Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.
Open Access
- 1 August 1980
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (4) , 257-261
- https://doi.org/10.1136/jmg.17.4.257
Abstract
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.This publication has 13 references indexed in Scilit:
- Menkes X linked disease: two clonal cell populations in heterozygotes.Journal of Medical Genetics, 1980
- Menkes Syndrome: Subcellular Distribution of Copper Determined by an Ultrastructural Histochemical TechniqueUltrastructural Pathology, 1979
- Cell culture studies of menkes kinky hair diseaseClinica Chimica Acta; International Journal of Clinical Chemistry, 1978
- Is Menkes syndrome a copper storage disorder?Clinical Genetics, 1978
- 64Cu Metabolism in Menkes and Normal Cultured Skin FibroblastsPediatric Research, 1978
- COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASEThe Lancet, 1976
- Menkes disease: a biochemical abnormality in cultured human fibroblasts.Proceedings of the National Academy of Sciences, 1976
- Extra-hepatic storage of copperHuman Genetics, 1975
- Demonstration of the heterozygous state in Hunter's syndrome.1974
- X‐CHROMOSOME INACTIVATION AND DEVELOPMENTAL PATTERNS IN MAMMALSBiological Reviews, 1972