Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification |
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| Authors: | Andrea Ballabio Joel E. Ranier Jeffrey S. Chamberlain Massimo Zollo C. Thomas Caskey |
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| Affiliation: | (1) Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, 77030 Houston, TX, USA;(2) Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030 Houston, TX, USA;(3) International Institute of Genetics and Biophysics, CNR, Via Marconi 10, Naples, Italy;(4) Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030 Houston, TX, USA;(5) Present address: Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA |
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| Abstract: | Summary 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.On leave from Department of Pediatrics, University of Reggio Calabria, Italy |
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