title: Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci.
abstract: Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S1 loci, located at 14q32.3 and 14q32.2 respectively, were deleted on the ring chromosome 14, but that the PI locus was not. Therefore, the chromosomal break lies between PI and D14S1. These results show that the order of these chromosome 14 markers is cen-PI-D14S1-IGH, in keeping with multipoint linkage data. Further molecular characterization of ring 14 chromosomes should lead to a detailed understanding of the molecular events and clinical consequences of the gene deletion associated with such chromosomal aberrations.
authors.affiliation: Laboratoire d'Immunogénétique Moléculaire, UA CNRS 1191, Université des Sciences et Techniques du Languedoc, Montpellier, France.
authors.forename: G
authors.initials: G
authors.lastname: Keyeux
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
authors.forename: G
authors.initials: G
authors.lastname: Lefranc
authors.forename: M P
authors.initials: MP
authors.lastname: Lefranc
mesh_terms: D015139:Blotting, Southern; D002503:Centromere; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D015342:DNA Probes; D004262:DNA Restriction Enzymes; D006801:Humans; D012303:Ring Chromosomes; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D015342:DNA Probes; D000515:alpha 1-Antitrypsin; D004262:DNA Restriction Enzymes