Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Restriction endonuclease mapping analyses were made of DNA from a few members of a Macedonian family with hematological characteristics of delta beta-thalassemia, ie, microcytosis, normal HbA2 levels, and elevated levels of HbF (7% to 14%) with G gamma (average 40.5%) and A gamma T chains (average 59.5%). A large deletion of 18 to 23 kb was present with a 5' breakpoint within a 670-bp segment of DNA between the HpaI and NcoI restriction sites 5' to the delta globin gene, and a 3' breakpoint between the BamHI and HpaI restriction sites located some 9 to 13 kb 3' to the beta globin gene. This deletion is different from those present in other types of G gamma A gamma(delta beta)zero-thalassemia. The similarity of the hematological expression of these delta beta-thalassemic conditions which have somewhat comparable 5' breakpoints supports the idea that an important fetal hemoglobin-controlling region lies between the psi beta and delta globin genes.
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PMID:The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes. 287 56

The delta polypeptide chain is present in the adult hemoglobin of all higher primates except Old World monkeys. Because Old World monkeys have evolved from higher primate ancestors, it can be concluded that the ability to synthesize this polypeptide has been lost relatively recently. It is shown here that the gene for delta globin exists in two of these species, the rhesus monkey (Macaca mulatta) and the baboon (Papio papio). Restriction endonuclease fragments of monkey genomic DNA bearing the delta- and beta-globin genes were detected after hybridization of human globin cDNA probes to filter-bound primate DNAs according to the Southern method. A restriction map prepared for rhesus DNA was identical in overall organization to the map of the human region. This indicates that large deletions or additions of DNA are not responsible for the Old World monkeys' lack of delta globin.
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PMID:Silent delta-globin gene in Old World monkeys. 625 67