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[Diagnosis of several common alpha-thalassemia genotypes by multiplex fluorescence polymerase chain reaction]
1National Laboratory of Medical Genetics, Central South University, Changsha, 410078, China.
Objective:
To develop an approach to a quick and accurate genetic diagnosis.
Methods:
Byusing fluorescence primer, the fragments of alpha 1 and alpha 2-globin gene and internal control: beta-actin were amplified and then the PCR products were analyzed with Perkin Elmer ABI PRISMTM 377DNA Sequencer. Linkage analysis was also performed with (CA)n at the upstream of alpha 2-globin gene. The two methods were compared.
Result:
The fluorescence polymerase chain reaction and the linkage analysis gave the same result, and it was easy to distinguish different genotypes.
Conclusion:
The multipilx fluorescence polymerase chain reaction is simple, sensitive and feasible for rapid diagnosis of alpha thalassemia, and may be utilized for the genetic diagnosis of the pre-transplantation and the diagnosis by fetal nucleated erythrocytes in maternal blood.
