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 |
| Alternate IDs |
GM17047 [BETA-THALASSEMIA] |
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GM17376 [BETA-THALASSEMIA] |
| 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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GREEK
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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 |
141900.0367; BETA-PLUS-THALASSEMIA |
| Identified Mutation |
IVS2, C>G, +745; A C-to-G change at position 745 of IVS-2 was found in a Mediterranean patient by Orkin et al. (1982). The mutation created a new acceptor splice site.
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
141900.0360; BETA-PLUS-THALASSEMIA |
| Identified Mutation |
IVS1, T>C, +6; T-to-C change at position 6 of the donor site consensus sequence of IVS-1 (CAG-GTTGGT to CAG-GTTGGC) was found in a Mediterranean patient by Orkin et al. (1982).
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| Remarks |
Greek; B-plus-thalassemia; donor subject is a compound heterozygote with mutations in the HBB gene: one allele has a C>G change at position 745 of intron 2, detectable with Rsa I, creating a new acceptor splice site (IVS2,C>G,+745) or c.316-106C>G heterozygous; the second allele has a T>C change at position 6 of the donor site consensus sequence of intron 1 (IVS1,T>C,+6) or c.92+6T>C heterozygous; No HbS/C, No deletion. |
| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
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| 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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