Triplet repeat sequences in human DNA can be detected by hybridization to a synthetic (5'-CGG-3')17 oligodeoxyribonucleotide.

A Behn-Krappa, J Mollenhauer, W Doerfler

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Udgivelsesdato: 1993-Nov-1
OriginalsprogEngelsk
TidsskriftFEBS Letters
Vol/bind333
Udgave nummer3
Sider (fra-til)248-50
Antal sider2
ISSN0014-5793
StatusUdgivet - 1. nov. 1993

Fingeraftryk

Trinucleotide Repeats
Oligodeoxyribonucleotides
Human Genome
Amplification
Atrophic Muscular Disorders
Fragile X Syndrome
Myotonic Dystrophy
DNA
Huntington Disease
Medical Genetics
Genes
Causality

Citer dette

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title = "Triplet repeat sequences in human DNA can be detected by hybridization to a synthetic (5'-CGG-3')17 oligodeoxyribonucleotide.",
abstract = "The seemingly autonomous amplification of naturally occurring triplet repeat sequences in the human genome has been implicated in the causation of human genetic disease, such as the fragile X (Martin-Bell) syndrome, myotonic dystrophy (Curshmann-Steinert), spinal and bulbar muscular atrophy (Kennedy's disease) and Huntington's disease. The molecular mechanisms underlying these triplet amplifications are still unknown. We demonstrate here that a synthetic (CGG)17 oligodeoxyribonucleotide can be utilized as hybridization probe to visualize some of the triplet repeats in the human genome. This technique may help in studies aimed at the elucidation of the amplification mechanism.",
keywords = "Autoradiography, Base Sequence, Blotting, Southern, DNA, Genetic Diseases, Inborn, Genome, Human, Humans, Molecular Sequence Data, Nucleic Acid Hybridization, Oligodeoxyribonucleotides, Phosphorus Radioisotopes, Repetitive Sequences, Nucleic Acid, Restriction Mapping",
author = "A Behn-Krappa and J Mollenhauer and W Doerfler",
year = "1993",
month = "11",
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language = "English",
volume = "333",
pages = "248--50",
journal = "F E B S Letters",
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Triplet repeat sequences in human DNA can be detected by hybridization to a synthetic (5'-CGG-3')17 oligodeoxyribonucleotide. / Behn-Krappa, A; Mollenhauer, J; Doerfler, W.

I: FEBS Letters, Bind 333, Nr. 3, 01.11.1993, s. 248-50.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Triplet repeat sequences in human DNA can be detected by hybridization to a synthetic (5'-CGG-3')17 oligodeoxyribonucleotide.

AU - Behn-Krappa, A

AU - Mollenhauer, J

AU - Doerfler, W

PY - 1993/11/1

Y1 - 1993/11/1

N2 - The seemingly autonomous amplification of naturally occurring triplet repeat sequences in the human genome has been implicated in the causation of human genetic disease, such as the fragile X (Martin-Bell) syndrome, myotonic dystrophy (Curshmann-Steinert), spinal and bulbar muscular atrophy (Kennedy's disease) and Huntington's disease. The molecular mechanisms underlying these triplet amplifications are still unknown. We demonstrate here that a synthetic (CGG)17 oligodeoxyribonucleotide can be utilized as hybridization probe to visualize some of the triplet repeats in the human genome. This technique may help in studies aimed at the elucidation of the amplification mechanism.

AB - The seemingly autonomous amplification of naturally occurring triplet repeat sequences in the human genome has been implicated in the causation of human genetic disease, such as the fragile X (Martin-Bell) syndrome, myotonic dystrophy (Curshmann-Steinert), spinal and bulbar muscular atrophy (Kennedy's disease) and Huntington's disease. The molecular mechanisms underlying these triplet amplifications are still unknown. We demonstrate here that a synthetic (CGG)17 oligodeoxyribonucleotide can be utilized as hybridization probe to visualize some of the triplet repeats in the human genome. This technique may help in studies aimed at the elucidation of the amplification mechanism.

KW - Autoradiography

KW - Base Sequence

KW - Blotting, Southern

KW - DNA

KW - Genetic Diseases, Inborn

KW - Genome, Human

KW - Humans

KW - Molecular Sequence Data

KW - Nucleic Acid Hybridization

KW - Oligodeoxyribonucleotides

KW - Phosphorus Radioisotopes

KW - Repetitive Sequences, Nucleic Acid

KW - Restriction Mapping

M3 - Journal article

C2 - 8224187

VL - 333

SP - 248

EP - 250

JO - F E B S Letters

JF - F E B S Letters

SN - 0014-5793

IS - 3

ER -