論文 - 詳細
RRC ID | 41528 |
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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) |