NA14978
DNA from Fibroblast
Description:
MEDITERRANEAN FEVER, FAMILIAL; MEFV
FAMILIAL MEDITERRANEAN FEVER GENE; MEFV
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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SICILIAN
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Family Member
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1
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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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| Passage Frozen |
1 |
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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 |
MEFV |
| Chromosomal Location |
16p13 |
| Allelic Variant 1 |
608107.0005; FAMILIAL MEDITERRANEAN FEVER |
| Identified Mutation |
GLU148GLN; One allele carries a G>C change resulting in the missense substitution of glutamine for glutamic acid [Glu148Gln (E148Q)] in exon 2 of the MEFV gene |
| Remarks |
Clinically affected; monthly fever attacks, WBC count 20,000; ESR 60-75 mm/hr; both parents are asymptomatic; one allele carries the E148Q (Glu148Gln) mutation in the MEFV gene |
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