Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài:Modifier genes and variation in cystic fibrosi. | Available online http content 2 3 125 Commentary Modifier genes and variation in cystic fibrosis Mitchell L Drumm Department of Pediatrics Department of Genetics and the Institute for Human Genetics Case Western Reserve University Cleveland Ohio USA Correspondence Mitchell L Drumm Department of Pediatrics Case Western Reserve University 830 BRB 10900 Euclid Avenue Cleveland OH 44I06-4948 USA. Tel 1 216 368 6893 fax 1 216 368 4223 e-mail mxd34@ o 3 I Received 15 January 2001 Revisions requested 26 January 2001 Revisions received 27 February 2001 Accepted 27 February 2001 Published 23 March 2001 Respir Res 2001 2 125-128 2001 BioMed Central Ltd Print ISSN 1465-9921 Online ISSN 1465-993X Abstract The availability of molecular tools to carry out genotyping has led to a flurry of association studies between specific genes and clinical indices of disease or disease susceptibility. Human studies for the most part have a limited number of subjects available precluding whole genome types of approaches. Candidate gene strategies have consequently become widespread probably in part due to the inherent similarity to clinical association studies. Such studies in cystic fibrosis have found tantalizing results in genes involved in infection and inflammation but many other relevant pathways remain untapped. Genome scanning approaches may eventually uncover genes not currently recognized as important to cystic fibrosis. In the meantime while thousands of polymorphisms are cataloged and other genomic resources become more available the number of association studies with candidate genes will no doubt increase. To make sense of these studies the choice of gene and phenotype must be carefully considered. Keywords genetic variation infection inflammation ion transport pulmonary function Introduction Rozmahel et al 1 reported in 1996 that the lethality associated with a knockout allele of the murine cystic fibrosis transmembrane conductance regulator .
