Article
Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.
Human genetics - 1 May 1992
Romao L, Cash F, Weiss I, Liebhaber S, Pirastu M, Galanello R, Loi A, Paglietti E, Ioannou P, Cao A
Abstract excerpt
The high level expression of the human alpha-globin genes in erythroid tissue appears to require a set of DNaseI hypersensitive sites located upstream of the human alpha-globin gene cluster. These sequences, termed the locus control region (LCR), include two erythroid specific and a number of less restricted DNaseI hypersensitive sites. In this report we describe an individual with alpha-thalassemia associated...
Topics
- Blotting, Southern
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 16
- Cloning, Molecular
- Female
- Globins
- Humans
- Multigene Family
- Mutation
- Polymorphism, Restriction Fragment Length