Results 231 to 240 of about 26,354 (249)

Population genetics of trinucleotide repeat polymorphisms

Human Molecular Genetics, 1995
Trinucleotide repeats at five disease loci (DM, DRPLA, HD, SBMA and SCA1) were surveyed in phenotypically normal individuals from three continental populations. This is the first analysis to examine the population dynamics of these five disease-related trinucleotide repeats in the same individuals from worldwide populations. Roughly half of all alleles
Lynn B. Jorde, W. S. Watkins, Michael J. Bamshad   +2 more
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Heritable trinucleotide repeats and neurological disorders [PDF]

Experientia, 1994
In the past 3 years, seven human neurological disorders have been found to be associated with an abnormal number of unstable trinucleotide repeats within exons or non-expressed regions of a gene. These forms of mutations are called dynamic mutations.
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DNA repair and trinucleotide repeat instability

Frontiers in Bioscience, 2003
enes harboring certain trinucleotide repeat (TNR) sequences are at risk for high-frequency mutations that expand or contract the repeat tract. The triplet sequences CNG (where N = any nucleotide) and GAA are known to cause human disease when they expand by more than a few repeats in certain key genes.
Robert S. Lahue, Danielle L Slater
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Huntington's Disease and Repeating Trinucleotides

New England Journal of Medicine, 1994
Huntington's disease is an inherited neurodegenerative disease of midlife onset that produces a characteristic, progressive movement disorder with accompanying psychiatric changes. The symptoms result from the selective loss of neurons, most notably in the caudate nucleus and putamen, and there is currently no effective treatment. In 1983 we identified
Marcy E. MacDonald, James F. Gusella
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Psychosis and genes with trinucleotide repeat polymorphism

Human Genetics, 1996
Abnormal expansion of genes with trinucleotide repeat (TNR) polymorphism has been found in a number of neuropsychiatric disorders. These disorders and the major psychoses, schizophrenia and bipolar affective disorder, appear to share an interesting phenomenon: genetic anticipation.
Tsukasa Sasaki, Herbert Y. Meltzer, Elizabeth A. Billett, Thomas J. Parsons, Arturas Petronis, Christopher A. Ross, James L. Kennedy, Melvin G. McInnis, Fabio Macciardi, Dajun Ying, Russel T. Joffe, Shihua Li, Jeffrey A. Lieberman   +12 more
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Trinucleotide repeat expansions: timing is everything

Trends in Molecular Medicine, 2003
The expansion of trinucleotide repeats is known to cause a growing number of human diseases. However, the mechanism and timing of expansions are poorly understood. Recent studies indicate that expansion mutations occur by multiple pathways during both meiotic and mitotic divisions, and at various stages of cell division.
Dilip K. Nag, Dilip K. Nag
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Analysis of Trinucleotide Repeats in Myotonic Dystrophy

Current Protocols in Human Genetics, 1994
AbstractMyotonic dystrophy is a genetic disorder characterized in 99% of clinically diagnosed families by an unstable CTG repeat in the 3‐untranslated region of a gene encoding a serine‐threonine protein kinase. There is no one method to detect the entire range of expansion sizes possible in affected patients, so current diagnostic approaches rely on ...
Mani S. Mahadevan, Linda C. Surh, Robert G. Korneluk   +2 more
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Detection of Unstable Trinucleotide Repeats

2003
Unstable trinucleotide repeats are a newly recognized class of disease mutation. Several major human single gene disorders are now attributed to expansions of these highly unstable sequences (1-4). Their molecular analysis is particularly challenging, since: 1. Accurate allele sizing is essential; 2. Polymerase chain reaction (PCR) amplification across
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Scope of Trinucleotide Repeat Disorders

2001
Expansions of CAG trinucleotide repeats coding for polyglutamine (polyQ) stretches have been found to be the causative mutation in at least eight hereditary neurodegenerative disorders, which include spinal and bulbar muscular atrophy (SBMA) (La Spada et al., 1991); Huntington’s disease (HD) (The Huntington’s Disease Collaborative Research Group, 1993);
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Trinucleotide repeat polymorphism at D6S366

Human Molecular Genetics, 1993
Chai A, Caskey Ct, Caskey Ct, Stephens L, Panzer Sw, Hammond Ha   +5 more
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