The Most Common Types of 3.7 Kilobase Deletion in the Iranian Population.

The 3.7 kb deletion is the most common known mutation in the α-globin gene cluster worldwide. The aim of this study is to investigate the most common types of 3.

Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions.

Background: Alpha-Thalassemia is the most common inherited disorder of hemoglobin (Hb) synthesis in the world. Unlike beta-thalassemia, in which non-deletional mutations predominate, most of recognized alpha-thalassemia mutations include deletion of one or both alpha-globin genes. The importance of alpha-thalassemia detection is mainly due to its shared blood parameters with beta-thalassemia and its impact on discrimination between unknown alpha-thalassemia and normal HbA2 beta-thalassemia during thalassemia prevention program.

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.

Detection of unknown deletions in beta-globin gene cluster using relative quantitative PCR methods.

beta-Thalassemia is mainly caused by mutations involving single base substitution and small deletions. However, a considerable number of carriers are suspected to have large deletions in beta-globin gene cluster. Common strategy for identifying deletions with definite breakpoints is based on Gap PCR.