GM23709

GM23709 LCL from B-Lymphocyte

Description:

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
ANDROGEN RECEPTOR; AR

Affected:

Yes

Sex:

Male

Age:

65 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

GERMAN

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms at age 45; this subject has 51 CAG trinucleotide repeats in the first exon of the androgen receptor gene (AR)(normal range= 4-33 copies); positive family history: maternal grandfather had severe leg weakness and 3 male cousins have tested positive for SBMA (samples from family are not in repository).

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

Chromosomal Location

Xq11-q12

Allelic Variant 1

313700.0014; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED

Identified Mutation

(CAG)n EXPANSION; Studying 35 unrelated patients, La Spada et al. (1991) found an increased size of a polymorphic tandem CAG repeat (polyglutamine tract) in the coding region of the androgen receptor gene. These amplified repeats were found in none of 75 controls and segregated with the disease in 15 families. The association was not likely to be due to linkage disequilibrium because 11 different disease alleles were observed.