Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
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Deletions are the most common molecular defect in steroid sulfatase (STS) deficiency. We describe the application of multiplex DNA amplification, by polymerase chain reaction, for deletion screening in patients with STS deficiency (STS-PCR). Genomic DNA from 38 unrelated patients was amplified using two sets of primers, corresponding to the 5′ and the 3′ ends of the STS gene. The analysis of the amplified products was always consistent with the results obtained by Southern analysis. This method represents a sensitive fast non-radioactive test for detecting STS gene deletions.
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- Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Boyd Y, Craig I, Rocchi M, Romeo G, Jobsis AC, Persico MG (1987) Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci USA 84:4519–4523Google Scholar
- Ballabio A, Carrozzo R, Parenti GF, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, Frants RR, Eriksson AW, Andria G (1989a) Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 4:36–40Google Scholar
- Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guioli S, Camerino G (1989b) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci 86:10001–10005PubMedGoogle Scholar
- Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141–11156Google Scholar
- Erlich HA (ed) (1989) PCR technology; principles and applications of DNA amplification. Stockton Press, New YorkGoogle Scholar
- Shapiro LJ (1989) Steroid sulfatase deficiency and X-linked ichthyosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1945–1964Google Scholar
- Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ (1987) Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X/Y interchange. Cell 49:443–454Google Scholar
- Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connolly L, Neiswanger K, Shapiro LJ (1989) The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55:1123–1135Google Scholar