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Literature DB >> 7693577

Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization.

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.

Entities: Chemical Disease Gene Species

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Year: 1993 PMID： 7693577 DOI： 10.1007/bf01247344

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

7 in total

1. R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1).

Authors: E Takahashi; T Hori; P O'Connell; M Leppert; R White
Journal: Hum Genet Date: 1990-11 Impact factor: 4.132

2. Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.

Authors: Y Yamamoto; C A Hake; B M Martin; K A Kretz; A J Ahern-Rindell; S L Naylor; M Mudd; J S O'Brien
Journal: DNA Cell Biol Date: 1990-03 Impact factor: 3.311

3. Mapping of the MYC gene to band 8q24.12----q24.13 by R-banding and distal to fra(8)(q24.11), FRA8E, by fluorescence in situ hybridization.

Authors: E Takahashi; T Hori; P O'Connell; M Leppert; R White
Journal: Cytogenet Cell Genet Date: 1991

4. Cloning, sequencing, and expression of cDNA for human beta-galactosidase.

Authors: A Oshima; A Tsuji; Y Nagao; H Sakuraba; Y Suzuki
Journal: Biochem Biophys Res Commun Date: 1988-11-30 Impact factor: 3.575

5. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

Authors: D Pinkel; J Landegent; C Collins; J Fuscoe; R Segraves; J Lucas; J Gray
Journal: Proc Natl Acad Sci U S A Date: 1988-12 Impact factor: 11.205

6. Organization of the gene encoding human lysosomal beta-galactosidase.

Authors: H Morreau; E Bonten; X Y Zhou; A D'Azzo
Journal: DNA Cell Biol Date: 1991-09 Impact factor: 3.311

7. Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes.

Authors: S L Naylor; R W Elliott; J A Brown; T B Shows
Journal: Am J Hum Genet Date: 1982-03 Impact factor: 11.025

7 in total

5 in total

Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization.

1. R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1).

2. Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA.

3. Mapping of the MYC gene to band 8q24.12----q24.13 by R-banding and distal to fra(8)(q24.11), FRA8E, by fluorescence in situ hybridization.

4. Cloning, sequencing, and expression of cDNA for human beta-galactosidase.

5. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

6. Organization of the gene encoding human lysosomal beta-galactosidase.

7. Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes.

1. Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Review 2. Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Review 3. Advances in glycosaminoglycan detection.

4. Population analysis of the GLB1 gene in South Brazil.

5. Glycosaminoglycan storage disorders: a review.