Document Detail

Molecular analysis of X-linked ichthyosis in Japan.
MedLine Citation:
PMID:  11910205     Owner:  NLM     Status:  MEDLINE    
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.
T Sugawara; Y Fujimoto; S Fujimoto
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Hormone research     Volume:  56     ISSN:  0301-0163     ISO Abbreviation:  Horm. Res.     Publication Date:  2001  
Date Detail:
Created Date:  2002-03-22     Completed Date:  2002-07-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0366126     Medline TA:  Horm Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  182-7     Citation Subset:  IM    
Copyright Information:
Copyright 2002 S. Karger AG, Basel
Department of Biochemistry, Hokkaido University School of Medicine, Sapporo, Japan.
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MeSH Terms
Arylsulfatases / deficiency*,  genetics*,  metabolism
Base Sequence / genetics
COS Cells / metabolism
DNA, Complementary / physiology
Gene Deletion*
Ichthyosis, X-Linked / genetics*,  metabolism
Lymphocytes / enzymology
Metabolism, Inborn Errors / genetics*,  metabolism
Placenta / enzymology
Point Mutation / genetics
Reg. No./Substance:
0/DNA, Complementary; EC; EC

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