GM07426

GM07426 LCL from B-Lymphocyte

Description:

BETA-THALASSEMIA
HEMOGLOBIN--BETA LOCUS; HBB

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Mutations of the Hemoglobin Loci

Alternate IDs

GM17014 [BETA-THALASSEMIA]

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Asian

Ethnicity

CHINESE

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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)

Characterizations

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

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).

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

Phenotypic Data

Remarks

Publications

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

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