Description:
BETA-THALASSEMIA
HEMOGLOBIN--BETA LOCUS; HBB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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ITALIAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0374; BETA-PLUS-THALASSEMIA |
| Identified Mutation |
-87C>G; In a Mediterranean patient, Orkin et al. (1982) found a C-to-G change at position -87. |
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
141900.0364; BETA-PLUS-THALASSEMIA |
| Identified Mutation |
IVS1, G>A, +110; A G-to-A change at position 110 of IVS-1 was found in a Mediterranean patient by Spritz et al. (1981) and Westaway and Williamson (1981). The mutation created a new splice acceptor site. Kaplan et al. (1990) studied the molecular basis of beta-thalassemia minor, which has a frequency of about 1% among French Canadians residing in Portneuf County of Quebec Province. They showed that there were 2 different beta-thalassemia mutations segregating in the population: an RNA processing mutation involving nucleotide 110 of IVS-1 on haplotype 1 and a point mutation leading to chain termination through a nonsense codon at position 39 (141900.0312), occurring on haplotype 2.
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| Remarks |
Italian; B-plus-thalassemia: donor subject is a compound heterozygote: one allele has a C>G change at position -87 in the HBB gene (-87C>G); the second allele has a G>A change at position 110 of intron 1 (IVS1,G>A,+110) |
| Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ, Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature296:627-31 1982 |
| PubMed ID: 6280057 |
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