A single-tube multiplex gap-polymerase chain reaction for the detection of eight β-globin gene cluster deletions common in Southeast Asia

• Main Authors: Jaruwan Tritipsombut, Marion Phylipsen, Vip Viprakasit, Nipon Chalaow, Kanokwan Sanchaisuriya, Piero C. Giordano, Supan Fucharoen, Cornelis L. Harteveld
• Other Authors: Khon Kaen University
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/13550
• Institution: Mahidol University

Up to now, more than 200 different β-thalassemia (β-thal) mutations have been characterized. The majority are point mutations causing expression defects. Only approximately 10.0 of the defects are caused by large deletions involving the β-globin gene cluster causing β 0 - thal, (δβ) 0 -thal, G γ( A...