Advanced search ?

Object

Access Limited

This publication is protected and can be accessed only from certain IPs.
This publication is protected and can be accessed only from certain IPs.

Title: Mutation analysis in the coding and regulatory sequence of the TBX1 in individuals with a 22q11.2 phenotype

Author:

Jagła, Mateusz

Date:

2011

Type:

Praca doktorska

Abstract:

Background. 22q11.2 deletion syndrome is one of the most common genetic causes of congenital heart defects. The syndrome is usually a consequence of a heterozygotic deletion in the long arm of the 22 chromosome, but alsomutations in the TBX1 gene were described. Aims. The main goal of the study was mutation analysis of the coding and regulatory sequences of the TBX1 gene in the cohort of non-deleted patients with features compatible with 22q11.2 deletion syndrome. Materials and methods. 170 patients with conotruncal hear defect from the Pediatric Cardiology Department of the Jagiellonian University were enrolled in the study. The major inclusion criterion was the presence of a conotruncal heart defect. Microdeletion 22q11.2 was screened by MLPA and confirmed by FISH. In the group of non-deleted patients, mutation analysis of the TBX1 gene was performed by DHPLC and direct sequencing. Results. A typical 22q11.2 microdeletion was detected in 14/170 (8,2%) patients In the remaining 156/170 non-deleted individuals no mutations were detected in the coding and regulatory sequences of the TBX1 gene. There were no associations between detected polymorphisms and phenotype. Conclusion. Results of mutation analysis of the coding and regulatory sequences of the TBX1 gene in the cohort of non-deleted patients with features compatible with 22q11.2 deletion syndrome were negative.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

choroby układu krążenia

Degree grantor:

Wydział Lekarski

Promoter:

Pietrzyk, Jacek J.

Date issued:

2011

Identifier:

oai:dl.cm-uj.krakow.pl:3433

Call number:

ZB-115821

Language:

pol

Access rights:

tylko w bibliotece

Subject and keywords:

TBX1 congenital heart defect 22q11.2 deletion syndrome

Object collections:

Last modified:

Mar 17, 2023

In our library since:

Mar 6, 2013

Number of object content hits:

11

Number of object content views in PDF format

0

All available object's versions:

http://dl.cm-uj.krakow.pl:8080/publication/3433

Show description in RDF format:

RDF

Show description in OAI-PMH format:

OAI-PMH

Edition name Date
ZB-115821 Mar 17, 2023

Objects

Similar

Mutation analysis in the coding and regulatory sequence of the TBX1 in individuals with a 22q11.2 phenotype

Jagła, Mateusz

2011
Praca doktorska

Long follow-up of children with congenital heart defect from Kraków voivodship born in 1987-89

Pitak, Maciej

2005
Praca doktorska

Interventional procedures for children in a modern hybrid room

Czerżyńska, Magdalena

2021
Praca doktorska

Role of ultrasound in detection of functional and structural cardiovascular anomalies and congenital heart defects at the time of late first trimester of pregnancy

Wiecheć, Marcin

2015
Praca doktorska

Mobilization of stem cells into the peripheral blood in children with congenital heart disease

Borówka, Magdalena

2017
Praca doktorska

Influence of intraoperative nitric oxide inhalation on systemic inflammatory response during treatment of congenital heart disease in children

Stycuła, Wojciech

2018
Praca doktorska

Dla rodziców : [leczenie operacyjne wrodzonych wad serca u dzieci]

serwis informacyjny

Dla Rodziców - Klinika Kardiochirurgii Dziecięcej Katedry Kardio-Torakochirurgii Uniwersytetu Medycznego w Poznaniu

serwis informacyjny
More
×

Citation

Citation style:

Contact details

Address

Medical Library
Medyczna 7
30-688 Krakow

Phone

12 658 72 56
517 385 669

E-Mail

Collecting and Elaboration Department
cyfrowabm@cm-uj.krakow.pl

Visit us!

This page uses 'cookies'. More information