Comparisons between RT-PCR, real-time PCR, and in vitro globin chain synthesis by α/β ratio calculation for diagnosis of α- from β-thalassemia carriers.

Background: Thalassemia, which may be due to point mutations, translocations, and deletions involving the α or βglobin gene, is the most prevalent single gene disorder in Iran.This study aims to calculate the α/β ratio in normal cases, α- and β-thalassemia carriers by RT-PCR, real-time PCR, and in vitro globin chain synthesis (GCS) in order to establish the most accurate technique to distinguish between α- and β-thalassemia carriers in suspicious cases.

Methods: The α/β ratios were calculated in all samples by RT-PCR, real-time RT-PCR, and in vitro GCS.

Validation and comparison of two quantitative real-time PCR assays for direct detection of DMD/BMD carriers.

Objectives: To develop a robust and reliable assay for direct identification of female carriers of deletions in the dystrophin gene.

Design And Methods: We compared two quantitative real-time PCR approaches for the detection of the deletions of exons 4, 17, 47, and 50 in DMD/BMD carriers. One hundred and ten individuals from 26 unrelated families, including 8 large pedigrees characterized by having at least two DMD affected males, were studied.