Serine proteinase inhibitors on chromosome 14 and the genetics of familial chronic obstructive airways disease.
Environmental and genetic factors contribute to familial chronic obstructive airways disease. The genetic component could be polygenic or in some families be associated with one or two major genes. It is assumed that most cases of familial chronic obstructive airways disease are polygenic, but this conclusion is based on insufficient data. The use of linkage analysis using DNA probes for specific genes that may have a direct role in the disease process should facilitate our understanding of the genetics. Genetic deficiency of alpha1-antitrypsin is associated with predisposition to pulmonary emphysema. In the absence of alpha 1-antitrypsin deficiency I suggest that a study of serine-proteinase inhibitors on chromosome 14 may identify a significant proportion of families where only one major gene is important.
Kalsheker
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Department of Medical Biochemistry, University of Wales College of Medicine, Royal Infirmary, Cardiff, UK.
D002883:Chromosomes, Human, Pair 14; D008040:Genetic Linkage; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000235:genetics* / Q000378:metabolism; D008957:Models, Genetic; D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin