Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.

作者： Athanasios Papatheodorou , Periklis Makrythanasis , Marios Kaliakatsos , Aikaterini Dimakou , Dora Orfanidou

DOI: 10.1016/J.CLINBIOCHEM.2009.08.026

关键词:

摘要: Abstract Objectives The aim of our study was to determine the genetic risk conferred by SNPs in SERPINA1 and ADRB2 for development Chronic Obstructive Pulmonary Disease (COPD) Disseminated Bronchiectasis (DB), while at same time validating NanoChip technology. This a case–control consisting 112 COPD, 62 DB patients 2 control groups (106 smokers without COPD: healthy group 205 general population subjects). Design methods novel methodology Nanogen NanoChip® 400 (NC400 www.nanogen.com ) employed genotyping five mutations/SNPs gene. Results For gene statistically significant difference frequency found heterozygotes p.V213A between (44.1% vs. 26.4% respectively; p = 0.035) c.1237G>A subjects (10.2% 25.4% = 0.023). There clustering p.Gly16 homozygotes with severe COPD (24/44, 54.5% FEV 1 values Conclusions polymorphism associated p.G16R is factor smokers.

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Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.

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Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.

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