GM14650

GM14650 LCL from B-Lymphocyte

Description:

HEMOCHROMATOSIS; HFE
FACTOR V DEFICIENCY
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS

Affected:

No

Sex:

Female

Age:

21 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Metal Metabolism

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

sister

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically normal; affected brother is GM14640 and affected father is GM14646; serum ferritin 101 ng/ml; serum iron 131 mcg/dl; compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene; heterozygous for a guanine-to-adenine substitution at nucleotide 1691 of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) or G1691A].

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

HFE

Chromosomal Location

6p22.2

Allelic Variant 1

613609.0001; HEMOCHROMATOSIS

Identified Mutation

CYS282TYR; A missense mutation caused by a G-to-A transition at nucleotide position 845 results in a cysteine to tyrosine transition at codon position 282 [cys282tyr (C282Y)] in the HFE gene.

Gene

Chromosomal Location

1q23

Allelic Variant 1

227400.0001; THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN

Identified Mutation

20009404T>C; Bertina et al. [Nature 369: 64-67 (1994)] identified a mutation in the F5 gene as the basis of deficiency of the cofactor of activated protein C in a family with APC resistance and proneness to thrombosis. In 2 patients classified as homozygous for the deficiency of the cofactor, they found homozygosity for a guanine-to-adenine substitution at nucleotide 1691. This mutation predicted the replacement of arg506 (CGA) by gln (CAA). They referred to the mutation as FV Q506 or FV Leiden. (This mutation is also known as R506Q, using the single letter symbols for the amino acid change. It is also known as G1691A, or, to avoid confusion of the single letter symbol for nucleotides with similar symbols for amino acids, 1691G-A.)

Gene

HFE

Chromosomal Location

6p22.2

Allelic Variant 2

613609.0002; HEMOCHROMATOSIS

Identified Mutation

c.187C>G (p.HIS63ASP); A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene.

Phenotypic Data

Remarks

Publications

Bao YP, Huber M, Wei TF, Marla SS, Storhoff JJ, Müller UR, SNP identification in unamplified human genomic DNA with gold nanoparticle probes Nucleic acids research33:e15 2005

PubMed ID: 15659576