• J Liu, J Zhou, L Wang, and Y Zhou.
• Beijing Red Cross Chaoyang Hospital, Beijing 100020, China.
• Zhonghua Xue Ye Xue Za Zhi. 2001 Apr 1; 22 (4): 193-6.

ObjectiveTo 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).MethodThree 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.ResultHomozygous 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.ConclusionThe 3 PCR-based techniques established by our lab were accurate, simple, and well reproducible for gene diagnosis of the deletional alpha-thalassemia determinants.

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