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NTIS 바로가기British medical journal, v.294 no.6586 = no.6586, 1987년, pp.1511 - 1514
Kalsheker, N A , Hodgson, I J , Watkins, G L , White, J P , Morrison, H M , Stockley, R A
Specific gene probes were used to study restriction fragment length polymorphisms of the human alpha 1-antitrypsin gene. A polymorphism due to loss of a recognition site for the restriction enzyme Taq I was identified in eight of 42 patients with bronchiectasis and nine of 49 patients with pulmonary...
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1987 (Accepted 23 March 1987)
Specific gene probes were used to study restriction fragment length polymorphisms of the human a1-antitrypsin gene. A polymorphism due to loss of a recognition site for the restriction enzyme Taq I was identified in eight of 42 patients with bronchiectasis and nine of 49 patients with pulmonary emphysema, none of whom had a1-antitrypsin deficiency. Among a control group without lung disease the polymorphism was significantly less frequent, being found in only five of 101 apparently healthy blood donors. The deoxyribonucleic acid (DNA) polymorphism was also present in two of 14 unrelated patients with a1-antitrypsin deficiency, indicating a lack of association with any specific a I-antitrypsin protein phenotype Specific gene probes were used to study restriction fragment length polymorphisms of the human a1-antitrypsin gene. A polymorphism due to loss of a recognition site for the restriction enzyme Taq I was identified in eight of 42 patients with bronchiectasis and nine of 49 patients with pulmonary emphysema, none of whom had a1-antitrypsin deficiency. Among a control group without lung disease the polymorphism was significantly less frequent, being found in only five of 101 apparently healthy blood donors. The deoxyribonucleic acid (DNA) polymorphism was also present in two of 14 unrelated patients with a1-antitrypsin deficiency, indicating a lack of association with any specific a I-antitrypsin protein phenotype.
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Hodgson, I.; Kalsheker, N. DNA polymorphisms of the human alpha,-antitrypsin (AAT) gene in normal subjects and in patients with pulmonary emphysema J Med Genet 1987 10.1136/jmg.24.1.47 24 47 Hodgson I, Kalsheker N. DNA polymorphisms of the human alpha,-antitrypsin (AAT) gene in normal subjects and in patients with pulmonary emphysema. J Med Genet 1987;24:47-51.
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Accepted 15 1987 (Accepted 15 April 1987)
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