While cystic fibrosis transmembrane conductance regulator (CFTR) is well known to function as a Cl(-) channel, some mutations in the channel protein causing cystic fibrosis (CF) disrupt another vital physiological function, HCO(3)(-) transport. Pathological implications of derailed HCO(3)(-) transport are clearly demonstrated by the pancreatic destruction that accompany certain mutations in CF....

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 auto...

Establishment of stably ebv-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing. al. Genetically characterized positive control cell lines derived from residual clinical blood samples.range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of ...

BACKGROUND: Since it is impossible to sequence the complete CFTR gene routinely, clinical laboratories must rely on test systems that screen for a panel of the most frequent mutations causing disease in a high percentage of patients. Thus, in a cohort of 257 persons that were referred to our laboratory for analysis of CF gene mutations, reverse line probe assays for the most common CF mutations...

EDITOR—A g.133283G>A (nomenclature in accordance with Rowen et al) single base change in exon 3 of the cationic trypsinogen gene or T4, resulting in an Arg (CGC) to His (CAC) substitution at amino acid residue 122 (R122H, originally named R117H in the chymotrypsin numbering system; nomenclature discussed in detail in Chen and Ferec) of the cationic pretrypsinogen, was shown to be associated wit...

Over the last few decades, the paradigm has shifted as cystic fibrosis (CF) is no longer a fatal disease of childhood and should be considered a chronic condition where survival into adulthood is expected. Median survival for current newborns is predicted to be at least 50 years and over 55% of patients in the UK are adults. Over these decades, our knowledge of the underlying pathophysiology ha...

Since the cloning of the cystic fibrosis transmembrane regulator (CFTR) protein in the late 1980s and subsequent significant advances in understanding the pathophysiology of cystic fibrosis (CF) there have been high expectations that transformative, disease-modifying therapies could be developed. 2 Dysfunction of the CFTR protein results in significant reduction or absence of chloride transport...

The Journal of Clinical Investigation | February 1999 | Volume 103 | Number 4 447 It has been nearly 10 years since the identification and cloning of the cystic fibrosis (CF) gene was announced (1). Despite rapid advances in our understanding of the molecular determinants of the disease, CF remains one of the most common lethal inherited autosomal recessive disorders in the Caucasian population...