title: Novel PLA2G4C polymorphism as a molecular diagnostic assay for 19q loss in human gliomas.
abstract: PLA2G4C, encoding cytosolic phospholipase A2-gamma (cPLA2-gamma), is a 17-exon gene located on chromosome 19q13.3 within the putative glioma tumor suppressor gene region. Given the clinical importance of assessing 1p and 19q loss in human gliomas, the development of convenient and practical assays for detecting allelic loss is of considerable priority in neuro-oncology. We report a minisatellite polymorphism in the untranslated region of exon 1, with allelic variants that have one, two or three 27-bp repeats. The polymorphism is informative in 55.7% of a reference population, and accurately detects allelic loss of 19q in human gliomas. This novel marker offers distinct advantages for assessing 19q status in malignant gliomas. The relatively large size of the repeats allows detection of allelic variants with standard ethidium bromide-stained agarose gels and the PLA2G4C marker is the closest polymorphism to the smallest common deletion area in the putative glioma tumor suppressor gene region. These characteristics suggest that the PLA2G4C polymorphism will be a convenient and practical assay for clinical and research evaluation of 19q status in human gliomas.
authors.affiliation: Molecular Neuro-Oncology Laboratory, Massachusetts General Hospital, Harvard Medical School, Charlestown 02129, USA.
authors.forename: Christian
authors.initials: C
authors.lastname: Hartmann
authors.forename: Loki
authors.initials: L
authors.lastname: Johnk
authors.forename: Hikaru
authors.initials: H
authors.lastname: Sasaki
authors.forename: Robert B
authors.initials: RB
authors.lastname: Jenkins
authors.forename: David N
authors.initials: DN
authors.lastname: Louis
mesh_terms: D000483:Alleles; D001483:Base Sequence / Q000235:genetics; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D014644:Genetic Variation; D005910:Glioma / Q000175:diagnosis / Q000235:genetics*; D054513:Group IV Phospholipases A2; D006801:Humans; D019656:Loss of Heterozygosity; D008969:Molecular Sequence Data; D010741:Phospholipases A / Q000235:genetics*; D054467:Phospholipases A2; D011110:Polymorphism, Genetic / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D010741:Phospholipases A; D054513:Group IV Phospholipases A2; D054467:Phospholipases A2