Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
1609789
TITLE
Anticipation in myotonic dystrophy: new light on an old problem.
ABSTRACT
The concept of anticipation, the occurrence of a genetic disorder at progressively earlier ages in successive generations, has been debated from the early years of this century, with myotonic dystrophy as the most striking example. Throughout most of this period there has been controversy as to whether the phenomenon resulted from observational and ascertainment biases or reflected a more fundamental mechanism. The recent discovery of inherited unstable DNA sequences, first in fragile-X mental retardation and now in myotonic dystrophy, not only confirms that anticipation indeed has a true biological basis but provides a specific molecular mechanism for it; this discovery can explain many of the puzzling anomalies in the inheritance of myotonic dystrophy and may prove relevant to comparable problems in other genetic disorders.
DATE PUBLISHED
1992 Jul
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 1992/07/01
medline 1992/07/01 00:01
entrez 1992/07/01 00:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Harper PS Harper P S PS Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, United Kingdom.
Harley HG Harley H G HG
Reardon W Reardon W W
Shaw DJ Shaw D J DJ
INVESTIGATORS
JOURNAL
VOLUME: 51
ISSUE: 1
TITLE: American journal of human genetics
ISOABBREVIATION: Am. J. Hum. Genet.
YEAR: 1992
MONTH: Jul
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0002-9297
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Biography
Historical Article
Journal Article
Portrait
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
ErratumIn Am J Hum Genet 1992 Oct;51(4):942
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Chromosome Fragility
History, 20th Century
Humans
Myotonic Dystrophy history
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's