Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene.

ABSTRACT:

Background

Expansion of GAA trinucleotide repeats is the molecular basis of Friedreich's ataxia (FRDA). Precise detection of the GAA expansion repeat in frataxin gene has always been a challenge. Different molecular methods have been suggested for detection of GAA expansion, including; short-PCR, long-PCR, Triplet repeat primed-PCR (TP-PCR) and southern blotting. The aim of study was to evaluate two PCR-based methods, TP-PCR and long-PCR, and to explore the use of TP-PCR accompanying with long-PCR for accurate genotyping of FRDA patients.

Methods

Blood samples were collected from six Iranian patients suspected to FRDA, who referred to the Department of Medical Genetics at Tehran University of Medical Sciences during the year 2014. For one of these patients' four asymptomatic

SUBMITTER: Entezam M 

PROVIDER: S-EPMC5402781 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature