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Direct detection of novel expanded trinucleotide repeats in the human genome.

Abstract：

:Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human genomic DNA is used as a template for a two-step cycling process that generates oligonucleotide multimers when expanded trinucleotide sequences are present at the level found in myotonic dystrophy and fragile-X patients. We have identified at least one new locus exhibiting trinucleotide expansion. Analysis of three families transmitting a long CTG repeat shows that the allele in these families corresponds to a locus on chromosome 18. RED constitutes a powerful tool to identify other diseases caused by this mechanism, particularly diseases associated with anticipation.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Schalling M,Hudson TJ,Buetow KH,Housman DE

doi

10.1038/ng0693-135

subject

Has Abstract

pub_date

1993-06-01 00:00:00

pages

135-9

issue

2

eissn

1061-4036

issn

1546-1718

journal_volume

4

pub_type

杂志文章

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