Using mutagenic polymerase chain reaction primers to detect carriers of familial defective apolipoprotein B-100
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چکیده
منابع مشابه
Using mutagenic polymerase chain reaction primers to detect carriers of familial defective apolipoprotein B-100.
Familial defective apolipoprotein (apo) B-100 is a genetic trait characterized by an Arg----Gln substitution in position 3500 of the apo B sequence. This genetic defect is associated with greatly increased concentrations of plasma cholesterol and may thus increase the risk of developing premature atherosclerotic disease. We describe here the use of mutagenic polymerase chain reaction primers, w...
متن کاملUse of polymerase chain reaction to detect heterozygous familial hypercholesterolemia.
We used a modification of the polymerase chain reaction (PCR), involving two pairs of oligonucleotide primers, to detect a mutation in the low-density lipoprotein (LDL) receptor gene, commonly occurring among patients with familial hypercholesterolemia (FH) in Finland. This mutation, called FH-Helsinki, involves a large (about 9500 base pairs, bp) deletion in the LDL receptor gene extending fro...
متن کاملRapid diagnosis of familial defective apolipoprotein B-100.
A method is described for the rapid, economic and non-radioactive examination of DNA samples from hypercholesterolaemic patients for familial defective apolipoprotein B-100, using a modified polymerase chain reaction (PCR) protocol and restriction enzyme isoform genotyping. Because of the high prevalence of familial defective apolipoprotein B-100, which is estimated to be one in 500 in most scr...
متن کاملHigh prevalence of familial defective apolipoprotein B-100 in Switzerland.
Familial defective apolipoprotein B-100 (FDB) is caused by a single G-to-A substitution at nucleotide 10,708 leading to an arginine to glutamine change at amino acid 3,500 of the apolipoprotein B-100 and thus, a reduced binding of the apolipoprotein B to the low density lipoprotein (LDL) receptor. In the present study, the prevalence of FDB in Switzerland was estimated, on the one hand, from a ...
متن کاملFamilial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is dis...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 1991
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/37.10.1762