Prevalence of a-1-Antitrypsin gene mutations in Saudi Arabia

Background/Aim: 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...

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Veröffentlicht in:Saudi journal of gastroenterology 2011-07, Vol.17 (4), p.256
Hauptverfasser: Aljarallah, Badr, Ali, Ahmed, Dowaidar, Moataz, Settin, Ahmad
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container_title Saudi journal of gastroenterology
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creator Aljarallah, Badr
Ali, Ahmed
Dowaidar, Moataz
Settin, Ahmad
description Background/Aim: 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. Patients and 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. Conclusion: 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.
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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. Patients and 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. Conclusion: 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.</description><identifier>ISSN: 1319-3767</identifier><identifier>EISSN: 1998-4049</identifier><identifier>DOI: 10.4103/1319-3767.82580</identifier><language>eng</language><publisher>Riyadh: Medknow Publications and Media Pvt. Ltd</publisher><subject>Gene mutations ; Genetic aspects ; Genetic counseling ; Genotype &amp; phenotype ; Liver diseases ; Metabolic disorders ; Mutation ; Physiological aspects ; Protease inhibitors ; Proteins ; Risk factors ; Sampling techniques ; Studies</subject><ispartof>Saudi journal of gastroenterology, 2011-07, Vol.17 (4), p.256</ispartof><rights>COPYRIGHT 2011 Medknow Publications and Media Pvt. 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subjects Gene mutations
Genetic aspects
Genetic counseling
Genotype & phenotype
Liver diseases
Metabolic disorders
Mutation
Physiological aspects
Protease inhibitors
Proteins
Risk factors
Sampling techniques
Studies
title Prevalence of a-1-Antitrypsin gene mutations in Saudi Arabia
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