RGD Reference Report - The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. - Rat Genome Database

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The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population.

Authors: Pirastu, M  Galanello, R  Doherty, MA  Tuveri, T  Cao, A  Kan, YW 
Citation: Pirastu M, etal., Proc Natl Acad Sci U S A. 1987 May;84(9):2882-5.
RGD ID: 1600575
Pubmed: PMID:3033668   (View Abstract at PubMed)
PMCID: PMC304764   (View Article at PubMed Central)

The predominant beta-thalassemia in Sardinia is the beta 0 type in which no beta-globin chains are synthesized in the homozygous state. We determined the beta-thalassemia mutations in this population by the oligonucleotide-probe method and defined the chromosome haplotypes on which the mutation resides. The same beta 39(CAG----TAG) nonsense mutation was found on nine different chromosome haplotypes. Although this mutation may have arisen more than once, the multiple haplotypes could also be generated by crossing over and gene conversion events. These findings underscore the frequency of mutational events in the beta-globin gene region.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
beta thalassemia  IAGP 1600575DNA:nonsense mutation and haplotypes: :p.Q39X (human)RGD 
beta thalassemia  ISOHBB (Homo sapiens)1600575DNA:nonsense mutation and haplotypes: :p.Q39X (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hbb  (hemoglobin subunit beta)

Genes (Homo sapiens)
HBB  (hemoglobin subunit beta)

Objects referenced in this article
Gene HBG1 hemoglobin subunit gamma 1 Homo sapiens
Gene Hbb-b1 hemoglobin, beta adult major chain Mus musculus
Gene Hbb-bh1 hemoglobin Z, beta-like embryonic chain Mus musculus
Gene Hbg1 hemoglobin subunit gamma 1 Rattus norvegicus

Additional Information