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Hair root analysis in X‐linked ichthyosis
Author(s) -
Dancis J.,
Jansen V.,
Hutzler J.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02310876
Subject(s) - ichthyosis , steroid sulfatase , endocrinology , medicine , ichthyosis vulgaris , heterozygote advantage , biology , in vivo , enzyme , steroid , enzyme assay , population , epidermis (zoology) , genetics , gene , anatomy , biochemistry , genotype , atopic dermatitis , filaggrin , immunology , environmental health , hormone
Abstract Hair roots have been analysed in a large kindred with X‐linked ichthyosis associated with steroid sulphatase deficiency. Enzyme activity in individual hair roots was assayed for the steroid sulphatase: neutral α‐glucosidase ratio, the latter serving as an indicator of the general metabolic activity of the hair root. The distribution of the enzyme ratios in the individual hair roots in the heterozygotes described a normal curve suggesting origin from a single population of cells. The results differed strikingly from the irregular distribution of enzyme activities in hair roots of Lesch‐Nyhan disease, where mosaicism occurs. It is suggested that the maternal and paternal genes for steroid sulphatase remain active in vivo in each cell in the hair root in apparent contradiction to the Lyon hypothesis. The observation is consistent with that previously reported for skin fibroblasts in vitro . Sulphatase activity in female controls was minimally greater than in males but the difference was not statistically significant.