title: Molecular cytogenetic parameters in fibroblasts from patients and carriers of xeroderma pigmentosum.
abstract: Xeroderma pigmentosum (XP) is a rare autosomal recessive syndrome. Laboratory investigations have failed to detect any consistent anomaly in cells from XP heterozygotic subjects, although examples of behavior intermediate between normal and XP cells have been reported. To estimate random aneuploidy we applied fluorescence in situ hybridization (FISH) with alpha-satellite probes for chromosomes 8 and 9 and replication pattern for TP53 (p53), ERBB2 (HER-2/neu), and MYCN (N-MYC) loci and for the imprinted SNRPN locus. A significantly higher rate of aneuploidy rate was observed in XP patients and carriers than in controls. The asynchrony pattern was significantly higher in XP carriers and patients with all three coding loci analyzed and significantly lower in XP patients and carriers with the imprinted locus SNRPN than in the control group. Molecular cytogenetic parameters such as random aneuploidy and replication pattern, which are known to reflect chromosomal instability, may be part of the tumorigenesis process. In XP patients and carriers, this genetic instability may represent a potential for developing malignancies.
authors.affiliation: Sackler School of Medicine, Tel-Aviv University, Ramat Aviv 69978, Israel. Amiel.Aliza@clalit.org.il
authors.forename: A
authors.initials: A
authors.lastname: Amiel
authors.forename: G
authors.initials: G
authors.lastname: Peretz
authors.forename: H
authors.initials: H
authors.lastname: Slor
authors.forename: G
authors.initials: G
authors.lastname: Weinstein
authors.forename: M D
authors.initials: MD
authors.lastname: Fejgin
mesh_terms: D000782:Aneuploidy; D001324:Autoantigens; D020732:Cytogenetic Analysis; D005347:Fibroblasts; D018392:Genomic Imprinting; D006579:Heterozygote; D006801:Humans; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000235:genetics*; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins