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Partial lyonisation of steroid sulphatase gene in single hair roots
Author(s) -
Willems P. J.,
Bruijn H. W. A.,
Groenhuis A.,
Mooyaart B. R.,
Berger R.
Publication year - 1986
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/bf01799452
Subject(s) - medicine , endocrinology , heterozygote advantage , steroid sulfatase , biology , obligate , steroid , gene , genotype , genetics , botany , hormone
Steroid sulphatase (STS) activity was measured in single hair roots from 9 patients with X‐linked ichthyosis, 7 obligate heterozygotes, 12 male controls and 12 female controls. STS activity was deficient (<0.3 pmol dehydroepian‐drosterone (DHEA) in 5 h per hair root) in the patients as compared to male controls (4.6±1.8 pmol DHEA in 5 h per hair root). All single hair roots from obligate heterozygotes showed STS activity (3.0±0.9 pmol DHEA in 5 h per hair root). Female controls had a significantly higher STS activity (6.0±1.8 pmol DHEA in 5 h per hair root) than male controls ( p <0.05) and heterozygotes ( p <0.001). Both the female‐male sex ratio of control STS activity (1.3) and the absence of STS‐deficient hair roots in heterozygotes confirm previous evidence for incomplete lyonisation of the X‐linked steroid sulphatase gene.