A Single-Tube Multiplex Gap-Polymerase Chain Reaction for the Detection of Eight β-Globin Gene Cluster Deletions Common in Southeast Asia

摘要: Up to now, more than 200 different β-thalassemia (β-thal) mutations have been characterized. The majority are point causing expression defects. Only approximately 10.0% of the defects caused by large deletions involving β-globin gene cluster β(0)-thal, (δβ)(0)-thal, (G)γ((A)γδβ)(0)-thal and other conditions with or without persistence fetal hemoglobin (Hb). For prevention severe forms β-thal intermedia major, it is important identify carriers as well deletions. β-Thalassemia related disorders most commonly present among populations from all Mediterranean countries Southeast Asia, India, Africa, Central America Middle East. Twelve relatively frequently occurring deletion types described cluster. These include 105 bp β(0)-thal deletion, 619 3.5 kb Asian (SEA) Filipino Hb Lepore, Thai Siriraj J (G)γ((A)γδβ)(0)-thal, Chinese Indian deletion-inversion (hereditary hemoglobin) HPFH-6 HPFH-7 To improve rapid detection eight common in countries, a simple molecular technique based on single-tube multiplex gap-polymerase chain reaction (PCR) has developed this study. This provides fast, cost effective diagnostic test for that can be applied every laboratory having standard PCR equipment.