Topic
Anticipation (genetics)
About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.
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01 Jan 1992
TL;DR: The recent discovery ofherited unstable DNA sequences, first infragile-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 intheinheritance ofmyotonic Dystrophy and may prove relevant to comparable problems inother genetic disorders.
Abstract: Summary Theconceptofanticipation, the occurrence ofa genetic disorder atprogressively earlier ages insuccessive generations, hasbeendebated fromtheearly yearsofthis century,withmyotonic dystrophy asthemost striking example. Throughout mostofthis period there hasbeen controversy as towhether thephenomenon resulted fromobservational andascertainment biases or reflected a more fundamental mechanism. The recentdiscovery ofinherited unstable DNA sequences,first infragile-X mental retardation andnow in myotonic dystrophy, notonlyconfirms that anticipation indeed hasa truebiological basis butprovides a specific molecular mechanism forit; this discovery can explain many ofthepuzzling anomalies intheinheritanceofmyotonic dystrophy andmay prove relevant tocomparable problems inother genetic disorders.
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TL;DR: In most families, age of onset tends to be similar, but in some families the disease occurs progressively earlier in successive generations, a phenomenon called anticipation.
Abstract: Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine repeat in the huntingtin protein. The disease is inherited in an autosomal dominant manner with age-dependent penetrance. CAG repeat lengths of 40 or more are associated with nearly full penetrance by age 65 years. HD typically occurs between 35 and 50 years of age. About 6% of cases have juvenile HD, defined as disease onset before the age of 20 (see Chap. 68). In most families, age of onset tends to be similar, but in some families the disease occurs progressively earlier in successive generations, a phenomenon called anticipation.
01 Jan 1988
01 Jan 2003
TL;DR: Many genes can be identified through data obtained from the Genolevures program and genomic tools for genome mapping and large-scale expression have been built up, as described below.
Abstract: The complete nucleotide sequence of K. lactis is currently awaited with anticipation by the K. lactis community since it is needed to accelerate data acquisition and to provide access to new biological approaches. In the meantime, however, much information that could be very useful for research laboratories already exists in various places. The purpose of this very short review is to provide the information that exists today, and explain how and where to obtain it. Many genes can be identified through data obtained from the Genolevures program and genomic tools for genome mapping and large-scale expression have been built up, as described shortly below.