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[Diagnosis of several common alpha-thalassemia genotypes by multiplex fluorescence polymerase chain reaction].

作者信息

Wen Shu, Wu Ling-qian, Li Qi

机构信息

National Laboratory of Medical Genetics, Central South University, Changsha, 410078, China.

出版信息

Hunan Yi Ke Da Xue Xue Bao. 2003 Apr;28(2):123-6.

Abstract

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.

摘要

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