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 |
GM17014 [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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Asian
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Ethnicity
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CHINESE
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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 Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0368; BETA-ZERO-THALASSEMIA |
| Identified Mutation |
IVS2, C>T, +654; A C-to-T change at position 654 of IVS-2 was found in a Chinese by Cheng et al. (1984).
|
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0368; BETA-ZERO-THALASSEMIA |
| Identified Mutation |
IVS2, C>T, +654; A C-to-T change at position 654 of IVS-2 was found in a Chinese by Cheng et al. (1984).
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| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
; BETA-ZERO-THALASSEMIA |
| Identified Mutation |
1-BP INS, A, BETWEEN CODONS 71 AND 72 |
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
; BETA-ZERO-THALASSEMIA |
| Identified Mutation |
1-BP INS, A, BETWEEN CODONS 71 AND 72 |
| Remarks |
Chinese; B-thalassemia; donor subject is a compound heterozygote: one allele has a C>T change at position 654 of intron 2 in the HBB gene [IVS2,C>T,+654 (beta zero)]; the second allele has a 1 bp insertion between codons 71 and 72 (insA codons71/72) |
| Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R,
Chakravarti A, Patterns of single-nucleotide polymorphisms in candidate genes for
blood-pressure homeostasis. Nat Genet22(3):239-47 1999 |
| PubMed ID: 10391210 |
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| Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH Jr, beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A81:2821-5 1984 |
| PubMed ID: 6585831 |
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