Rapid detection of cystic fibrosis transmembrane conductance regulator gene IVS8 5T variant by real-time PCR.

with specific marker proteins in routine laboratories , in which nephelometric instrumentation is frequently available but manpower is limited and the expert knowledge required to interpret proteinuria is lacking. improved pyrogallol red-molybdate method for determining total urinary protein. Urinary protein as measured with a pyrogallol red-molybdate complex, manually and in a Hitachi 726 automated analyzer. Effects of low and high relative molecular protein mass on four methods for total protein determination in urine. Total protein determination in urine: elimination of a differential response between the Coomassie blue and pyrogallol red protein dye-binding assays. Clin Chem 2000;46:392– 8. 9. Le Carrer D, Chopin N. Profil protéique urinaire: proposition d'un protocole d'exploration biologique des protéinuries. Diagnostic significance of SDS-PAA-electrophoresis of urinary proteins: different forms of proteinuria and their correlation to renal diseases. A new strategy for characterizing proteinuria and haematuria from a single pattern of defined proteins in urine. ward: graphically oriented report forms. Presentation of complex, interrelated laboratory data for electrophoresis/immunofixation, cerebrospinal fluid, and urinary protein profiles. The relationship between the renal clearance of creatinine and the apparent renal clearance of ␤-2-microglobulin in patients with normal and impaired kidney function. Quantification of proteinuria: a re-evaluation of the protein/creatinine ratio for elderly subjects. excretion of IgG and ␣(1)-microglobulin predicts clinical course better than extent of proteinuria in membranous nephropathy. Cystic fibrosis (CF) is the most common autosomal reces-sive disease in Caucasian populations and is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The CFTR gene encodes a transmem-brane protein that forms a cAMP-regulated chloride channel. Wide variations in disease manifestations are observed among affected CF patients, and a multitude of disease-causing mutations have been found in the CFTR gene (1). In 97% of men with CF, bilateral congenital absence of the vas deferens (CBAVD) blocks the transport of spermatozoa from testicular structures to the distal genital tract, causing azoospermia (2). Infertility attributable to CBAVD does not necessarily coincide with other manifestations of CF. CBAVD accounts for ϳ1–2% of all male infertility and at least 6% of the cases of obstructive azoospermia. Isolated CBAVD patients carry either a CF mutation (⌬F508 in 16 – 83% of cases and R117H in 6 –29% of cases) and/or a 5T variant in intron 8 (12– 47% of patients), supporting the hypothesis that CBAVD represents a mild, primary genital form of CF (2–7). Three length variations of a polythymidine (polyT) tract within the splice …