Familial Hypercholesterolaemia (FH) is a public health problem throughout the world, there are 10 million people with FH worldwide, the majority of these will suffer from a coronary event before they are 65 years old. FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene, the apolipoprotein B-100 (Apo B) gene or the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and has an autosomal dominant pattern of inheritance. A single altered copy (heterozygous) of the gene is sufficient to result in clinical symptoms of the disease, i.e. increased serum cholesterol concentration, tendon xanthomas and premature coronary heart disease.
UK guidelines (link below) recommend that DNA screening is used to identify patients with FH, cascade screening should be applied to identify further family members with FH. individuals with FH can then be treated appropriately to lower their risk to premature coronary disease.
http://www.nice.org.uk/nicemedia/pdf/CG071NICEGuidelineWord.doc
| Elucigene™ FH20
DNA analysis and mutation detection is particularly useful in the diagnosis of FH but can be tedious and expensive due to the extremely heterogeneous nature of the LDLR gene. Elucigene FH20 is developed as three optimised ARMS™ primer multiplexes to provide a simple primary screen for rapid identification of the 20 most commonly observed mutations in a UK based population. In a DNA screening pilot study a 52% mutation detection rate was acheived in FH heterozygous patients using only the A and B primer mixes of FH20.
How to Order • Cat. No. FH020B2
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