#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Genotyping of MTHFR 677 C>T and 1298 A>C polymorphisms by High Resolution Melting of Small Amplicons


Autoři: P. Norambuena 1;  J. Copeland 2;  P. Krenkova 1;  A. Nestorovic 3;  A. Stambergova 1;  M. Macek Jr. 1
Působiště autorů: Institute of Biology and Medical Genetics, Charles University Prague – nd School of Medicine and University Hospital Motol, Prague, Czech Republic 1;  University of Virginia, School of Medicine, Charlottesville, VA, USA 2;  Laboratory for Molecular Biology, IMGGE, Serbia 3
Vyšlo v časopise: Čas. Lék. čes. 2008; 147: 177
Kategorie: Sjezdy

Defects in the enzyme Methylenetetrahydrofolate Reductase (MTHFR) has been associated to thrombosis and neural tube defects, among other diseases, being of importance to evaluate genetic susceptibility to these disorders. High Resolution Melting (HRM) for gene scanning is a very simple, rapid and an inexpensive method. HRM has been adapted for SNPs genotyping after a PCR amplification of small amplicons. We introduced this closed-tube genotyping method in our laboratory for the genotyping of the most common mutations in the MTHFR gene: 677 C>T (rs1801133) and 1298 A>C (rs1801131). We analyzed 107 blinded samples for rs1801133 and 104 blinded samples for rs1801131. Assignments were made in 96.3% of the cases for rs1801133 and in 98.1% of the cases for rs1801131 being all these calls correct. In the case of the 4 (3.7%) and 2 (1.9%) unknown samples for rs1801133 and rs1801131 respectively, by repeating the analysis we reached a 100% of assignments with correct calls. All the samples used in this study were previously genotyped by RHA Kit Thrombo and RFLP. High Resolution Melting of Small Amplicons is not only a simple and inexpensive method, it is also accurate for genotyping and it can be used for molecular diagnostic purposes.

This work was supported by VZFNM 00064203(6112) and Eurogentest.


Štítky
Adiktológia Alergológia a imunológia Angiológia Audiológia a foniatria Biochémia Dermatológia Detská gastroenterológia Detská chirurgia Detská kardiológia Detská neurológia Detská otorinolaryngológia Detská psychiatria Detská reumatológia Diabetológia Farmácia Chirurgia cievna Algeziológia Dentální hygienistka
Článek CytoChip

Článok vyšiel v časopise

Časopis lékařů českých

Najčítanejšie tento týždeň
Najčítanejšie v tomto čísle
Kurzy

Zvýšte si kvalifikáciu online z pohodlia domova

Získaná hemofilie - Povědomí o nemoci a její diagnostika
nový kurz

Eozinofilní granulomatóza s polyangiitidou
Autori: doc. MUDr. Martina Doubková, Ph.D.

Všetky kurzy
Prihlásenie
Zabudnuté heslo

Zadajte e-mailovú adresu, s ktorou ste vytvárali účet. Budú Vám na ňu zasielané informácie k nastaveniu nového hesla.

Prihlásenie

Nemáte účet?  Registrujte sa

#ADS_BOTTOM_SCRIPTS#