Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis.

doi:10.1016/j.fertnstert.2009.10.050

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Article

Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis.

Fertility and sterility - 1 Oct 2010

Kakourou Georgia, Dhanjal Seema, Mamas Thalia, Serhal Paul, Delhanty Joy D, SenGupta Sioban B

Abstract excerpt

OBJECTIVE: To overcome problems associated with the use of triplet repeat primed polymerase chain reaction (TP-PCR) in preimplantation genetic diagnosis (PGD) of myotonic dystrophy type 1 (DM1). DESIGN: Clinical research study. SETTING: UCL Centre for PGD and Centre for Reproductive and Genetic Health. PATIENT(S): Seven couples undergoing PGD for DM1. INTERVENTION(S): A modified TP-PCR protocol (mTP-PCR) for the...

Topics

Alleles
Base Sequence
False Negative Reactions
False Positive Reactions
Female
Genetic Testing
Humans
Lymphocytes
Male
Molecular Sequence Data
Myotonic Dystrophy
Myotonin-Protein Kinase
Nucleic Acid Amplification Techniques

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Preimplantation Diagnosis

Protein Serine-Threonine Kinases

Trinucleotide Repeats

Source

Open in PubMed

Identifiers

PMID: 20171614
DOI: 10.1016/j.fertnstert.2009.10.050

Genes

PGD
DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.