Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

M Masuno; S Tomatsu; Y Nakashima; T Hori; S Fukuda; M Masue; K Sukegawa; T Orii

doi:10.1006/geno.1993.1266

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

Genomics. 1993 Jun;16(3):777-8. doi: 10.1006/geno.1993.1266.

Authors

M Masuno¹, S Tomatsu, Y Nakashima, T Hori, S Fukuda, M Masue, K Sukegawa, T Orii

Affiliation

¹ Department of Pediatrics, Gifu University School of Medicine, Japan.

PMID: 8325655
DOI: 10.1006/geno.1993.1266

Abstract

Plasmid clones of three independent genomic fragments of the gene for human N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4) were utilized in a fluorescence in situ suppression hybridization study to assign the locus to chromosome 16q24. Enzyme assay for GALNS in a patient with del(16)(q22.1) confirmed this finding.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Southern
Chondroitinsulfatases / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 16*
Cloning, Molecular
Humans
In Situ Hybridization, Fluorescence
Mucopolysaccharidosis IV / genetics*
Plasmids

Substances

Chondroitinsulfatases