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Article

Utility of the polymerase chain reaction (PCR) for prenatal diagnosis of genetic disease.

Pathology - 1 Apr 1991

Lindeman R, Wallace R, Volpato F, Hu S P, Trent R J

Abstract excerpt

Gene amplification by the polymerase chain reaction (PCR) has been applied to prenatal diagnosis for alpha and beta thalassemias (1 and 5 cases respectively), Hemoglobin (Hb) Lepore/beta thalassemia (1 case) and cystic fibrosis (14 cases). Chorionic villus samples were obtained in the tenth week of pregnancy and DNA analysed in parallel with conventional gene mapping. Direct diagnosis of the common Mediterranean...

Topics

Alleles
Base Sequence
Chorionic Villi Sampling
Cystic Fibrosis
DNA
Female
Humans
Hydrops Fetalis
Molecular Sequence Data
Nucleotide Mapping
Oligonucleotide Probes
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy

Prenatal Diagnosis

Thalassemia

Source

Identifiers

PMID: 1745568
DOI: 10.3109/00313029109060817

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1745568-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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