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Homozygotes for FRA16B are Normal

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Abstract

Homozygotes for the rare folate-sensitive autosomal fragile sites have never been recorded. Two non-folate-sensitive rare fragile sites (FRA10B and FRA17A) have been previously recorded in normal individuals. We document two unrelated normal individuals who are homozygotes for the rare fragile site FRA16B and record the patterns of induction of this fragile site with berenil. The existence of normal homozygotes for FRA16B suggests that this fragile site is not within a gene essential for normal development.

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References

  • Berg JM, Faunch JA, Pendrey MJ, Penrose LS, Ridler MAC, Shapiro A (1969) A homozygous chromosomal variant. Lancet 1: 531.

    Article  PubMed  CAS  Google Scholar 

  • Hewett DR, Handt O, Hobson L et al. (1998) FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. Mol Cell 1: 773–781.

    Article  PubMed  CAS  Google Scholar 

  • Parrish JE, Oostra BA, Verkerk AJ et al. (1994) Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet 8: 229–235.

    Article  PubMed  CAS  Google Scholar 

  • Schmid M, Feichtinger W, Jessberger A, Kohler J, Lange R (1986) The fragile site 16(q22). 1. Induction by AT-specific DNA-ligands and population frequency. Hum Genet 74: 67–73.

    PubMed  CAS  Google Scholar 

  • Sutherland GR (1981) Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra(10)(q25) are phenotypically normal. Am J Hum Genet 33: 946–949.

    PubMed  CAS  Google Scholar 

  • Sutherland GR (1991) Chromosomal fragile sites. Genet Anal Techniq Applic 8: 161–167.

    CAS  Google Scholar 

  • Sutherland GR, Baker E (1993) Unusual behaviour of a human autosome having two rare folate sensitive fragile sites. Ann Génét 36: 159–162.

    PubMed  CAS  Google Scholar 

  • Sutherland GR, Mulley JC (1996) Fragile X syndrome and other X-linked causes of mental retardation. In: Rimoin DC, Connor JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd Edn. Edinburgh: Churchill Livingstone, pp 1745–1766.

    Google Scholar 

  • Yu S, Mangelsdorf M, Hewett D et al. (1997) Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell 88: 367–374.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, 5006, Australia

    Trudy Hocking, Elizabeth Baker & Grant R. Sutherland

  2. Department of Human Genetics, University of Würzburg, Germany

    Wolfgang Feichtinger & Michael Schmid

  3. South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide and

    Eric A. Haan

  4. Department of Paediatrics, University of Adelaide, Australia

    Eric A. Haan, Elizabeth Baker & Grant R. Sutherland

  5. Department of Genetics, University of Adelaide, Australia

    Grant R. Sutherland

Authors
  1. Trudy Hocking
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  2. Wolfgang Feichtinger
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  3. Michael Schmid
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  4. Eric A. Haan
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  5. Elizabeth Baker
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  6. Grant R. Sutherland
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Corresponding author

Correspondence to Grant R. Sutherland.

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Hocking, T., Feichtinger, W., Schmid, M. et al. Homozygotes for FRA16B are Normal. Chromosome Res 7, 553–556 (1999). https://doi.org/10.1023/A:1009293613064

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  • DOI: https://doi.org/10.1023/A:1009293613064

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