A SINGLE-TUBE MULTIPLEX GAP-POLYMERASE CHAIN REACTION FOR THE DETECTION OF EIGHT beta-GLOBIN GENE CLUSTER DELETIONS COMMON IN SOUTHEAST ASIA

作者：Tritipsombut Jaruwan; Phylipsen Marion; Viprakasit Vip; Chalaow Nipon; Sanchaisuriya Kanokwan; Giordano Piero C^*; Fucharoen Supan; Harteveld Cornelis L

来源：Hemoglobin, 2012, 36(6): 571-580.

DOI：10.3109/03630269.2012.747441

• Single-tube multiplex gap-polymerase chain reaction (PCR)
• beta-Globin cluster deletions
• Southeast Asia
• Screening for beta-thalassemia (beta-thal)

Up to now, more than 200 different beta-thalassemia (beta-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 beta-globin gene cluster causing beta(0)-thal, (delta beta)(0)-thal, (G)gamma((A)gamma delta beta)(0)-thal and other conditions with or without persistence of fetal hemoglobin (Hb). For the prevention of severe forms of beta-thal intermedia and beta-thal major, it is important to identify carriers of point mutations as well as carriers of deletions. %26lt;br%26gt;beta-Thalassemia and related disorders are most commonly present among populations from all Mediterranean countries as well as Southeast Asia, India, Africa, Central America and the Middle East. Twelve relatively frequently occurring deletion types have been described involving the beta-globin gene cluster. These include the 105 bp beta(0)-thal deletion, the 619 bp deletion, the 3.5 kb deletion, the Southeast Asian (SEA) deletion, the Filipino deletion, Hb Lepore, the Thai (delta beta)(0)-thal, the Siriraj J (G)gamma((A)gamma delta beta)(0)-thal, the Chinese (G)gamma((A)gamma delta beta)(0)-thal, the Asian Indian deletion-inversion (G)gamma((A)gamma delta beta)(0)-thal as well as the (hereditary persistence of fetal hemoglobin) HPFH-6 and HPFH-7 deletions. %26lt;br%26gt;To improve the rapid detection of the eight common beta-globin cluster deletions in Southeast Asian countries, a simple molecular technique based on a single-tube multiplex gap-polymerase chain reaction (PCR) has been developed in this study. This technique provides a fast, simple and cost effective diagnostic test for deletion types of beta-thal that can be applied in every molecular diagnostic laboratory having standard PCR equipment.

• 出版日期2012