Publication details

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

Authors

KUHROVÁ Viera FRANCOVÁ Hana ZAPLETALOVÁ Petra FREIBERGER Tomáš FAJKUSOVÁ Lenka HRABINCOVÁ Eva SLOVÁČKOVÁ Romana KOZÁK Libor

Year of publication 2001
Type Article in Periodical
Magazine / Source Human Mutation
MU Faculty or unit

Faculty of Science

Citation
Web http://interscience.wiley.com/jpages/1059-7794/mutbr_2001.html
Field Genetics and molecular biology
Keywords familial hypercholesterolemia; FH; LDL receptor; LDLR; Czechoslovakian
Description The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combinations of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding sequence of the low density lipoprotein receptor (LDLR) gene in 130 patients from 68 unrelated families resulted in the identification of 37 sequence variations. Thirty of them are most likely disease causing mutations. Nineteen mutations were novel (two nonsense, five missense, six nucleotide(s) insertions and six nucleotide(s)deletions). Their pathological effect can be predicted on the basis of their position with respect activity to previously reported mutations with an estimated reduction of the receptor activity and/or premature termination of translation. These results expand our knowledge of mutations responsible for FH. Seven nucleotide variations were characterized as silent polymorphism.

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