[Analysis of alpha 1-antitrypsin deficiency using DNA methods].

Abstract

Deficiency of alpha 1-antitrypsin can be diagnosed by DNA methods that are quick and also give reproducible results. Direct DNA analysis of the M, S, and Z alleles of the alpha 1-antitrypsin gene is possible when two molecular biology techniques are combined: a part of the gene is enzymatically replicated according to the pattern of the human DNA that is to be investigated. On hybridization with the various allele-specific pieces of synthetic DNA the copies that have come about in this way give a signal corresponding to the genotype. Only a small amount of material (0.5 microgram DNA) is needed for the investigation. This method is thus suitable for prenatal diagnosis when this is requested by members of a family known to be affected. A total of 53 samples were typed and investigations were carried out in six families.

• Authors: U Wick, P Kühnl, W Engel
• Journal: Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde (Monatsschr Kinderheilkd) Vol. 138 Issue 8 Pg. 438-42 (Aug 1990) ISSN: 0026-9298 [Print] Germany
• Vernacular Title: Analyse der alpha 1-Antitrypsin-Defizienz durch DNA-Methoden.
• PMID: 2215506 (Publication Type: English Abstract, Journal Article)

Chemical References

• alpha 1-Antitrypsin
• DNA

Topics

• Alleles
• DNA (genetics)
• Exons
• Genes, gag
• Heterozygote
• Humans
• Metabolism, Inborn Errors (genetics)
• Nucleic Acid Hybridization
• Polymerase Chain Reaction
• alpha 1-Antitrypsin (genetics)
• alpha 1-Antitrypsin Deficiency