In Vitro Studies in Sulfatide Lipidosis
Recent developments in human somatic cell genetics now permit the detailed in vitro evaluation of many mutant genotypes of man. Large, relatively uniform populations of diploid human cells can be cultivated from a simple skin biopsy. For prolonged periods, these fibroblastic cells reflect the chromosomal composition and many parameters of biochemical function of the individual from whom the skin sample was obtained. The biochemical abnormality associated with many recessive genetic disorders and particularly those defects associated with the sphingolipidoses and related conditions can now be demonstrated in this in vitro system with easily obtained material with little morbidity, and with minimal expense. Previously such studies could only be achieved in post mortem tissues or in material obtained by surgical biopsy of liver, nerve, brain, etc.
KeywordsSkin Fibroblast Metachromatic Leukodystrophy Fetal Skin Amniotic Fluid Cell Obligate Heterozygote
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