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.

Základní údaje

Originální název

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

Název česky

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

Autoři

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

Vydání

Human Mutation, 2002, 1059-7794

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 6.894

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/02:00039979

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

familial hypercholesterolemia; FH; LDL receptor; LDLR; Czechoslovakian

Štítky

Czechoslovakian, familial hypercholesterolemia, FH, LDL receptor, LDLR

Změněno: 14. 7. 2009 09:25, prof. MUDr. Tomáš Freiberger, Ph.D.

Anotace

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.

Česky

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

Návaznosti

NE5554, projekt VaV

Název: 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 a Libor KOZÁK. Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients. Human Mutation. 2002, roč. 19, č. 1, 5 s. 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 a Libor KOZÁK. Spectrum of low density lipoprotein receptor mutations in Czech hyperchlosterolemic patients. \textit{Human Mutation}. 2002, roč.~19, č.~1, 5 s. ISSN~1059-7794.

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