Article
Direct detection of beta thalassemic mutations: use of biotin-labelled allele specific probes.
American journal of hematology - 1 Jun 1990
Hendy J G, Cauchi M N
Abstract excerpt
Mutations at positions beta IVS1-6, beta IVS1-110, and beta 39 of the beta globin gene are responsible for the three most common thalassemic genes in the Mediterranean population. The polymerase chain reaction (PCR) was employed to amplify a 536 base pair segment surrounding this region. Nonradioactive labelling of an oligonucleotide probe, specific for the beta IVS1-110 mutation, was achieved by incorporation of...
Topics
- Alleles
- Biotin
- Child
- Genetic Markers
- Homozygote
- Humans
- Mutation
- Thalassemia
