Medizinische Universität Graz - Research portal
Selected Publication:
Nauck, MS; Köster, W; Dörfer, K; Eckes, J; Scharnagl, H; Gierens, H; Nissen, H; Nauck, MA; Wieland, H; März, W.
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Hum Mutat. 2001; 18(2): 165-166.
Doi: 10.1002/humu.1171
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- Co-authors Med Uni Graz
- März Winfried
- Scharnagl Hubert
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- Abstract:
- In order to identify mutations in the low density lipoprotein receptor (LDLR) gene in primary hypercholesterolemia, we screened 100 unrelated German individuals with elevated plasma LDL-C (LDL-C > 4,7 mmol/l) for mutations in the 18 exons and their flanking intronic sequences including the promoter region of the LDL-R gene using a combination of polymerase chain reaction (PCR), denaturing gradient gel electrophoresis (DGGE) and direct sequencing. In addition we tested all patients for the presence of mutations in codons 3456 - 3553 of the gene encoding apolipoprotein B-100. In 56 individuals we detected 37 different mutations affecting the LDL-R gene, 16 of which, designated C122R, C127Y, C163W, F179L, R236W, E296X, R553C, V618D, T721I, V785D, G1358+2A, 257delTCTGGAGGT, 657delC, 676insACGGTATGGACTGCAdelGACG, C1205delTCT, 2420delTCCTTCT, have not yet been reported. One proband was a compound heterozygote showing two separate sequence variations (E207X and T705I). Seven patients were heterozygous for the mutation R3500Q within the apoB-100 gene. These results demonstrate that there is a broad spectrum of mutations in the LDL-R gene and that the R3500Q mutation is a frequent cause of hypercholesterolemia in the German population.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Aged -
- Apolipoproteins B - genetics
- Child - genetics
- Codon - genetics
- Cohort Studies - genetics
- CpG Islands - genetics
- DNA Mutational Analysis - genetics
- Exons - genetics
- Female - genetics
- Gene Frequency - genetics
- Genetic Screening - genetics
- Germany - genetics
- Humans - genetics
- Hypercholesterolemia, Familial - blood
- Introns - genetics
- Male - genetics
- Middle Aged - genetics
- Mutation - genetics
- Polymorphism, Restriction Fragment Length - genetics
- Promoter Regions (Genetics) - genetics
- Receptors, LDL - genetics
- Research Support, Non-U.S. Gov't - genetics