Two highly polymorphic CA repeats in the Menkes gene (ATP7A).
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.
Begy
C R
CR
Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.
Dierick
H A
HA
Innis
J W
JW
Glover
T W
TW
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
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