Hair root analysis in X-linked ichthyosis.
Hair root analysis in X-linked ichthyosis.
复制标题
X连锁鱼鳞病的发根分析。
DOI：
10.1007/bf02310876
复制
发表时间：
1983
影响因子：
4.2
通讯作者：
Hutzler,J
中科院分区：
文献类型：
--
作者：
Dancis,J;Jansen,V;Hutzler,J
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 activein vivoin each cell in the hair root in apparent contradiction to the Lyon hypothesis. The observation is consistent with that previously reported for skin fibroblastsin vitro. Sulphatase activity in female controls was minimally greater than in males but the difference was not statistically significant.
