title: Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.
abstract: The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci were studied in patients with del(12)(p13.3p13.3), del(12)(p12.3-p11.2), del(12)(p12.1-p11.2), del(12) (p11.2p11.2) and their parents. The gene for DRPLA was assigned to p13.1-p12.3 of chromosome 12. In addition, genes for F8vWF and PTHLH were mapped to p13.2 and p11.2 of chromosome 12, respectively.
authors.affiliation: Department of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kuwano
authors.forename: Y
authors.initials: Y
authors.lastname: Morimoto
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: I
authors.initials: I
authors.lastname: Kondo
mesh_terms: D000483:Alleles; D002460:Cell Line; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009410:Nerve Degeneration; D009422:Nervous System Diseases / Q000235:genetics*; D009679:Nuclear Family; D044162:Parathyroid Hormone-Related Protein; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: C470121:PTHLH protein, human; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins; D014841:von Willebrand Factor