TAILIEUCHUNG - Báo cáo y học: "Genetic polymorphisms in lung disease: bandwagon or breakthrough?"

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:Genetic polymorphisms in lung disease: bandwagon or breakthrough. | Available online http content 3 1 15 Review Genetic polymorphisms in lung disease bandwagon or breakthrough Michael C lannuzzi Mary Maliarik and Benjamin Rybicki Division of Pulmonary Critical Care Henry Ford Health System Detroit Michigan USA Division of Allergy and Immunology Henry Ford Health System Detroit Michigan USA Department of Biostatistics and Epidemiology Henry Ford Health System Detroit Michigan USA Correspondence Michael C lannuzzi Division of Pulmonary Critical Care Allergy and Immunology Henry Ford Health System 2799 West Grand Boulevard Detroit Ml 48202 USA. Tel 1 313 916 3757 fax 1 313 916 9102 e-mail Miannuz1@ Received 30 August 2001 Revisions requested 17 October 2001 Revisions received 18 January 2002 Accepted 22 January 2002 Published 19 February 2002 Respir Res 2002 3 15 2002 BioMed Central Ltd Print ISSN 1465-9921 Online ISSN 1465-993X Abstract The study of genetic polymorphisms has touched every aspect of pulmonary and critical care medicine. We review recent progress made using genetic polymorphisms to define pathophysiology to identify persons at risk for pulmonary disease and to predict treatment response. Several pitfalls are commonly encountered in studying genetic polymorphisms and this article points out criteria that should be applied to design high-quality genetic polymorphism studies. Keywords genetic predisposition to disease genetics human polymorphism genetics pulmonary Introduction Genetic polymorphisms are defined as variations in DNA that are observed in 1 or more of the population. Genetic polymorphisms may alter protein structure and function through a single nucleotide base substitution in a gene s coding region and may increase or decrease gene expression either by affecting mRNA stability when occurring in a gene s 3 untranslated region or by altering transcription factor binding when occurring in the 5 promoter region. Alternatively a polymorphism may have no discernable effect on the .

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