Abstract
A number of human hereditary neuromuscular and neurodegenerative disorders are caused by the expansion of trinucleotide repeats within certain genes. Here we report the results of the analysis of five trinucleotide repeats containing genes (SCA1, MJD/SCA3, DRPLA, FRDA and MD) in HD patients and in a group of healthy controls. Allelic frequency distributions for SCA1 and FRDA genes were shifted toward larger alleles in the group of unrelated HD patients, compared to healthy controls. This linkage disequilibrium suggests a possible existence of a common mechanism of trinucleotide repeats expansion in these loci.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Adult
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Antigens, Surface / genetics
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Ataxin-1
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Ataxin-3
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Ataxins
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Case-Control Studies
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Chi-Square Distribution
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Female
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Gene Frequency
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Humans
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Huntington Disease / genetics*
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Linkage Disequilibrium*
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Male
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Middle Aged
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Nerve Tissue Proteins / genetics*
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Nuclear Proteins / genetics*
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Polymerase Chain Reaction
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Repressor Proteins
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Trinucleotide Repeat Expansion*
Substances
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APBA1 protein, human
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ATXN1 protein, human
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Adaptor Proteins, Signal Transducing
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Antigens, Surface
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Ataxin-1
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Ataxins
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LY86 protein, human
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Nerve Tissue Proteins
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Nuclear Proteins
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Repressor Proteins
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atrophin-1
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ATXN3 protein, human
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Ataxin-3