segregation of chromosomes and enzymes in 16 cell hybrids demonstrated assignment of βGALA to chromosome 3; all other chromosomes were excluded. The evidence suggests that GM1 gangliosidosis is a consequence of mutation at this βGALA locus on chromosome 3.