Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.
The 64Cu incorporation into uncloned fibroblast cultures from 16 Menkes disease mothers and 19 first and second degree female relatives was examined. The mean incorporation for the Menkes disease mothers (36.2 +/- 3.6 SEM) differed significantly from that of 25 normal subjects (21.7 +/- 0.9 SEM) suggesting the presence of a significant proportion of mutant cells. In addition, the results suggested a heterozygous state in a number of the female relatives. Uncloned fibroblast cultures from four Menkes disease heterozygotes showed increasingly abnormal copper uptake values after repeated freezing procedures. Manipulation of tissue cultures may help to identify a number of female carriers.
D001928:Brain Diseases, Metabolic / Q000235:genetics*; D002478:Cells, Cultured; D003300:Copper / Q000378:metabolism; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D011868:Radioisotopes; D012867:Skin / Q000378:metabolism; D014960:X Chromosome
D011868:Radioisotopes; D003300:Copper