RRC ID 41528
著者 Sugawara T, Fujimoto Y, Fujimoto S.
タイトル Molecular analysis of X-linked ichthyosis in Japan.
ジャーナル Horm Res
Abstract BACKGROUND:X-linked ichthyosis (XLI) is an inherited skin disorder caused by a deficiency of steroid sulfatase (STS). The gene and protein of STS were examined in 19 Japanese patients with XLI.
RESULTS:In Western blotting analysis, no cross-reacting peptide was detected in the patients' placenta, although a single band (63 kD) corresponding to STS in a normal subject was observed. Southern blotting was performed using EcoRI digests of cellular DNA from 13 XLI patients and full-length human STS cDNA as a probe. Normal males had bands of 20, 15, 10, 9.0, 6.1, 4.2, 2.6, and 1.5 kb. Twelve of the 19 patients had only 20- and 1.5-kb bands. Only one patient had the same band pattern as that of normal males. The STS gene was analyzed by PCR in 6 of the 19 patients. PCR amplification products were sequenced to analyze the STS gene. Two cases with one-base change in the STS gene and variation in amino acids H444R and E560P were found. Mutant STS cDNA was transfected into COS-1 cells and the STS enzyme activity was assayed. The enzyme activities were less than the minimum detection value of the detection system.
CONCLUSIONS:These results suggest that XLI is mainly caused by an extensive deletion of the STS gene and that the PCR method is useful for detection of STS point mutations.
巻・号 56(5-6)
ページ 182-7
公開日 2001-1-1
DOI 10.1159/000048116
PII 48116
PMID 11910205
MeSH Animals Arylsulfatases / deficiency* Arylsulfatases / genetics* Arylsulfatases / metabolism Base Sequence / genetics COS Cells / metabolism DNA, Complementary / physiology Female Gene Deletion* Genome* Humans Ichthyosis, X-Linked / genetics* Ichthyosis, X-Linked / metabolism Lymphocytes / enzymology Male Metabolism, Inborn Errors / genetics* Metabolism, Inborn Errors / metabolism Placenta / enzymology Point Mutation / genetics Pregnancy Steryl-Sulfatase Transfection
引用数 5
WOS 分野 ENDOCRINOLOGY & METABOLISM
リソース情報
ヒト・動物細胞 COS-1(RCB0143)