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Article

Use of the chemical cleavage of mismatch method for prenatal diagnosis of alpha-1-antitrypsin deficiency.

Prenatal diagnosis - 1 Feb 1992

Forrest S M, Dry P J, Cotton R G

Abstract excerpt

The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily...

Topics

Autoradiography
Base Sequence
Chorionic Villi Sampling
Female
Humans
Hydroxylamine
Hydroxylamines
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis

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alpha 1-Antitrypsin

alpha 1-Antitrypsin Deficiency

Source

Identifiers

PMID: 1553359
DOI: 10.1002/pd.1970120209

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1553359-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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