Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.
AUTOR(ES)
Horn, N
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048565Documentos Relacionados
- Menkes X linked disease: two clonal cell populations in heterozygotes.
- A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.
- Menkes' disease: neurophysiological aspects.
- Fabry's disease: specific inclusions found on electron microscopy of fibroblast cultures
- Menkes disease: recent advances and new aspects.