Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Pharmacogenetics |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Alternate IDs |
GM17167 [APPARENTLY HEALTHY INDIVIDUAL] |
| 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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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Relation to Proband
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parent
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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 |
| |
| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
T107I; R296C; S486T; DEBRISOQUINE, POOR METABOLISM OF |
| Identified Mutation |
THR107ILE, ARG296CYS, AND SER486THR; This allelic variant is also known as CYP2D6*17 or CYP2D6(Z). Oscarson et al (Mol Pharmacol 52(6):1034-40, 1997) found that in many black African populations, the capacity for CYP2D6-dependent drug metabolism is generally reduced. A specific variant of the CYP2D6 gene (CYP2D6*17) that carries three functional mutations (T107I, R296C, and S486T) has been found to be present in Zimbabwean subjects with impaired CYP2D6-dependent hydroxylase activity. |
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| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 2 |
124030.0002; DEBRISOQUINE, POOR METABOLISM OF |
| Identified Mutation |
DEL; This allelic variant is also known as CYP2D6*5 and CYP2D6(D). In 1 of 42 poor metabolizer individuals (608902), Gough et al. (Nature 347:773-776, 1990) found homozygous deletion of the CYP2D locus. In a poor metabolizer, Gaedigk et al. (Am J Hum Genet 48:943-950, 1991) identified a homozygous 11.5-kb deletion associated with deletion of the entire CYP2D6 gene and total absence of P4502D6 protein in the liver. |
| Remarks |
Mother of a child with partial adenosine deaminase deficiency |
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