Description:
ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6
HEMOGLOBIN--BETA LOCUS; HBB
FACTOR V DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
F5 |
| 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.) |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0225; HEMOGLOBIN POTOMAC |
| Identified Mutation |
GLU101ASP; Charache et al. [Blood 51: 331-338 (1978)] reported that blood from a woman with unexplained erythrocytosis had increased oxygen affinity, but no abnormality could be detected by electrophoresis or chromatography of her hemolysate. Separation of the tryptic peptides of her beta chains disclosed two half-sized peaks in the regions of beta T-11. The faster of these was abnormal, with the structure beta 101 Glu replaced by Asp. The new hemoglobin was called "Potomac." |
| Remarks |
Elevated red cell mass; active erythropoiesis; high affinity hemoglobin; the donor subject carries the hemoglobin Potomac mutation [GLU101ASP (E101D) in the HBB gene; the donor subject is heterozygous for a guanine-to-adenine substitution at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) ]. |
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