A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
A new beta zero-thalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSII-654 C----T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.
Cai
S P
SP
Department of Pathology, McMaster University Medical Centre, Hamilton, Toronto, Ontario, Canada.
Chui
D H
DH
Ng
J
J
Poon
A O
AO
Freedman
M H
MH
Olivieri
N F
NF
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D003596:Cytosine / Q000032:analysis; D004247:DNA / Q000032:analysis / Q000235:genetics; D004251:DNA Transposable Elements; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D013789:Thalassemia / Q000209:etiology / Q000235:genetics*
D003062:Codon; D004251:DNA Transposable Elements; D003596:Cytosine; D004247:DNA