title: Prevalence of α-1-antitrypsin gene mutations in Saudi Arabia.
abstract: OBJECTIVE
  α-1 antitrypsin (AAT) deficiency results from mutations of the protease inhibitor (PI). The AAT gene is mapped on chromosome 14 and has been associated with chronic liver disease and chronic obstructive pulmonary disease (COPD).
  
  
  OBJECTIVE
  To determine the frequency of AAT mutations on S and Z carrier alleles in healthy Saudi individuals from Qassim Province in Saudi Arabia.
  
  
  METHODS
  A total of 158 healthy, unrelated participants from Qassim Province were recruited. They were genotyped for the two AAT-deficiency alleles, PIFNx01S and PIFNx01Z, using polymerase chain reaction, with primers designed throughout to mediate site-directed mutagenesis.
  
  
  RESULTS
  Of the 158 subjects, 11.39% were carriers for the S mutation (i.e., had the MS genotype), whereas 2.53% were carriers for the Z mutation (i.e., had the MZ genotype). The SZ genotype was present in 3.8% of subjects, while the homozygous genotype SS was present in 1.9% of subjects. No subjects showed the ZZ mutant genotype. Accordingly, frequency of the mutant S and Z alleles of AAT gene was 9.49% and 3.19%, respectively.
  
  
  CONCLUSIONS
  The results obtained showed a high prevalence of the AAT deficiency allele in the Saudi population. This probably warrants adoption of a screening program for at-risk individuals, so that they might initiate adequate prophylactic measures.
authors: Department of Medicine, Qassim University, Saudi Arabia. bmj@qumedicine.org
authors: Badr
authors: B
authors: Aljarallah
authors: Ahmed
authors: A
authors: Ali
authors: Moataz
authors: M
authors: Dowaidar
authors: Ahmad
authors: A
authors: Settin
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000483:Alleles; D002648:Child; D015331:Cohort Studies; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D018570:Risk Assessment; D012529:Saudi Arabia / Q000453:epidemiology; D017678:Sex Distribution; D055815:Young Adult; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin