ND16281

Overview

Repository

NINDS Repository

Subcollection

Parkinsonism

Quantity

3 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Sample Source

DNA from Whole Blood

Race

White

Subject Type

case-spouse

Family Type

NUCLEAR FAMILIES - ONE AFFECTED

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Note

This material represents a finite resource (DNA from Whole Blood)

Characterizations

Gene

GBA

Chromosomal Location

1q21

Allelic Variant 1

606463.0003; GAUCHER DISEASE, TYPE I

Identified Mutation

ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population.

External Links

NCBI GTR

168600 PARKINSON DISEASE, LATE-ONSET; PD

OMIM

168600 PARKINSON DISEASE, LATE-ONSET; PD

Omim Description

PARKINSON DISEASE 1

PARKINSON DISEASE; PD

PARKINSONISM

Images

View

pedigree

Culture Protocols

Supplement

Description:

PARKINSON DISEASE

Affected:

Yes

Gender:

Male

Age:

66 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Images

Culture Protocols