通过荧光原位杂交将人类β-半乳糖苷酶-A基因定位于3p21.33。
Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization.
作者信息
Takano T, Yamanouchi Y
机构信息
Department of Hygiene, Teikyo University School of Medicine, Tokyo, Japan.
出版信息
Hum Genet. 1993 Oct;92(4):403-4. doi: 10.1007/BF01247344.
PMID:7693577
Abstract
GM1 gangliosidosis and Morquio syndrome type B (MPS IVB) are inherited lyosomal storage disorders associated with deficiency of beta-galactosidase-A (beta GALA) activity. A recombinant plasmid containing a biotinylated cDNA (2.4-kb insert) encoding human beta GALA was used to localize the enzyme locus by fluorescence in situ hybridization (FISH). The human beta GALA gene was assigned to 3p21.33 by FISH.
摘要
GM1神经节苷脂贮积症和B型莫尔基奥综合征（MPS IVB）是与β-半乳糖苷酶-A（β-GALA）活性缺乏相关的遗传性溶酶体贮积症。使用含有编码人β-GALA的生物素化cDNA（2.4kb插入片段）的重组质粒，通过荧光原位杂交（FISH）对该酶基因座进行定位。通过FISH将人β-GALA基因定位于3p21.33。
Zotero 插件