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Type: Journal article
Title: Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus
Author: Nancarrow, J.
Holman, K.
Hori, T.
Denton, M.
Sutherland, G.
Richards, R.
Citation: Human Molecular Genetics, 1995; 4(3):367-372
Publisher: IRL Press
Issue Date: 1995
ISSN: 0964-6906
Statement of
Nancarrow, J K ; Holman, K ; Mangelsdorf, M ; Hori, T ; Denton, M ; Sutherland, G R ; Richards, R I
Abstract: Rare, folate-sensitive fragile sites are the result of the unstable expansion of trinucleotide p(CCG)n repeats, which are normally polymorphic in copy number. Differences in the number and frequency of alleles of the fragile site FRA16A p(CCG)n repeat were observed between different ethnic populations suggesting that certain alleles might be predisposed to instability. Sequence analysis demonstrated that the longer and more variable alleles were associated with loss of repeat interruption. Perfect repeat configuration therefore appears to be a necessary precondition for the instability associated with fragile site genesis.
Keywords: Chromosomes, Human
Chromosome Fragility
Folic Acid
Polymerase Chain Reaction
Sequence Analysis, DNA
Base Sequence
Repetitive Sequences, Nucleic Acid
Gene Frequency
Chromosome Fragile Sites
Models, Genetic
Molecular Sequence Data
Asian People
White People
DOI: 10.1093/hmg/4.3.367
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Appears in Collections:Aurora harvest 5
Paediatrics publications

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