SpringerProtocols: Abstract: 3. Detection of Unstable Trinucleotide Repeats

3. Detection of Unstable Trinucleotide Repeats

By: Andrew J. Wallace²

Abstract

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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 the repeat is hampered by extreme guanme cytosme (GC) content and strong secondary structure, and
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

Affiliation(s): (2) Regional Molecular Genetics Laboratory, St. Mary’s Hospital, Manchester, UK

Book Title: Molecular Diagnosis of Genetic Diseases

Series: Methods in Molecular Medicine | Volume: 5 | Pub. Date: Jul-19-1996 | Page Range: 37-62 | DOI: 10.1385/0-89603-346-5:37

Subject: Molecular Medicine

References

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