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[Study on new techniques for genetic diagnosis of deletional alpha-thalassemia]
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.