Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis

C Meisen; M Higuchi; S Bräutigam; A J Driesel; M Blandfort; K Olek

doi:10.1007/BF00280565

Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis

Hum Genet. 1988 Jun;79(2):190-2. doi: 10.1007/BF00280565.

Authors

C Meisen¹, M Higuchi, S Bräutigam, A J Driesel, M Blandfort, K Olek

Affiliation

¹ Institut für Strahlenbiologie der Universität, Bonn, Federal Republic of Germany.

PMID: 2899055
DOI: 10.1007/BF00280565

Abstract

Prenatal diagnosis of a pregnancy at risk for alpha-1-antitrypsin deficiency was performed by oligonucleotide probe analysis using M- and Z-specific oligonucleotides. The result was confirmed by the alternative approach utilizing restriction fragment length polymorphisms. Application of oligonucleotide analysis requires only fetal tissue if proteinase inhibitor types are accurately determined within the family. Our modified protocol is easy to carry out and is practicable in all laboratories where the Southern blot procedure has been established.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

DNA / genetics
Female
Fetal Diseases / diagnosis
Humans
Male
Nucleic Acid Hybridization
Oligonucleotides*
Pedigree
Polymorphism, Restriction Fragment Length
Pregnancy
Prenatal Diagnosis*
alpha 1-Antitrypsin Deficiency*

Substances

Oligonucleotides
DNA