title: Two highly polymorphic CA repeats in the Menkes gene (ATP7A).
abstract: Two highly polymorphic CA repeats have been identified in the Menkes gene (ATP7A). These repeats should be useful for prenatal diagnosis and carrier detection in families with Menkes disease and X-linked cutis laxa. The observed heterozygosity for these two repeats was 0.778 and 0.60 in Centre d'Etude du Polymorphisme Humaine (CEPH) families.
authors.affiliation: Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.
authors.forename: C R
authors.initials: CR
authors.lastname: Begy
authors.forename: H A
authors.initials: HA
authors.lastname: Dierick
authors.forename: J W
authors.initials: JW
authors.lastname: Innis
authors.forename: T W
authors.initials: TW
authors.lastname: Glover
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D002874:Chromosome Mapping; D000073840:Copper-Transporting ATPases; D003483:Cutis Laxa / Q000235:genetics; D017931:DNA Primers; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011993:Recombinant Fusion Proteins; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014960:X Chromosome
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D017931:DNA Primers; D011993:Recombinant Fusion Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases