Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype

J Engelen; A Hamers; C Schrander-Stumpel; H Mulder; B Poorthuis

doi:10.1159/000133338

Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype

Cytogenet Cell Genet. 1992;60(3-4):208-9. doi: 10.1159/000133338.

Authors

J Engelen¹, A Hamers, C Schrander-Stumpel, H Mulder, B Poorthuis

Affiliation

¹ Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.

PMID: 1505217
DOI: 10.1159/000133338

Abstract

Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21----qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33----qter.

MeSH terms

Aspartylglucosaminuria
Aspartylglucosylaminase / genetics*
Aspartylglucosylaminase / metabolism
Cells, Cultured
Chromosome Deletion*
Chromosomes, Human, Pair 4*
Female
Heterozygote
Humans
Karyotyping
Lysosomal Storage Diseases / genetics*
Male

Substances

Aspartylglucosylaminase