Gasparini P, Savoia A, Luisetti M, Peona V, Pignatti P F
Institute of Biological Sciences, University of Verona, Italy.
Am J Respir Cell Mol Biol. 1990 Mar;2(3):297-9. doi: 10.1165/ajrcmb/2.3.297.
The etiology of chronic obstructive pulmonary disease (COPD) is still unknown, and both genetic and environmental factors may play a role. Some clinical aspects of COPD occur similarly in cystic fibrosis (CF), particularly in adult patients. A DNA polymorphic marker in strong linkage disequilibrium with the CF locus has been used to check the hypothesis that mutations of this locus might be involved in COPD. Its allele frequencies have been found to be in equilibrium in COPD patients as well as in appropriate control subjects. The determinants possibly involved in genetic predisposition to COPD therefore do not seem to comprise CF gene mutations.
慢性阻塞性肺疾病(COPD)的病因仍不清楚,遗传和环境因素可能都起作用。COPD的一些临床特征在囊性纤维化(CF)中也有类似表现,尤其是在成年患者中。一种与CF基因座处于强连锁不平衡状态的DNA多态性标记已被用于检验该基因座突变可能与COPD有关的假说。研究发现,其等位基因频率在COPD患者以及合适的对照受试者中处于平衡状态。因此,可能参与COPD遗传易感性的决定因素似乎不包括CF基因突变。