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J Intern Med. 1997 Mar;241(3):185-94.

Molecular genetics of familial hypercholesterolaemia in Norway.

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1
Department of Medical Genetics, Ullevål University Hospital, Norway.

Abstract

OBJECTIVES:

To characterize mutations in the low density lipoprotein (LDL) receptor gene causing familial hypercholesterolaemia (FH) amongst Norwegian patients.

DESIGN:

Molecular genetic analyses of the LDL receptor gene have been performed in patients with a clinical diagnosis of FH.

SUBJECTS:

A total of 742 probands have been studied. Of these, 476 had a diagnosis of definite FH. The rest had a diagnosis of possible FH.

RESULTS:

Twenty-three different mutations in the LDL receptor gene as well as the apolipoprotein B-3500 mutation have been found. Six of the mutations in the LDL receptor gene are novel mutations. A molecular genetic diagnosis was achieved in 295 of the probands with definite FH (62%) and in 317 probands total. Of the 317 probands, 3% carried the apolipoprotein B-3500 mutation. When family members were included, a total of 624 persons carried a mutation in the LDL receptor gene and 20 carried the apolipoprotein B-3500 mutation.

CONCLUSIONS:

Approximately 5% of Norwegian FH patients have been provided with a molecular genetic diagnosis. Our data suggest that molecular diagnosis of FH in Norway is feasible and should be implemented in clinical medicine.

PMID:
9104431
[Indexed for MEDLINE]
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