Article
The molecular basis of beta-thalassemia in Turkey.
Human genetics - 1 May 1992
Başak A N, Ozçelik H, Ozer A, Tolun A, Aksoy M, Ağaoğlu L, Ridolfi F, Ulukutlu L, Akar N, Gürgey A
Abstract excerpt
By using oligonucleotide hybridization, restriction endonuclease analysis and direct sequencing of amplified genomic DNA, we have been able to characterize 18 different mutations in the beta-globin genes of 161 beta-thalassemia homozygotes and 107 beta-thalassemia heterozygotes from Turkey (429 beta-thalassemia chromosomes). Previous studies dealing with beta-thalassemia in Mediterranean countries have shown...
Topics
- Alleles
- Gene Frequency
- Globins
- Heterozygote
- Homozygote
- Humans
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prenatal Diagnosis