The phenotype of polycythemia due to Croatian homozygous VHL (571C}G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C}T:R200W)
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F13%3A33144623" target="_blank" >RIV/61989592:15110/13:33144623 - isvavai.cz</a>
Výsledek na webu
<a href="http://www.haematologica.org/content/98/4/560.long" target="_blank" >http://www.haematologica.org/content/98/4/560.long</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3324/haematol.2012.070508" target="_blank" >10.3324/haematol.2012.070508</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
The phenotype of polycythemia due to Croatian homozygous VHL (571C}G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C}T:R200W)
Popis výsledku v původním jazyce
Mutations of VHL (a negative regulator of hypoxia-inducible factors) have position-dependent distinct cancer phenotypes. Only two known inherited homozygous VHL mutations exist and they cause polycythemia: Chuvash R200W and Croatian H191D. We report a second polycythemic Croatian H191D homozygote distantly related to the first propositus. Three generations of both families were genotyped for analysis of shared ancestry. Biochemical and molecular tests were performed to better define their phenotypes, with an emphasis on a comparison with Chuvash polycythemia. The VHL H191D mutation did not segregate in the family defined by the known common ancestors of the two subjects, suggesting a high prevalence in Croatians, but haplotype analysis indicated an undocumented common ancestor ?six generations ago as the founder of this mutation. We show that erythropoietin levels in homozygous VHL H191D individuals are higher than in VHL R200W patients of similar ages, and their native erythroid proge
Název v anglickém jazyce
The phenotype of polycythemia due to Croatian homozygous VHL (571C}G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C}T:R200W)
Popis výsledku anglicky
Mutations of VHL (a negative regulator of hypoxia-inducible factors) have position-dependent distinct cancer phenotypes. Only two known inherited homozygous VHL mutations exist and they cause polycythemia: Chuvash R200W and Croatian H191D. We report a second polycythemic Croatian H191D homozygote distantly related to the first propositus. Three generations of both families were genotyped for analysis of shared ancestry. Biochemical and molecular tests were performed to better define their phenotypes, with an emphasis on a comparison with Chuvash polycythemia. The VHL H191D mutation did not segregate in the family defined by the known common ancestors of the two subjects, suggesting a high prevalence in Croatians, but haplotype analysis indicated an undocumented common ancestor ?six generations ago as the founder of this mutation. We show that erythropoietin levels in homozygous VHL H191D individuals are higher than in VHL R200W patients of similar ages, and their native erythroid proge
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
EB - Genetika a molekulární biologie
OECD FORD obor
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Návaznosti výsledku
Projekt
Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Ostatní
Rok uplatnění
2013
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Haematologica: the hematology journal
ISSN
0390-6078
e-ISSN
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Svazek periodika
98
Číslo periodika v rámci svazku
4
Stát vydavatele periodika
IT - Italská republika
Počet stran výsledku
8
Strana od-do
560-567
Kód UT WoS článku
000319897700022
EID výsledku v databázi Scopus
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