A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family.
We describe here a new frameshift mutation of β-thalassemia in a Uruguayan family with Italian ancestry [β48 (-T); HBB:c.146delT]. This frameshift results in formation of premature stop codon (TGA) 40 bp downstream and in a short unstable product that is degraded in the cell.
Departamento de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay. jdal@fmed.edu.uy
J
J
Da Luz
P
P
López
E M
EM
Kimura
D M
DM
Albuquerque
F F
FF
Costa
M
M
Sans
M F
MF
Sonati
D000328:Adult; D018389:Codon, Nonsense; D005091:Exons; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007558:Italy; D010375:Pedigree; D055550:Protein Stability; D014583:Uruguay; D044465:White People; D055544:beta-Globins / Q000032:analysis / Q000235:genetics* / Q000378:metabolism; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics* / Q000378:metabolism
D018389:Codon, Nonsense; D055544:beta-Globins