Protein profiling in urine for the diagnosis of bladder cancer.

(all multiplex PCRs are amplified in ϳ2.5 h, and the capillary gel electrophoresis of the pooled PCR products takes ϳ30 min), easy to perform, detects ϳ99% patients with macrodeletions and 89% with macrodupli-cations, and identifies small insertions or deletions. In conclusion, this method detects Ͼ70% of mutations in DMD/BMD families and can be easily applied to the screening of at-risk female carriers, i.e., symptomatic females and females with increased serum creatine kinase and no clinical evidence of muscle disease (18), or when the sample of an affected male is not available.logico dell'area metropolitana di Napoli, from Regione Campania (L. 41) and from MIUR-Cluster 04. We are grateful to J.A. Gilder for revising and editing the text. detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymor-phisms. carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females. Accurate diagnosis of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophore-sis. Amplification of 18 dystrophin gene exons in DMD/BMD patients: simultaneous resolution by capillary electrophoresis in sieving liquid polymers. Application of capillary nongel sieving electrophoresis for gene analysis.sive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy. intron 12 of the dystrophin gene for deletion detection by multiplex PCR. At present, the most reliable means of diagnosis and surveillance of bladder cancer are cystoscopic examination and bladder biopsy for histologic confirmation. The invasive and labor-intensive nature of this procedure underscores the need to develop better, less costly, and nonsurgical diagnostic tools (1, 2). Use of surface-enhanced laser desorption/ionization (SELDI) time-of-flight mass spectrometry has been successful in facilitating protein profiling of complex biological mixtures. This technology uses chemical affinity platforms to capture protein molecules from various biological sources. Retained proteins are subsequently analyzed by mass spec-trometry [reviewed in Ref. (3)]. Recent reports provide evidence that analysis of SELDI data by " learning " algorithms can lead to the identification of serum protein " fingerprints " for prostate, ovarian, and …