Vnitr Lek 1999, 45(3):151-154
[New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX].
- Hemato-onkologická klinika FN a LF UP, Olomouc.
Klíčová slova: Alleles; Codon, Terminator, genetics, ; Exons, genetics, ; Female; Frameshift Mutation; Globins, genetics, ; Haplotypes; Heterozygote; Humans; Male; Middle Aged; Pedigree; Phenotype; Sequence Analysis, DNA; beta-Thalassemia, genetics,
The authors describe a newly identified beta0-thalassaemic mutation found in two subjects from two generations of a Slovak family. The beta0-thalassaemic allele developed by insertion of one nucleotide (+G, CD 7/8) into the first exon of the beta-globin gene. The mutation causes a shift of the open globin reading frame which leads to the development of a terminal codon in codon 22. The thalassaemic allele is associated with the mediterranean haplotype IX. The mutation has in both heterozygotes the phenotype of beta0-thalassaemia minor with a slightly elevated level of HbF.
Keywords: Alleles; Codon, Terminator /genetics/; Exons /genetics/; Female; Frameshift Mutation; Globins /genetics/; Haplotypes; Heterozygote; Humans; Male; Middle Aged; Pedigree; Phenotype; Sequence Analysis, DNA; beta-Thalassemia /genetics/
Zveřejněno: 1. březen 1999 Zobrazit citaci
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Kynclová E, Divoký V, Kovaríková L, Melichárková R, Indráková J, Divoká M, et al.. [New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX]. Vnitr Lek. 1999;45(3):151-154.