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. 1993 Nov;5(3):248-53.
doi: 10.1038/ng1193-248.

A complex mutable polymorphism located within the fragile X gene

N Zhong  1 , C Dobkin, W T Brown
Affiliations

A complex mutable polymorphism located within the fragile X gene

N Zhong et al. Nat Genet. 1993 Nov.

Abstract

While studying founder chromosomes in the fragile X syndrome, we have unexpectedly found linkage equilibrium to FRAXAC2, an Alu-associated microsatellite within the defective gene, FMR-1. DNA sequencing of 265 chromosomes revealed 39 alleles and a complex microsatellite of form (GT)x-C-(TA)y-(T)z. A mutation rate of 3.3% was observed but only among fragile X maternally derived meioses. Finding a second mutable locus within FMR-1 suggests that the target for tandem repeat instability may not be confined to the (CGG)n repeat alone and raises the possibility of an FMR-1 mutation mechanism involving microsatellites.

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Comment in

  • FRAXAC2 instability.
    Richards RI, Holman K, Friend K, Staples A, Sutherland GR, Oudet C, Biancalana V, Mandel JL. Richards RI, et al. Nat Genet. 1994 Jun;7(2):122; author reply 123. doi: 10.1038/ng0694-122a. Nat Genet. 1994. PMID: 7802803 No abstract available.
  • FRAXAC2 instability.
    Mornet E, Chateau C, Taillandier A, Montagnon M, Simon-Bouy B, Serre JL, Boué A. Mornet E, et al. Nat Genet. 1994 Jun;7(2):122-3. doi: 10.1038/ng0694-122b. Nat Genet. 1994. PMID: 7920626 No abstract available.

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