Article
A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
British journal of haematology - 1 Jan 1998
Garbarz M, Galand C, Bibas D, Bournier O, Devaux I, Harousseau J L, Grandchamp B, Dhermy D
Abstract excerpt
We studied a family with autosomal dominant hereditary spherocytosis (HS) associated with a mild spectrin deficiency. Linkage analysis using two microsatellite markers (D14S63 and D14S271) very close to the beta-spectrin gene (SPTB) showed that HS co-segregated with alleles of these microsatellit...
Topics
- Base Sequence
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger
- Spectrin
- Spherocytosis, Hereditary