title: A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation.
abstract: Digestion of DNA from a patient with homozygous beta zero thalassemia from Calabria, Italy with the restriction endonuclease Mst II produced a pattern similar to the one obtained with sickle cell trait DNA in that the Mst II site at the beta 6 position on one chromosome was abolished. We cloned the DNA from this beta-thalassemia chromosome and performed sequence analysis. The deletion of a single nucleotide (A) at the GAG codon of the beta 6 position results in a frame shift and early beta-globin chain termination. This mutation occurs on a chromosome with a haplotype similar to two other Mediterranean beta-thalassemia lesions. The Mst II enzyme is useful for prenatal diagnosis of beta thalassemia in this population.
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D005796:Genes; D005914:Globins / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes; C034726:endodeoxyribonuclease MstII; D015252:Deoxyribonucleases, Type II Site-Specific