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NA02267 DNA from LCL

Description:

DELTA-BETA THALASSEMIA
HEMOGLOBIN--BETA LOCUS; HBB

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Mutations of the Hemoglobin Loci
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity SICILIAN
Family Member 2
Relation to Proband sister
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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

Characterizations

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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.
 

Phenotypic Data

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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

Publications

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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
 
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
 
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

External Links

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dbSNP dbSNP ID: 10503
Gene Cards HBB
Gene Ontology GO:0005344 oxygen transporter activity
GO:0005833 hemoglobin complex
GO:0006810 transport
GO:0015671 oxygen transport
NCBI Gene Gene ID:3043
NCBI GTR 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
141900 HEMOGLOBIN--BETA LOCUS; HBB
OMIM 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
141900 HEMOGLOBIN--BETA LOCUS; HBB
Omim Description HEMOGLOBIN F, HEREDITARY PERSISTENCE OF, PANCELLULAR
  HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, PANCELLULAR
  HPFH, PANCELLULAR
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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