title: Menkes X linked disease: two clonal cell populations in heterozygotes.
abstract: The 64Cu incorporation into fibroblast clones obtained from three obligate and three suspected Menkes disease heterozygotes was studied. For each obligate heterozygote, two clonal cell populations were observed, one with a Menkes phenotype and one with a normal phenotype, as predicted by the Lyon hypothesis. The cloning results suggested a heterozygous state in two of the suspected carriers. The theoretical and practical limitation of the cloning method for identification of carriers of X linked diseases are discussed.
mesh_terms: D001928:Brain Diseases, Metabolic / Q000235:genetics*; D002478:Cells, Cultured; D002999:Clone Cells / Q000378:metabolism*; D003300:Copper / Q000378:metabolism*; D005069:Evaluation Studies as Topic; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D008040:Genetic Linkage; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000378:metabolism; D014960:X Chromosome
chemical_list: D003300:Copper