Diagnosis of a deletion of steroid sulfatase by polymerase chain reaction and high-performance liquid chromatography

Clinica Chimica Acta

Volumn 263, Issue 1, 1997, Pages 25-32

  Sugawara, Teruo ^a   Iwaki, Masanori ^a   Fujimoto, Seiichiro ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

Author keywords

PCR HPLC; Steroid sulfatase; X linked ichthyosis

Indexed keywords

STERYL SULFATASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ICHTHYOSIS; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ARYLSULFATASES; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; EVALUATION STUDIES; FEMALE; GENE DELETION; GLOBINS; HETEROZYGOTE DETECTION; HUMANS; ICHTHYOSIS, X-LINKED; MALE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; STERYL-SULFATASE;

EID: 0030754568     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(97)06552-2     Document Type: Article

References (14)

1. Shapiro LJ. Steroid sulfatase deficiency and X-linked ichthyosis. In: Scriver CR, Beauder A, Sly WS, Valle D, editors. The metabolic basis of inherited disease, 6th ed. New York: McGraw-Hill, 1989:1945-64.
2. Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell 1987;49:443-54.
3. Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connolly L, Neiswanger K, Shapiro LJ. The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 1988;55:1123-35.
4. Yen PH, Li XM, Tsai SP, Johnson C, Mohandas T, Shapiro LJ. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive element. Cell 1990;61:603-10.
5. Sugawara T, Honke K, Fujimoto S, Makita A. Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction. Jpn J Hum Genet 1983;38:421-28.
6. Asakawa J, Satoh C, Yamasaki Y, Chen S. Accurate and rapid detection of heterozzygous carriers of a deletion by combined polymerase chain reaction and high-performance liquid chromatography. Proc Natl Acad Sci USA 1992;89:9126-30.
7. Blin N, Stafford DW A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 1976;3:2303.
8. Kogan SC, Doherty M, Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med 1987;317:985-90.
9. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;16:11141-56.
10. Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamaki K, Sawamura D, Hashimoto I. A study of steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Dermato-Venereol 1995;75:340-42.
11. Gilliland G, Perrin S, Blanchard K, Bunn HF. Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction. Proc Natl Acad Sci USA 1990;87:2725-9.
12. van Hille B, Lohri A, Reuter J, Herrmann R. Nonradioactive quantification of mdrl mRNA by polymerase chain reaction amplification coupled with HPLC. Clin Chem 1995;41:1087-93.
13. Vollmar AM, Schulz R. Expression and differential regulation of natriuretic peptides in mouse macrophages. J Clin Invest 1995;95:2442-50.
14. Henninger HP, Hoffmann R, Grewe M, Schulze Specking A, Decker K. Purification and quantitative analysis of nucleic acids by anion-exchange high-performance liquid chromatography. Biol Chem Hoppe-Seyler 1993;374:625-34.