Abstract
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:
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1.
Accurate allele sizing is essential;
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2.
Polymerase chain reaction (PCR) amplification across the repeat is hampered by extreme guanme cytosme (GC) content and strong secondary structure, and
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3.
Size differences between normal and mutated alleles may be great, for instance, in fragile X they can range from 6 to over 1000 repeats
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© 1996 Humana Press Inc, Totowa, NJ
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Wallace, A.J. (1996). Detection of Unstable Trinucleotide Repeats. In: Elles, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine™, vol 5. Humana Press. https://doi.org/10.1385/0-89603-346-5:37
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DOI: https://doi.org/10.1385/0-89603-346-5:37
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