Description:
DELTA-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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SICILIAN
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Family Member
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2
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Relation to Proband
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sister
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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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Remarks |
Sicilian; homozygous delta-beta thalassemia; the 3' breakpoint is located approximately 5 kb to the 3' side of the B-globin gene; the overall deletion comprises approximately 13 kb |
| Reyes AA, Carrera P, Cardillo E, Ugozzoli L, Lowery JD, Lin CI, Go M, Ferrari M, Wallace RB, Ligase chain reaction assay for human mutations: the Sickle Cell by LCR assay. Clin Chem43:40-4 1997 |
| PubMed ID: 8990220 |
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| Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A80:6937-41 1983 |
| PubMed ID: 6196781 |
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| Mears JG, Ramirez F, Leibowitz D, Nakamura F, Bloom A, Konotey-Ahulu F, Bank A, Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. Proc Natl Acad Sci U S A75:1222-6 1978 |
| PubMed ID: 274714 |
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