Article
Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions.
Human mutation - 1 Jan 1999
Karsten S, Voskoboeva E, Krasnopolskaja X, Bondeson M L
Abstract excerpt
We describe a novel type of complex genetic rearrangement in the iduronate-2-sulfatase (IDS) gene of a severely affected MPSII patient. Southern blot analysis indicated an intragenic deletion of exons 5 and 6. The deletion spans 5,581 bp. Sequencing of the deletion junctions revealed a complex rearrangement involving duplications and inversions. A remaining 20 bp fragment (c) from the intron 6 sequence and two...
Topics
- Base Sequence
- Blotting, Southern
- Child, Preschool
- Chromosome Inversion
- DNA
- DNA Primers
- Exons
- Gene Duplication
- Gene Rearrangement
- Humans
- Iduronate Sulfatase
- Introns
- Models, Genetic
- Molecular Sequence Data
- Mucopolysaccharidosis II