title: Molecular characterization of an intragenic minisatellite (VNTR) polymorphism in the human parathyroid hormone-related peptide gene in chromosome region 12p12.1-p11.2.
abstract: The human parathyroid hormone-related peptide (hPTHrP) gene in chromosome region 12p12.1-p11.2 plays an important role in mammalian development and specifically in skeletogenesis. We have characterized a VNTR polymorphism in the hPTHrP gene that is located in an intron 100-bp downstream of exon VI that encodes a 3' untranslated region. By PCR analysis eight different alleles were identified in a group of 112 unrelated individuals. All eight alleles were sequenced and the repeat unit was identified as the general sequence [G(TA)nC]N, where n = 4 to 11 and N = 3 to 17. This polymorphic sequence-tagged site will be useful for mapping chromosome 12p and will aid in testing for linkage of genetic diseases to the hPTHrP gene.
authors.affiliation: Department of Medicine, McGill University, Montreal, Quebec, Canada.
authors.forename: Z
authors.initials: Z
authors.lastname: Pausova
authors.forename: K
authors.initials: K
authors.lastname: Morgan
authors.forename: T M
authors.initials: TM
authors.lastname: Fujiwara
authors.forename: J
authors.initials: J
authors.lastname: Bourdon
authors.forename: D
authors.initials: D
authors.lastname: Goltzman
authors.forename: G N
authors.initials: GN
authors.lastname: Hendy
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D004276:DNA, Satellite / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D044162:Parathyroid Hormone-Related Protein; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D016324:Sequence Tagged Sites
chemical_list: D004276:DNA, Satellite; C470121:PTHLH protein, human; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins