GM07407

GM07407 LCL from B-Lymphocyte

Description:

BETA-THALASSEMIA
HEMOGLOBIN--BETA LOCUS; HBB

Affected:

Yes

Sex:

Male

Age:

33 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Mutations of the Hemoglobin Loci

Alternate IDs

GM17325 [BETA-THALASSEMIA]

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

ITALIAN

Family Member

Relation to Proband

spouse

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Italian; B-thalassemia: donor subject is a compound heterozygote: one allele has a T>C change at position 6 of the donor site consensus sequence of intron 1 in the HBB gene [IVS1,T>C,+6 (beta plus)]; the second allele has a splice junction mutation, a G>A change at position 1 in intron 1 [IVS1,G>A,+1 (beta zero)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

HBB

Chromosomal Location

11p15.5

Allelic Variant 1

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).

Gene

HBB

Chromosomal Location

11p15.5

Allelic Variant 2

141900.0346; BETA-ZERO-THALASSEMIA

Identified Mutation

IVS1, G>A, +1; Splice junction mutant, G to A, position 1 of IVS-1, was found by Orkin et al. (1982) in a Mediterranean patient.

Phenotypic Data

Remarks

Publications

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