Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15310%2F22%3A73605238" target="_blank" >RIV/61989592:15310/22:73605238 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/61988987:17110/21:A2202DFJ RIV/00216208:11110/22:10420918 RIV/00216208:11130/22:10420918 RIV/00098892:_____/22:10157145 a 2 dalších

Výsledek na webu

<a href="https://biomed.papers.upol.cz/getrevsrc.php?identification=public&mag=bio&raid=2681&type=fin&ver=2" target="_blank" >https://biomed.papers.upol.cz/getrevsrc.php?identification=public&mag=bio&raid=2681&type=fin&ver=2</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5507/bp.2020.060" target="_blank" >10.5507/bp.2020.060</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

Popis výsledku v původním jazyce

Aims. Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatening defects. The aim of the study was to reveal the possible influence of the parental origin of the X chromosome in these patients on a selected phenotype that is associated with Turner syndrome. Selected symptoms and parameters were: a bicuspid aortic valve, aortic coarctation, lymphoedema, pterygium colli, coeliac disease, thyroiditis, otitis media, diabetes mellitus 2, renal abnormalities, spontaneous puberty, and IVF. Methods. The X chromosome haplotype was determined for a group of 45,X patients verified by native FISH. A molecular diagnostic method based on the detection of different lengths of X chromosome-linked STR markers using the Argus X-12 QS kit was used to determine the X haplotype. Results. Our results, analysed by Fisher&apos;s exact (factorial) test, suggest independence between the maternal/paternal origin of the inherited X chromosome and the presence of the anomalies that were studied (P=1 to P=0.34). Conclusion. In the group of 45,X patients, who were precisely selected by means of the native FISH method, no correlation was demonstrated with the parental origin of the X chromosome and the observed symptom.

Název v anglickém jazyce

Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

Popis výsledku anglicky

Aims. Turner syndrome is the only chromosome monosomy that is postnatally compatible with life. The reported incidence of TS is 1 in 2500 liveborn girls. The phenotype of these girls is highly variable, with cardiac abnormalities being life-threatening defects. The aim of the study was to reveal the possible influence of the parental origin of the X chromosome in these patients on a selected phenotype that is associated with Turner syndrome. Selected symptoms and parameters were: a bicuspid aortic valve, aortic coarctation, lymphoedema, pterygium colli, coeliac disease, thyroiditis, otitis media, diabetes mellitus 2, renal abnormalities, spontaneous puberty, and IVF. Methods. The X chromosome haplotype was determined for a group of 45,X patients verified by native FISH. A molecular diagnostic method based on the detection of different lengths of X chromosome-linked STR markers using the Argus X-12 QS kit was used to determine the X haplotype. Results. Our results, analysed by Fisher&apos;s exact (factorial) test, suggest independence between the maternal/paternal origin of the inherited X chromosome and the presence of the anomalies that were studied (P=1 to P=0.34). Conclusion. In the group of 45,X patients, who were precisely selected by means of the native FISH method, no correlation was demonstrated with the parental origin of the X chromosome and the observed symptom.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

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OECD FORD obor

30209 - Paediatrics

Projekt

<a href="/cs/project/NV17-29111A" target="_blank" >NV17-29111A: Klíčová role karyotypu při stratifikaci rizika předčasné kardiovaskulární morbidity a mortality u žen s Turnerovým syndromem</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

BIOMEDICAL PAPERS-OLOMOUC

ISSN

1213-8118

e-ISSN

1804-7521

Svazek periodika

165

Číslo periodika v rámci svazku

10

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

5

Strana od-do

63-67

Kód UT WoS článku

000731340700001

EID výsledku v databázi Scopus

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