Article
Detection of beta-thalassemia carrier by direct analysis of beta-globin gene lesions.
Biochemical and biophysical research communications - 31 Mar 1993
Pao C C, Lin C Y, Tang G C, Sun C F, Hsieh T T
Abstract excerpt
DNA was prepared from peripheral blood mononuclear cells of 114 Chinese with low erythrocyte mean corpuscular volume and analyzed by allele-specific DNA amplification for the presence of mutant alleles in the beta-globin gene that account for about 90% of beta-thalassemia in Chinese. A total of 9 mutations of the five most frequent mutant alleles were detected in 8 individuals. All mutant sequences were confirmed...
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