Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.11.8 (FAST)
 758 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of this study was to determine the allergen skin test positivity and total serum IgE of adult patients in Singapore with clinical features suggestive of allergic rhinitis. The study was carried out prospectively from January to August 1990. All patients had one or more of three symptoms (1) rhinorrhoea or nasal congestion, (2) itching nose or throat and (3) sneezing, as well as pale edematous nasal mucosa. Twenty inhalant allergens (Greers Laboratory, USA) were used for skin prick test (SPT). Serum total IgE was measured using 3M FAST test. Eighty-five consecutive patients, 54 males and 31 females, were studied. Their mean age (SD) was 26.8 (6.1) years. More than half (55.3%) had severe symptoms affecting work. Twenty percent did not have any positive skin reaction compared with 44.9% of age-matched healthy controls; 62.4% had 2 or more positive reactions compared to only 37.2% of controls. These differences were statistically significant (p < 0.002). The two most commonly, positive allergens were Dermatophagoides farinae (76.5%) and house dust (61.2%). No significant difference was found in the skin test positivity between males and females. Forty-three patients also had serum total IgE measurement and their geometric mean IgE was 240 IU/I which was significantly higher than the geometric mean IgE of healthy controls (88 IU/I, P = 0.0005).
Asian Pac J Allergy Immunol 1996 Jun
PMID:Allergen skin test and total IgE in adults with rhinitis in Singapore. 898 Jul 94

Alpha-1 antitrypsin (A1AT or AAT) is a serine protease inhibitor (PI) which, when present at low levels, can cause chronic obstructive pulmonary disease (COPD) and liver disease in both children and adults. Several mutations within the SERPINA1 gene have been found to cause this deficiency. The most common variants are PI*Z and PI*S, each caused by a single nucleotide polymorphism (SNP). We describe a real time polymerase chain reaction (PCR) assay for the rapid genotyping of these polymorphisms. DNA was extracted from fourteen EDTA-anticoagulated whole blood samples using the Qiagen EZ1 blood extraction kit. SNP genotyping was performed using primer/probe sets purchased from Applied Biosystems. These were evaluated for performance and assay conditions on the Applied Biosystems 7500 FAST System. The genotypes of these samples were compared with their phenotype results from isoelectric focusing assays, which were performed by an independent reference laboratory. In addition, twenty samples that were previously genotyped at another laboratory were obtained for accuracy studies. Thirty-four samples were tested; five genotypes were represented and the assay was able to discriminate these successfully. Only one genotype could not be correlated with its phenotype result, as the phenotype was reported as an "unidentified allele". All other genotyping results were concordant with previously determined genotypes and phenotypes. We describe a rapid real time PCR assay that is suitable for clinical use in genotyping AAT alleles and which can be used as the initial step in A1AT testing algorithms.
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PMID:Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency. 1995 52