Molecular characterization of familial hypercholesterolemia in German and Greek patients.

We used the denaturing gradient gel electrophoresis (DGGE) method to define mutations in the promoter region, the 18 exons, and their flanking intronic sequences of the low-density lipoprotein (LDL) receptor gene LDLR, causing familial hypercholesterolemia (FH) phenotype in 100 German and in 100 Greek hypercholesterolemic individuals. In addition, we tested all patients for the presence of mutations in codons 3456-3553 of the gene encoding apolipoprotein B-100 (APOB). Twenty-six aberrant DGGE patterns were identified and subsequently directly sequenced. In LDLR, two novel missense mutations (c.1957G>T/p.V653F, c.647 G>A/p.C216Y) and one novel homozygous base substitution c.1-156 C>T in the repeat 2 of the promoter region were identified among German FH patients; one novel splice site c.1060+10C>G was identified among Greek FH patients. One of the German FH patients was a carrier for the mutations c.1171G>A/p.A391T and p.V653F, and two of the Greek FH patients were compound heterozygotes for the mutations c.1150C>T/p.Q384X and c.1158C>G/p.D386E. Two German FH patients carried the mutation p.R3500Q within APOB. Comparing the mutations within the LDLR gene of the two European FH populations, the German population seems to be more heterogeneous than the Greek cohort. Further studies in progress are trying to elucidate the responsiveness to drug therapy in association with LDLR genotype and the nutritional habits of the two FH populations.

Dedoussis GV ，Genschel J ，Bochow B ，Pitsavos C ，Skoumas J ，Prassa M ，Lkhagvasuren S ，Toutouzas P ，Vogt A ，Kassner U ，Thomas HP ，Schmidt H ... -  《-》

Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).

Azian M ，Hapizah MN ，Khalid BA ，Khalid Y ，Rosli A ，Jamal R ... -  《Malaysian Journal of Pathology》

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK 《danish medical bulletin》

FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.

Dedoussis GV ，Skoumas J ，Pitsavos C ，Choumerianou DM ，Genschel J ，Schmidt H ，Stefanadis C ... -  《EUROPEAN JOURNAL OF CLINICAL INVESTIGATION》

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.

Real JT ，Chaves FJ ，Ejarque I ，García-García AB ，Valldecabres C ，Ascaso JF ，Armengod ME ，Carmena R ... -  《EUROPEAN JOURNAL OF HUMAN GENETICS》