NA07071

NA07071 DNA from Fibroblast

Description:

FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1

Affected:

Yes

Sex:

Male

Age:

22 FW (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Class

Disorders with Trinucleotide Expansions

Class

X Chromosome Markers

Quantity

10 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Kidney

Cell Type

Fibroblast

Tissue Type

Kidney

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Ethnicity

JEWISH

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Kidney biopsy; mother is an obligate carrier for fra(X); 9/50 cord blood lymphocytes showed fra(X); negative for fra(X) in kidney tissue; same patient as GM07072; mother is GM06968 Lymphoid; affected male by Southern analysis

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

FMR1

Chromosomal Location

Xq27.3

Allelic Variant 1

309550.0004; FRAGILE X MENTAL RETARDATION SYNDROME

Identified Mutation

(CGG)n EXPANSION; The usual cause of the fragile X syndrome is an expanded (CGG)n repeat in the 5-prime noncoding region of the FMR1 gene.

Phenotypic Data

Remarks

Publications

Howard-Peebles PN, Friedman JM, Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet37:956-64 1985

PubMed ID: 3863482

External Links

dbSNP

dbSNP ID: 17000

Gene Cards

FMR1

Gene Ontology

GO:0003729 mRNA binding

GO:0005625 soluble fraction

GO:0005654 nucleoplasm

GO:0005840 ribosome

GO:0005844 polysome

GO:0006397 mRNA processing

GO:0006406 mRNA-nucleus export

GO:0006810 transport

NCBI Gene

Gene ID:2332

NCBI GTR

300624 FRAGILE X SYNDROME; FXS

309550 FMRP TRANSLATIONAL REGULATOR 1; FMR1

OMIM

300624 FRAGILE X SYNDROME; FXS

309550 FMRP TRANSLATIONAL REGULATOR 1; FMR1

Omim Description

FRAGILE X MENTAL RETARDATION SYNDROME

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD