Sequence variability of a prolonged tetranucleotide repeat
- 1 April 1995
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 4 (4) , 727-729
- https://doi.org/10.1093/hmg/4.4.727
Abstract
A tetranucleotide repeat located in intron 20 of the RB gene consists of 16–26 CTTT(±T) repeats in 99% of the alleles. In the remaining 1% of alleles the segment is extended to a length of >60 repeats. Sequence analysis revealed that the prolonged alleles either consisted of perfect CTTT(±T) repeats or irregular repeat sequences with variable combinations of C and T. The data provide clues to the mechanisms causing unstable expansions of repeatKeywords
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