Expression of folate-sensitive fragile sites in lymphocyte chromosomes

Hum Genet. 1989 Feb;81(3):243-6. doi: 10.1007/BF00278997.

Abstract

The expression of folate-sensitive fragile sites (FS) was analyzed using MTX as a fragility inducer in seven normal subjects [four unrelated persons and three members of one family (father, mother, and son)]; a woman heterozygous for fra Xq27.3 with a 47,XXX karyotype; and her son, affected by the fra-X syndrome. The mean expression of chromosome lesions (CL) other than Xq27.3 was 70.1% (686CL in 978 metaphases), and the coincidence between CL and FS was 68.9%. We propose six new c-fra sites: bands 4q33 and 11q22 because they were found in two members of the same family; band 13q32 because it had a frequency of expression of 3% of metaphases; and bands 3p13, 8q21, and Xq21 because they were observed in four of the nine individuals studied.

MeSH terms

  • Adult
  • Cells, Cultured
  • Chromosome Banding
  • Chromosome Fragile Sites
  • Chromosome Fragility*
  • Female
  • Folic Acid / pharmacology*
  • Humans
  • Lymphocytes / drug effects*
  • Lymphocytes / ultrastructure
  • Male
  • Methotrexate / pharmacology
  • X Chromosome

Substances

  • Folic Acid
  • Methotrexate