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Recent progress in the molecular genetic analysis of erythroenzymopathy
Author(s) -
Fujii Hisaichi,
Miwa Shiro
Publication year - 1990
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830340412
Subject(s) - triosephosphate isomerase , biology , aldolase a , adenosine deaminase , gene , microbiology and biotechnology , amp deaminase , enzyme , nucleotide , nucleic acid sequence , genetics , point mutation , biochemistry , isozyme , mutation
During the relatively recent period in which normal genes for most red cell enzymes have been isolated, the techniques of molecular biology have been applied to the studies of erythroenzymopathy. Single nucleotide substitutions have been identified in aldolase, triosephosphate isomerase, glucose 6‐phosphate dehydrogenase, and adenylate kinase variants by the cloning and nucleotide sequence of the patients' genes. Up to now, all of the enzyme‐deficient variants which have been investigated have been caused by point mutations. An exception is a hemolytic anemia secondary to increased adenosine deaminase (ADA) activity. Red cell ADA activity increases on the order of a hundred‐fold in affected individuals. The basic abnormality appears to result from overproduction of structurally normal enzyme due to abnormal transcriptional or translational efficiency.