dc.contributor.author |
Ács, Orsolya Dóra |
|
dc.contributor.author |
Péterfia, Bálint |
|
dc.contributor.author |
Hollósi, Péter |
|
dc.contributor.author |
Haltrich, Irén |
|
dc.contributor.author |
Sallai, Ágnes |
|
dc.contributor.author |
Luczay, Andrea |
|
dc.contributor.author |
Buiting K |
|
dc.contributor.author |
Horsthemke B |
|
dc.contributor.author |
Török, Dóra |
|
dc.contributor.author |
Szabó, András |
|
dc.contributor.author |
Fekete, György |
|
dc.date.accessioned |
2018-02-16T08:59:12Z |
|
dc.date.available |
2018-02-16T08:59:12Z |
|
dc.date.issued |
2018 |
|
dc.identifier.citation |
pagination=64-69;
journalVolume=159;
journalIssueNumber=2;
journalTitle=ORVOSI HETILAP; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/4630 |
|
dc.identifier.uri |
doi:10.1556/650.2018.30918 |
|
dc.description.abstract |
INTRODUCTION: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. AIM: Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader-Willi syndrome. METHOD: We studied 17 clinically suspected Prader-Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. RESULTS: Prader-Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader-Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. CONCLUSION: Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64-69. |
|
dc.relation.ispartof |
urn:issn:0030-6002 |
|
dc.title |
Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására |
|
dc.type |
Journal Article |
|
dc.date.updated |
2018-01-12T09:31:18Z |
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dc.language.rfc3066 |
hu |
|
dc.identifier.mtmt |
3315170 |
|
dc.identifier.pubmed |
29307221 |
|
dc.contributor.department |
SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika |
|
dc.contributor.department |
SE/AOK/I/I. Sz. Patológiai és Kísérleti Rákkutató Intézet |
|
dc.contributor.institution |
Semmelweis Egyetem |
|
dc.mtmt.swordnote |
Hiányzó Besorolás: 'English Abstract\n\nJournal Article',24 |
|