Identification of cystic fibrosis homozygotes and heterozygotes by isoelectric focussing of serum proteins

Getliffe, Kathryn; Ward, Leigh C.; Shepherd, R. W.

doi:10.1007/bf01800484

Cited by 3 publications

(1 citation statement)

References 22 publications

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“…However, the function of any of these factors in the pathogenesis of CF is still unknown. Despite the fact that the CFP gene has been assigned to chromosome 1 and the gene defect responsible for CF is known to be on chromosome 7, it may be that the CF gene product coded for on chromosome 7 is a processing protein for CFP (23). When processing is altered by the CF gene mutation, CFP accumulates in body fluids and a variety of cells.…”

Section: Discussionmentioning

confidence: 99%

Detection of cystic fibrosis protein by isoelectric focusing and silver staining in serum, dried whole blood, and cultured fibroblasts

Vladutiu

Ryan

Cropp

1988

Clinical Laboratory Analysis

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Experimental conditions were developed for visualizing cystic fibrosis protein (CFP) in cultured fibroblasts from patients with cystic fibrosis (CF) while improving the visualization of CFP in serum. Serum, whole dried blood and cultured skin fibroblast extracts derived from CF homozygotes, heterozygotes, and normal individuals were submitted to isoelectric focusing (IEF) in polyacrylamide gels using a pH gradient of 7.1 to 9.3 and stained for protein with silver. The results showed an improvement in the separation of bands in the cathodal region over that obtained with a pH gradient of 3.5 to 10 and a better visualization of CFP bands than provided with Coomassie blue. Serum IgG could be removed from the cathodal region by including Protein A on the gel during IEF, thus enabling better visualization of CFP bands. With cultured fibroblast extracts, CFP was only observed when gels were stained with silver. This study presents improved sensitivity of a potential diagnostic tool in CF and its use with cultured skin fibroblasts.

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Section: Discussionmentioning

confidence: 99%

Detection of cystic fibrosis protein by isoelectric focusing and silver staining in serum, dried whole blood, and cultured fibroblasts

Vladutiu

Ryan

Cropp

1988

Clinical Laboratory Analysis

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Cystic fibrosis proteins detected by electrophoretic techniques

Guy-Crotte¹,

Barthe²,

Figarella³

1989

Electrophoresis

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For the detection of the cystic fibrosis protein (CFP) in serum of cystic fibrosis (CF) carriers, thin-layer polyacrylamide gel isoelectric focusing proved inappropriate as a diagnostic test, but was useful for screening fractions on purification of CFP by chromatofocusing on a Mono P column. On sodium dodecyl sulfate-polyacrylamide gel electrophoresis an Mr 12,000 protein (P12) was found in most CFP-positive sera, indicating good correlation between these two CF-associated proteins. Detection of the P12 protein by sodium dodecyl sulfate-polyacrylamide gel electrophoresis was well reproducible and less delicate than IEF. The technique was also used to purify P12 from serum by two successive preparative electrophoresis steps in a 7.5-15% gradient and 15% homogeneous gel. The use of silver staining revealed that P12, which was present in all sera of CF patients and carriers with variable intensities, was also present in trace amounts in normal sera.

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Diagnosis of cystic fibrosis

Shepherd

1988

J Paediatrics Child Health

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Diagnosis of Cystic Fibrosis Not long ago a diagnosis of cystic fibrosis carried with it in most cases the probability of death within a very few years. The improvement in life expectancy now is largely the result of active treatment and the introduction of more effective antibiotics. There is also strong evidence' that early diagnosis has improved the chances of survival. Early memories die hard, and for many a doctor the term cystic fibrosis recalls a wasted, pot-bellied infant with grossly clubbed fingers seen during a ward round as a medical student. The newborn baby with cystic fibrosis loo'ks perfectly normal; so may the toddler and even the older child. It is only after recurrent respiratory infection or prolonged malabsorption that the characteristic appearance is seen. The triad of failure to thrive, an exceptionally good appetite, and offensive, rather loose stools should be sufficient to require laboratory tests for cystic fibrosis to be carried out. The story of persistently abnormal stools, frequent or bulky, greasy, pale, and offensive even when the child is well nourished, should lead the doctor to consider cystic fibrosis as the diagnosis, especially if the child's appetite is said to be good. A cough should be considered

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Identification of cystic fibrosis homozygotes and heterozygotes by isoelectric focussing of serum proteins

Cited by 3 publications

References 22 publications

Detection of cystic fibrosis protein by isoelectric focusing and silver staining in serum, dried whole blood, and cultured fibroblasts

Detection of cystic fibrosis protein by isoelectric focusing and silver staining in serum, dried whole blood, and cultured fibroblasts

Cystic fibrosis proteins detected by electrophoretic techniques

Diagnosis of cystic fibrosis

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