NA00149

NA00149 DNA from LCL

Description:

GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT

Affected:

No Data

Sex:

Male

Age:

47 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Carbohydrate Metabolism

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Family Member

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XY; reduced galactose-1-phosphate uridyl transferase; donor subject is heterozygous for a G>T transition at nucleotide 855 in exon 9 of the GALT gene (c.855G>T) resulting in the substitution of asparagine for lysine at codon 285 [Lys285Asn(K285N)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 1

606999.0013; GALACTOSEMIA

Identified Mutation

LYS285ASN; In a study of 30 families with classic galactosemia in Denmark, Greber-Platzer et al. (1997) found that the second common galactosemia mutation was lys285gln (K285N), accounting for 28% of GALT gene alleles.