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Home >> Dictionary of Bioinformatics, Biochemistry, Biotechnology >> Familial Adenomatous Polyposis Coli (FAP), FASTA Format
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FAK See focal adhesion kinase.
False-negative 1. A true match that fails to be recognised by a discriminator. 2. Patients who have been wrongly identified by the test as free from the disease.
2. Patients who have been wrongly identified by the test as free from the disease.
False-positive 1. A false match that is incorrectly recognised by a discriminator. 2. Those individuals who are wrongly diagnosed by the test as affected.
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Familial cancer Refers to the familial occurrence of cancer (> 1 case in a family), that is not necessarily due to an inherited cancer predisposition.
Familial combined hyperlipidaemia (type V) An autosomal dominant trait. Three different lipoprotein patterns can be obtained in affected subjects-hyper-cholesterolaemia (IIa), hypertriglyceridaemia (IV), and both hypercholesterolaemia and hypertriglyceridaemia (IIb). Plasma HDL is below normal. Hyperlipidaemia is aggravated by diabetes, hypothyroidism and alcohol.
Familial dysalbuminaemic hyperthyroxinaemia (FDH) A disorder inherited as an autosomal dominant trait in which an albumin variant with an unusually high affinity of T4 is present in high concentration in plasma. As a consequence, the total T4 is increased but free T4 is normal. Such disorders in which free T4 is normal and total T4 is elevated due to increased binding to plasma proteins are said to constitute a state of euthyroid hyperthyroxinaemia.
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Familial dysbetalipoproteinaemia (type III) Also known as broad b disease. It is transmitted by a single-gene mutation and requires additional environmental and/or genetic factors. Hyperlipoproteinaemia is due to a defect in the clearance of chylomicrons and VLDL remnants attributed to an abnormality in ape E found in these remnants.
Familial hyperalphalipoproteinaemia A rare condition characterised by increased plasma levels of HDL with normal LDL, VLDL and triglyceride concentrations. The elevation in HDL is mostly genetic, although such as chlorinated hydrocarbon pesticides, alcohol and oestrogens have been implicated. Individuals with familiar hyperalphalipoproteinaemia have slightly increased longevity and are protected against myocardial infarction
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Familial hypercholesterolaemia (type II) An autosomal dominant disorder characterised by abnormally high serum cholesterol levels that leads to early onset of atherosclerosis and heart attack. It is accompanied by an elevation of LDL and sometimes VLDL. It is subdivided into IIa and IIb. Type IIa may result from defective LDL receptors or mutation in the ligand region of apo B-100. In Type IIb, there is an increase in VLDL in addition to LDL.
Familial hypertriglyceridaemia (type IV) A common, autosomal dominant disorder characterised elevation of plasma VLDL. The disease usually presents in puberty or early adulthood. Clinically, type IV is characterised by the triad of obesity, hyperglycaemia and hyperinsulinaemia.
Familial hypocalciuric hypercalcaemia A condition inherited as an autosomal dominant trait that is characterised by chronic hypercalcaemia and low phosphate with normal or slightly elevated PTH levels.
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Familial iminoglycinuria An autosomal recessive condition in which there is a defect in the transport of glycine and the imino acids-proline and hydroxyproline.
There is increased excretion of these amino acids in the urine despite normal plasma concentrations. The condition is benign.
Familial lipoprotein lipase deficiency (type I) A rare, autosomal recessive disorder due to the deficiency of the enzyme lipoprotein lipase or apoprotein CII. As a result, there is a block in the metabolism of chylomicrons, leading to massive accumulation of chylomicrons in circulation, particularly after a high fat diet. The plasma appears pale and creamy due to lipaemia.
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Familial Mediterranean fever A genetic disease characterised by recurrent fever, inflammation of the abdominal cavity, abdominal pain, arthritis, chest pain and skin rashes.
Familial adenomatous polyposis coli (FAP) An autosomal dominant disorder that predisposes to the development of colorectal cancer. It is characterised by the presence of thousands of colorectal adenomas, some of which may undergo neoplastic transformation. Germline mutations in the APC gene of chromosome 5q have been shown to to be responsible for the development of FAP.
Fanconi syndrome A renal tubular disorder characterised by increased excretion of phosphate, glucose, potassium, amino acids and urate.
FAQ A computer file of frequently asked questions.
Farber’s diseases A fatal lipid storage disease characterised by a deficiency of ceramidase.
Fas (CD95, Apo-1) A member of the tumour necrosis factor (TNF) receptor superfamily located in the plasma membrane of a cell committed to undergo apoptosis. Fas is a 48 kDa type I transmembrane receptor that initiates apoptosis after binding to its ligand, Fas ligand (FasL). Binding to FasL leads to trimerisation of the receptor and recruitment of the cytosolic adaptor protein Fas-associated death domain (FADD). Interaction of Fas with FADD recruits procaspase-8/10 to form death inducing signaling complex (DISC) that induces activation of caspase-8 or caspase-10 which cleaves substrates such as procaspase-3 and Bid resulting in the formation of active caspase-3 and truncated Bid (tBid) to initiated the cell death process.
Fas associated death domain (FADD) Also known as MORT-1. It is an apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas or TNF-RI receptors. See Fas.
FasL The ligand that binds to Fas to initiate the death receptor pathway of apoptosis.
Fast component The first component to renature in a reassociation reaction. It contains highly repetitive DNA.
Fast liver fraction The hepatic isoenzymes of alkaline phosphatase (ALP) that exhibits increased mobility on electrophoresis. Determination of the fast liver fraction is a sensitive indicator of cholestasis and liver malignancy.
FASTA 1. A sequence alignment algorithm. 2. A flat file format for the representation of sequence data.
FASTA format A sequence format that begins with a single line description followed by lines of sequence data. The description line is differentiated from the sequence data by a greater than (‘>’) symbol. This format can be used as a query input when searching bioinformatics tools such as BLAST. FASTA files allow lower-case letters for the amino acids. Files in this format commonly have the extension ‘fasta’.
Fastidious Pertaining to microorganisms with complex nutritional requirements, requiring enriched media.
Fasting hypoglycaemia Hypoglycaemia in which symptoms occur in the night or in the early morning, precipitated by fasting or strenuous exercise. This results from an imbalance between hepatic production and peripheral utilisation of glucose. Decreased hepatic glucose production and increased utilisation can cause hypoglycaemia.
Fat Storage form of energy. It is stored in the adipose tissue as triglycerides. When energy is required, the adipose tissue triglycerides are hydrolysed and fatty acids are released by the action of a hormone-sensitive lipase. The fatty acids undergo b-oxidation to yield energy.
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