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A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction.

Abstract
We have studied the steroid sulfatase (STS) gene in three Japanese families with X-linked ichthyosis (XLI), using polymerase chain reaction (PCR). PCR was performed using three sets of intraexonic primers covering exons 1, 5 and 10. In affected individuals from two of the families, DNA was not amplified in any of the three exons, suggesting that XLI in these families was due to the complete deletion of the STS gene. In affected individuals in the remaining family, DNA was amplified in predicted sizes in exons 1 and 5, but not in exon 10, suggesting that XLI in this family was due to partial deletion of the STS gene including exon 10. These results suggested that STS gene deficiency is heterogeneous in Japanese families with XLI. PCR is useful for the rapid diagnosis of XLI, the differentiation of XLI from ichthyosis vulgaris, and genetic counseling of XLI families. The PCR method was not applicable for carrier detection.
AuthorsK Nomura, H Nakano, K Umeki, K Harada, A Kon, K Tamai, D Sawamura, I Hashimoto
JournalActa dermato-venereologica (Acta Derm Venereol) Vol. 75 Issue 5 Pg. 340-2 (Sep 1995) ISSN: 0001-5555 [Print] Sweden
PMID8615047 (Publication Type: Case Reports, Journal Article)
Chemical References
  • DNA Primers
  • Arylsulfatases
  • Steryl-Sulfatase
Topics
  • Adolescent
  • Arylsulfatases (deficiency, genetics)
  • Child
  • DNA Primers
  • Exons (genetics)
  • Gene Amplification
  • Gene Deletion
  • Genetic Carrier Screening
  • Genetic Counseling
  • Humans
  • Ichthyosis Vulgaris (diagnosis, genetics)
  • Ichthyosis, X-Linked (enzymology, genetics)
  • Japan
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Steryl-Sulfatase

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