OBJECTIVE: To develop polymerase chain reaction (PCR) techniques for diagnosis of three commonest deletional alpha-thalassemia determinants in China: - -(SA), - alpha(3.7) and - alpha(4.2). METHOD: Three groups of primers were designed and used to amplify the respective type of the deletional alpha-thalassemia under an optimized PCR condition, followed by agarose gel electrophoresis and EB-stainning. RESULT: Homozygous and heterozygotes, as well as double heterozygous of the 3 commonest deletions were successfully detected and diagnosed by the developed techniques. The results were identical to that from Southern Blot analysis. Forty two cases of alpha-thalassemia were diagnosed by these techniques. CONCLUSION: The 3 PCR-based techniques established by our lab were accurate, simple, and well reproducible for gene diagnosis of the deletional alpha-thalassemia determinants.
[Study on new techniques for genetic diagnosis of deletional alpha-thalassemia] Publishing Authors By Initials
