[New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX].
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.
Kynclová
E
E
Hemato-onkologická klinika FN a LF UP, Olomouc.
Divoký
V
V
Kovaríková
L
L
Melichárková
R
R
Indráková
J
J
Divoká
M
M
Hammerová
T
T
Sakalová
A
A
Hudecek
J
J
Indrák
K
K
D000483:Alleles; D018388:Codon, Terminator / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000235:genetics*
D018388:Codon, Terminator; D005914:Globins