GM06142
LCL from B-Lymphocyte
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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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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LCL from B-Lymphocyte
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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 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; 65% activity. |
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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; <1% activity. |
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 1 |
608958.0009; ADA DEFICIENCY, PARTIAL |
| Identified Mutation |
PRO297GLN; In a partially ADA-deficient child from Santo Domingo, Hirschhorn et al. (1989) demonstrated a C-to-A transversion that resulted in the replacement of a proline by a glutamine residue at codon 297. Since this mutation generated a new recognition site in exon 10 of genomic DNA for the enzyme AluI, Hirschhorn et al. (1989) could use Southern blot analysis to establish that this child was homozygous for the mutation and that the same mutation was present in another patient. The point mutation resulted in heat-lability of the enzyme.
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| Gene |
ADA |
| Chromosomal Location |
20q13.11 |
| Allelic Variant 2 |
608958.0009; ADA DEFICIENCY, PARTIAL |
| Identified Mutation |
PRO297GLN; In a partially ADA-deficient child from Santo Domingo, Hirschhorn et al. (1989) demonstrated a C-to-A transversion that resulted in the replacement of a proline by a glutamine residue at codon 297. Since this mutation generated a new recognition site in exon 10 of genomic DNA for the enzyme AluI, Hirschhorn et al. (1989) could use Southern blot analysis to establish that this child was homozygous for the mutation and that the same mutation was present in another patient. The point mutation resulted in heat-lability of the enzyme.
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| Remarks |
Phenotypically normal except for recurrent mild thrush; Santo Domingan; partial ADA deficiency; <1% of ADA activity in RBCs; normal ADA activity in peripheral blood mononuclear cells; 65% ADA activity in lymphoblasts; normal immunoglobulins; T cells 80% of normal; normal response to mitogens; donor subject is homozygous for a C>A transversion in exon 10 of the ADA gene resulting in a substitution of glutamine for proline at codon 297 [Pro297Gln (P297Q)]. |
| Hirschhorn R, Tzall S, Ellenbogen A, Hot spot mutations in adenosine deaminase deficiency. Proc Natl Acad Sci U S A87:6171-5 1990 |
| PubMed ID: 2166947 |
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| Tzall S, Ellenbogen A, Eng F, Hirschhorn R, Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus. Am J Hum Genet44:864-75 1989 |
| PubMed ID: 2567118 |
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| Hirschhorn R, Ellenbogen A, Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency. Am J Hum Genet38:13-25 1986 |
| PubMed ID: 3946419 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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