Abstract
AbstractThe molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion a-thalassemia mutations on different chromosomes. Cloning and sequencing of the DNA of one member with the nondeletion form revealed a new thalassemia mutation, an A → G substitution, in the initiation codon of the remaining a-globin gene of a rightward ( — α3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.© 1987 by Grune & Stratton, Inc. 0006-4971/87/7003-0020$3.00/0
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