Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis

British Journal of Dermatology

Volumn 139, Issue 1, 1998, Pages 96-98

  Saeki, H ^a   Kuwata, S ^b   Nakagawa, H ^c   Shimada, S ^d   Tamaki, K ^a   Ishibashi, Y ^e  

^a UNIVERSITY OF TOKYO   (Japan)

^b TEIKYO UNIVERSITY   (Japan)

^c JICHI MEDICAL UNIVERSITY   (Japan)

^d UNIVERSITY OF YAMANASHI   (Japan)

^e TOKYO TEISHIN HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

STERYL SULFATASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DNA FLANKING REGION; GENE DELETION; HUMAN; ICHTHYOSIS; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ARYLSULFATASES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; HUMANS; ICHTHYOSIS, X-LINKED; INFANT; JAPAN; MIDDLE AGED; POLYMERASE CHAIN REACTION; STERYL-SULFATASE; X CHROMOSOME;

EID: 0031819644     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1998.02320.x     Document Type: Article

References (12)

1. Yen PH, Marsh B, Allen E et al. The human X-linked steroid sulfatase gene bind a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 1988; 55: 1123-35.
2. Ballabio A, Carrozzo R, Parenti G et al. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 1989; 4: 36-40.
3. Yen PH, Li X-M, Tsai SP et al. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 1990; 61: 603-10.
4. Sugawara T, Honke K, Fujimoto S, Makita A. Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichythyosis by using polymerase chain reaction. Jpn J Hum Genet 1993; 38: 421-8.
5. Okano M, Kitano Y, Nakamura T, Matsuzawa Y. Detection of heterozygotes of X-linked ichthvosis by measuring steroid sulphatase activity of lymphocytes. Mode of inheritance in three families. Br J Dermatol 1985; 113: 645-9.
6. Schaefer L, Ferrero GB, Grillo A et al. A high resolution deletion map of human chromosome Xp22. Nature Genet 1993; 4: 272-9.
7. Todd JA, Bell JI, McDevitt HO. HLA-DQb gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 1987; 329: 599-604.
8. Maniatis T, Fritsch EF, Sambrook J. Molecular Cloning. A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1982: 280-1.
9. Saiki RK, Gelfand DH, Stoffel S et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-91.
10. Ballabio A, Ranier JE, Chamberlain JS et al. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 1990; 84: 571-3.
11. Ballabio A, Bardoni B, Guioli S et al. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletion in this region. Genomics 1990; 8: 263-70.
12. Yen PH, Tsai S-P, Wenger SL et al. X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. Proc Natl Acad Sci USA 1991; 88: 8944-8.