PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY - MEASUREMENT OF VARIANT PROTEIN IN 4 FAMILIES WITH ENZYME-DEFICIENT MEMBERS BY AN ENZYME-LINKED IMMUNOSORBENT ASSAY
- 1 January 1980
- journal article
- research article
- Vol. 32 (6) , 927-933
Abstract
By a sensitive enzyme-lined immunosorbent assay, inactive variant nucleoside phosphorylase (NP) protein could be quantitated in red cells and cultured skin fibroblasts from the probands and parents in 4 families with enzyme-deficient members. Different mutant alleles (3) were identified that, in the homozygous state, could lead to T-cell immunodeficiency. The mutant alleles formed proteins that differed from normal NP protein by their stability, catalytic activity or isoelectric charge. Sensitive biochemical techniques can demonstrate the presence of different mutations for purine NP. Any of the mutations can be responsible for a lack of purine NP and the development of the characteristic T-cell deficiency syndrome.This publication has 16 references indexed in Scilit:
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