Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA.

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Article

Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA.

Clinical chemistry - 1 Sept 1996

Paunio T, Reima I, Syvänen A C

Abstract excerpt

We have developed a new method for preimplantation diagnosis of inherited diseases. Our procedure for the identification of point mutations in single cells combines whole-genome amplification using 15-mer random primers (primer extension preamplification, PEP) with a single locus-specific PCR amp...

Topics

Alleles
Base Sequence
Blastomeres
DNA
DNA Mutational Analysis
Embryonic Development
Female
Gene Amplification
Genetic Carrier Screening
Genotype
Granulosa Cells
Humans
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Pregnancy
Prenatal Diagnosis

Source

Open in PubMed

Identifiers

PMID: 8787693

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8787693-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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