Diagnosis of thalassemia using cDNA amplification of circulating erythroid cell mRNA with the polymerase chain reaction

S. Z. Huang, G. P. Rodgers, F. Y. Zeng, Y. T. Zeng, A. N. Schechter

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

We have developed a technique to diagnose the α- and β-thalassemia (thal) syndromes using the polymerase chain reaction to amplify cDNA copies of circulating erythroid cell messenger RNA (mRNA) so as to quantitate the relative amounts of α-, β-, and γ-globulin mRNA contained therein. Quantitation, performed by scintillation counting of 32P-dCTP incorporated into specific globin cDNA bands, showed ratios of α/β-globin mRNA greater than 10-fold and greater than fivefold increased in patients with β0- and β+-thal, respectively, as well as a relative increase in γ-globin mRNA levels. Conversely, patients with α-thalassemia showed a decreased ratio of α/β-globin mRNA proportional to the number of α-globin genes deleted. This methodology of ascertaining ratios of globin mRNA species provides a new, simplified approach toward the diagnosis of thalassemia syndromes, and may be of value in other studies of globin gene expression at the transcription level.

Original languageEnglish
Pages (from-to)2433-2437
Number of pages5
JournalBlood
Volume78
Issue number9
DOIs
StatePublished - 1991
Externally publishedYes

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