title: [The investigation of genotype and expression of alpha1-AT in patients with COPD].
abstract: OBJECTIVE
  To detect genotype and expression of alpha1-AT in the patients with COPD to investigate the effect of alpha1-AT on pathogenesis of COPD.
  
  
  METHODS
  Detection of PiZ allele in exon V and S allele in exon III were performed by PCR-Amplification of Specific Allele (PASA). The levels of serum alpha1-AT in some of subjects were measured by Enzyme-Linked Immunoadsordent Assay (ELISA).
  
  
  RESULTS
  The PCR production of S mutation was 285 base pair fragment. The PCR production of Z-mutation was 250 base pair fragment. The results showed that All subjects were PiMM genotype of alpha1-AT, including COPD and control group. The mean serum alpha1-AT concentration, in patients with COPD, was 2.3 g/L +/- 1.1 g/L. In control group, the mean serum alpha1-AT concentration was 2.7 g/L +/- 0.84 g/L. The levels of alpha1-AT in patients with COPD are significantly lower than that in control group (P = 0.012). RV/TL and degree of pursiness are negative correlation with the levels of alpha1-AT. The r value were -0.208 and -0.262 respectively.
  
  
  CONCLUSIONS
  There was no difference in genetic polymorphism of alpha1-AT between the patients with COPD and controls. However, the levels of serum alpha1-AT were significantly lower in the patients with COPD compared with control subjects. alpha1-AT deficiency may be a factor of the pathogenesis of COPD. The mechanism of alpha1-AT deficiency needs to be addressed.
authors: Department of Respiratory Disease, Peking University Third Hospital, Beijing 100083, China.
authors: Yan
authors: Y
authors: Zhang
authors: Bei
authors: B
authors: He
authors: Ming-wu
authors: MW
authors: Zhao
authors: Xiao-hong
authors: XH
authors: Wang
authors: Ling
authors: L
authors: Jiang
authors: Wan-zhen
authors: WZ
authors: Yao
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010196:Pancreatic Elastase / Q000097:blood; D016133:Polymerase Chain Reaction; D029424:Pulmonary Disease, Chronic Obstructive / Q000201:enzymology* / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000096:biosynthesis* / Q000235:genetics
chemical_list: D000515:alpha 1-Antitrypsin; D010196:Pancreatic Elastase