Description:
ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY
ADENOSINE DEAMINASE; ADA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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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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Ethnicity
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!KUNG
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| adenosine deaminase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.4.4; 10-30% activity. |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 1 |
608958.0028; ADA DEFICIENCY, PARTIAL |
| Identified Mutation |
THR233ILE; In a healthy adult male of Afghanistani Kung descent, Hirschhorn et al. (1997) identified a homozygous 698C-T transition mutation of the ADA gene resulting in the amino acid change thr233ile. This mutation was found to have slightly greater enzymatic activity than the pathogenic mutation arg211cys (102700.0014). Immunologic studies done previously on the patient indicated an unstable ADA enzyme that was absent in red blood cells but present in sufficient amounts in other cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency.
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 2 |
608958.0028; ADA DEFICIENCY, PARTIAL |
| Identified Mutation |
THR233ILE; In a healthy adult male of Afghanistani Kung descent, Hirschhorn et al. (1997) identified a homozygous 698C-T transition mutation of the ADA gene resulting in the amino acid change thr233ile. This mutation was found to have slightly greater enzymatic activity than the pathogenic mutation arg211cys (102700.0014). Immunologic studies done previously on the patient indicated an unstable ADA enzyme that was absent in red blood cells but present in sufficient amounts in other cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency.
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| Remarks |
Phenotypically normal; !Kung South African; marked deficiency of red cell adenosine deaminase; 2-3% enzyme activity in RBCs, 10-12% enzyme activity in leukocytes, and 10-30% enzyme activity in cultured fibroblasts; ADA enzyme present in sufficeint amounts in cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency; enzyme has ADA 1 electrophoretic mobility; normal humoral and cellular immunity; enzyme phenotypes: 6PGD=A, ADA=1, Neutral A-glucosidase C=2; contains unstable ADA protein and 3-4 times the normal level of normal ADA mRNA; donor subject is homozygous for a C>T transition at nucleotide 698 of the ADA gene [698C>T (alternately described as 793C>T)] resulting in a substitution of isoleucine for threonine at codon 233 [Thr233Ile(T233I)]; same donor as GM03043 lymphocyte. |
| Jenkins T, Lane AB, Nurse GT, Hopkinson DA, Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung. Ann Hum Genet42:425-433 1979 |
| PubMed ID: 475331 |
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| Jenkins T, Rabson AR, Nurse GT, Lane AB, Deficiency of adenosine deaminase not associated with severe combined immunodeficiency. J Pediatr89:732-6 1976 |
| PubMed ID: 978319 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| 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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