title: Assignment of the human poly(A) polymerase (PAP) gene to chromosome 14q32.1-q32.2 and isolation of a polymorphic CA repeat sequence.
abstract: We report the chromosomal localization of the gene for human poly(A) polymerase (PAP) and the characterization of a newly isolated CA repeat near the PAP locus. By fluorescence in situ hybridization and polymerase chain reaction (PCR)-based analysis with both a human/rodent monochromosomal hybrid cell panel and a radiation hybrid mapping panel, this gene was mapped on the q32.1-q32.2 region of chromosome 14. From a genomic clone containing the human PAP locus, we have isolated a polymorphic dinucleotide (CA) sequence. High heterozygosity (0.81) makes this polymorphism a useful marker in the genetic study of disorders localized at the 14q32 region, such as autosomal recessive congenital microphthalmia (CMIC).
authors.affiliation: Department of Materials and Biosystem Engineering, Faculty of Engineering, Toyama University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamauchi
authors.forename: J
authors.initials: J
authors.lastname: Sugimoto
authors.forename: T
authors.initials: T
authors.lastname: Hatakeyama
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: M
authors.initials: M
authors.lastname: Isobe
mesh_terms: D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D018900:Dinucleotide Repeats; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic; D011062:Polynucleotide Adenylyltransferase / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D011062:Polynucleotide Adenylyltransferase