An alpha-globin gene initiation codon mutation in a black family with HbH disease.
The molecular basis of hemoglobin H disease in a Black family of Canadian origin was investigated. Affected individuals had a combination of deletion and nondeletion alpha-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 alpha-globin gene of a rightward (-alpha 3.7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis.
D044383:Black People; D002872:Chromosome Deletion; D003062:Codon / Q000235:genetics*; D005796:Genes; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H; D006455:Hemoglobins, Abnormal; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics*
D003062:Codon; D006455:Hemoglobins, Abnormal; D012333:RNA, Messenger; D005914:Globins; D006447:Hemoglobin H