Science. 1991 Jun 21;252(5013):1711-4.

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI.

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Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.

Abstract

The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. The region of instability was localized to a trinucleotide repeat p(CCG)n. The sequence flanking this repeat were identical in normal and affected individuals. The breakpoints in two somatic cell hybrids constructed to break at the fragile site also mapped to this repeat sequence. The repeat exhibits instability both when cloned in a nonhomologous host and after amplification by the polymerase chain reaction. These results suggest variation in the trinucleotide repeat copy number as the molecular basis for the instability and possibly the fragile site. This would account for the observed properties of this region in vivo and in vitro.

PMID:: 1675488; [PubMed - indexed for MEDLINE]

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Fragile-X syndrome: unique genetics of the heritable unstable element. [Am J Hum Genet. 1992]
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