α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

Abstract

A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis. This deficiency results from a single amino acid substitution created by a G to A transition in the gene for alpha 1-antitrypsin. Chemically synthesized specific oligonucleotide probes (19-mer) have been used to develop a sensitive and direct test for the presence or absence of the mutant gene in any individual, which can be used for prenatal diagnosis of the deficiency syndrome.

Keywords

Alpha 1-antitrypsin deficiencyGeneCirrhosisMutantMutationProtease inhibitor (pharmacology)ProteaseOligonucleotideMutation testingTransition (genetics)BiologyMolecular biologyChemistryMedicineGeneticsBiochemistryInternal medicineImmunologyEnzyme

MeSH Terms

Base SequenceDNA Restriction EnzymesGenesGenotypeHumansLiverMutationNucleic Acid Hybridizationalpha 1-Antitrypsinalpha 1-Antitrypsin Deficiency

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Publication Info

Year: 1983
Type: article
Volume: 304
Issue: 5923
Pages: 230-234
Citations: 278
Access: Closed

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APA Style

                            
                                
                                    Vincent J. Kidd, 
                                
                                    R. Bruce Wallace, 
                                
                                    Keiichi Itakura
                                
                                et al.
                            
                            (1983). 
                            α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene. 
                            Nature
                            , 304
                            (5923)
                            , 230-234.
                            https://doi.org/10.1038/304230a0
                        

Identifiers

DOI: 10.1038/304230a0
PMID: 6306478

Data Quality

Data completeness: 81%