Spectrum of low density lipoprotein receptor mutations in Czech
hyperchlosterolemic patients.

J 2002

Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients.

KUHROVÁ, Viera, Hana FRANCOVÁ, Petra ZAPLETALOVÁ, Tomáš FREIBERGER, Lenka FAJKUSOVÁ et. al.

Basic information

Original name

Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients.

Name in Czech

Spektrum mutací v genu pro LDL receptor u českých pacientů s hypercholesterolémií.

Authors

KUHROVÁ, Viera (203 Czech Republic, guarantor), Hana FRANCOVÁ (203 Czech Republic), Petra ZAPLETALOVÁ (203 Czech Republic), Tomáš FREIBERGER (203 Czech Republic), Lenka FAJKUSOVÁ (203 Czech Republic), Eva HRABINCOVÁ (203 Czech Republic), Romana SLOVÁČKOVÁ (203 Czech Republic) and Libor KOZÁK (203 Czech Republic)

Edition

Human Mutation, 2002, 1059-7794

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 6.894

RIV identification code

RIV/00216224:14110/02:00039979

Organization unit

Faculty of Medicine

Keywords in English

familial hypercholesterolemia; FH; LDL receptor; LDLR; Czechoslovakian

Abstract

ORIG CZ

V originále

The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination 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 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 polymorphisms.

In Czech

V práci jsou charakterizovány mutace v genu pro LDL receptor v souboru 130 pacientů s familiární hypercholesterolémií z 68 českých nepříbuzných rodin.

Links

NE5554, research and development project

Name: Molekulárně-genetická analýza hyperlipoproteinémií: Vliv mutací pro LDL receptor, apoB-100 a poE na fenotyp familiárních hypercholesterolémií

Citovat

KUHROVÁ, Viera, Hana FRANCOVÁ, Petra ZAPLETALOVÁ, Tomáš FREIBERGER, Lenka FAJKUSOVÁ, Eva HRABINCOVÁ, Romana SLOVÁČKOVÁ and Libor KOZÁK. Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients. Human Mutation. 2002, vol. 19, No 1, 5 pp. ISSN 1059-7794.

@article{486995,
   author = {Kuhrová, Viera and Francová, Hana and Zapletalová, Petra and Freiberger, Tomáš and Fajkusová, Lenka and Hrabincová, Eva and Slováčková, Romana and Kozák, Libor},
   article_number = {1},
   keywords = {familial hypercholesterolemia; FH; LDL receptor; LDLR; Czechoslovakian},
   language = {eng},
   issn = {1059-7794},
   journal = {Human Mutation},
   title = {Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients.},
   volume = {19},
   year = {2002}
}

TY  - JOUR
ID  - 486995
AU  - Kuhrová, Viera - Francová, Hana - Zapletalová, Petra - Freiberger, Tomáš - Fajkusová, Lenka - Hrabincová, Eva - Slováčková, Romana - Kozák, Libor
PY  - 2002
TI  - Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients.
JF  - Human Mutation
VL  - 19
IS  - 1
SN  - 10597794
KW  - familial hypercholesterolemia
KW  - FH
KW  - LDL receptor
KW  - LDLR
KW  - Czechoslovakian
N2  - The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination 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 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 polymorphisms.
ER  -

KUHROVÁ, Viera, Hana FRANCOVÁ, Petra ZAPLETALOVÁ, Tomáš FREIBERGER, Lenka FAJKUSOVÁ, Eva HRABINCOVÁ, Romana SLOVÁČKOVÁ and Libor KOZÁK. Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients. \textit{Human Mutation}. 2002, vol.~19, No~1, 5 pp. ISSN~1059-7794.

Detailed Information on Publication Record