Description:
PORPHYRIA, ACUTE INTERMITTENT
HYDROXYMETHYLBILANE SYNTHASE; HMBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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Race
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Black/African American
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
609806.0004; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
ARG116TRP; In a Swedish family, Lee et al. (1990) found a C-to-T substitution in exon 8 leading to a change from arginine to tryptophan at position 116. In a screening of 28 Swedish families for the 3 previously known and the new mutation using allele-specific oligonucleotide (ASO) probes, they found one with a previously known mutation but none with the new mutation. This suggested that the mutations of the PBGD gene in Swiss AIP are heterogeneous. The same mutation was found by Gu et al. (1993) in 15 Dutch families and in 1 French family.
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| Remarks |
Paralysis; normal erythrocyte porphobilinogen deaminase activity and immunologically cross-reacting material; urine contains large amounts of PBG; donor subject is heterozygous for a C>T transition at nucleotide 346 in exon 8 of the HMBS gene (346C>T) resulting in the substitution of tryptophan for arginine at codon 116 [Arg116Trp (R116W)] |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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