Studies on three rare fragile sites. 2q13, 12q13, and 17p12 segregating in one family.
Three fragile sites 2q13, 12q13, and 17p12 were found in one family. In the index case, who was first investigated in 1969 for low birth weight and bilateral inguinal hernia, three tissues were examined, blood, marrow, and skin. Three of the family have been reinvestigated after 17 years. Cultures for sister chromatid exchange (SCE) and the effects of aphidicolin, fluorodeoxyuridine (FUdR), bromodeoxyuridine (BrdU), and methotrexate on the frequency of the fragilities were studied. The mother of the index case who is an obligate carrier for the fragile 2q13 does not express it in folate/thymidine deficient medium. Further studies on her using a lymphoblastoid cell line, showed that there was a reduced level of fragility of 12q13 and 17p12 in B-lymphocytes compared to T-lymphocytes. Excess thymidine and FUdR when added to the lymphoblastoid cell line did not induce the 2q13. These studies also confirm the induction of a range of common fragile sites by treatment with aphidicolin, showing in addition homozygosity for at least 3p14, 6q26, 16q23, and Xp22. There were no detectable increases in the SCE rate between individuals with fragile sites and the five controls tested. There was no history of cancer or phenotypic abnormalities in the family.
D000293:Adolescent; D016590:Aphidicolin; D002478:Cells, Cultured; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D004224:Diterpenes / Q000494:pharmacology; D005260:Female; D005492:Folic Acid / Q000494:pharmacology; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012854:Sister Chromatid Exchange / Q000187:drug effects
D004224:Diterpenes; D016590:Aphidicolin; D005492:Folic Acid