Article
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Human molecular genetics - 1 Jun 1992
Steén-Bondeson M L, Dahl N, Tönnesen T, Kleijer W J, Seidlitz G, Gustavson K H, Wilson P J, Morris C P, Hopwood J J, Pettersson U
Abstract excerpt
Hunter syndrome or mucopolysaccharidoses type II (MPS-II), is a lysosomal storage disorder caused by a deficiency in the activity of the enzyme iduronate-2-sulphatase (IDS). We have investigated the occurrence of rearrangements and deletions of the IDS gene in a Southern analysis of 46 unrelated MPS-II patients of different ethnic origins using a cDNA clone containing the entire IDS gene as a probe. Structural...
Topics
- Blotting, Southern
- DNA Mutational Analysis
- DNA Probes
- Female
- Gene Rearrangement
- Humans
- Iduronate Sulfatase
- Male
- Mucopolysaccharidosis II
- Pedigree
- Phenotype