Article
Molecular characterization of beta-thalassemia in Azerbaijan.
Human genetics - 1 Dec 1992
Cürük M A, Yüregir G T, Asadov C D, Dadasova T, Gu L H, Baysal E, Gu Y C, Ribeiro M L, Huisman T H
Abstract excerpt
We have analyzed the beta-thalassemia mutations in 99 chromosomes of 49 adults with beta-thalassemia major and of one with Hb S-beta-thalassemia, who are regular patients at a large hematology clinic in Bakü, Azerbaijan. A total of 20 different mutants were identified; three [frameshift at codon 8 (-AA); IVS-II-I (G-->A); IVS-I-110 (G-->A)] were present in about two-thirds of all chromosomes. Most alleles are the...
Topics
- Adult
- Alleles
- Azerbaijan
- Codon
- Gene Frequency
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Mutation
- beta-Thalassemia