Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.30.2 (
endonuclease
)
18,621
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Restriction fragment length polymorphism (RFLP) in the alpha 1-antitrypsin gene region was studied in relation to chronic
obstructive airway disease
(COAD) and pneumoconiosis. Genomic DNA of 122 studied subjects was digested with Hind III restriction
endonuclease
and hybridized with the alpha 1-antitrypsin gene probe. In eight patients with COAD an unusual 10-kb restriction fragment was found hybridizing with the probe. Three of 70 patients were homozygotes for this variant allele and 5 were heterozygotes, showing the presence of two fragments, 2.7 kb and 10 kb. The presence of 10-kb restriction fragment seems to be related to the early development of COAD in studied subjects and therefore might be used as a genetic marker of the disease.
...
PMID:Alpha 1-antitrypsin gene polymorphism related to respiratory system disease. 288 93
