ApoB mutations
| Material: | 1 – 2 ml EDTA-blood and declaration of consent |
| Methods: | Amplifikationsverfahren → PCR und Sequenzierung |
| Indication | Differential diagnosis in hypercholesterolemia patients and their blood relatives |
| Please note | Apart from the familial hypercholesterolemia (FH), caused by LDL receptor defects, further familial forms of hypercholesterolemia are known, which are caused by changes to the ApoB gene (Prevalence approximately 1:800 – 1000). The protein apolipoprotein B works as mediator for the uptake of LDL into the cells. This dysfunction of the LDL metabolism is associated with a moderate hypercholesterolemia. The prevalence of the two most common mutations in the ApoB gene (ApoB-R3500Q and ApoB-R3531C) are 1:450 and 1:3000 in the normal population and their frequency is approximately the same as for heterozygote LDL receptor defects. Even heterozygote constellations can lead to a decreased affinity of ApoB towards the LDL receptor and an increase of the total cholesterol by 70 – 90 mg/dl (ApoB-R3500Q) or 45 – 65 mg/dl (ApoB-R3531C) compared to normal collectives. |
| External services | ja MVZ Dr. Eberhard & Partner Dortmund |
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