title: A BrdU-requiring fragile site on chromosome 12.
abstract: A BrdU-requiring fragile site, fra(12)(q24.2), on human chromosome 12 of some individuals is reported. This fragile site is inherited in a Mendelian codominant fashion and does not seem to be associated with any physical or mental abnormality in carriers. It was mostly observed as a chromatid gap: no acentric fragments, triradials or deleted chromosomes were found. The fra(12)(q24.2) was expressed in 34%-48% of metaphases in lymphocyte cultures from carriers when BrdU and FdU were added 6.5 h before harvest, while the expression ranged between 5% and 20% when the cultures were treated with BrdU alone. The fra(12)(q24.2) represents the second BrdU-requiring rare fragile site described on human chromosomes.
authors.affiliation: Institut für Humangenetik und Anthropologie Universität, Freiburg i.Br., Federal Republic of Germany.
authors.forename: I
authors.initials: I
authors.lastname: Voiculescu
authors.forename: C
authors.initials: C
authors.lastname: Hausmann
authors.forename: G
authors.initials: G
authors.lastname: Wolff
authors.forename: E
authors.initials: E
authors.lastname: Back
mesh_terms: D001973:Bromodeoxyuridine / Q000494:pharmacology*; D002648:Child; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree
chemical_list: D001973:Bromodeoxyuridine