A #{246}-Globin Gene Derived From Patients With Homozygous #{246}#{176} Thalassemia Functions Normally on Transient Expression in Heterologous Cells
نویسندگان
چکیده
Three Japanese individuals with homozygous ‘-thalassemia from different families were the subjects of molecular genetic analysis. They were homozygous for seven polymorphic sites in the fl-globin gene cluster. Nucleotide sequence analysis of the 6-globin gene cloned from each patient revealed a single nucleotide substitution (T-C) 77 base pairs 5’ to the cap site, just upstream of the CCAAC box of the 6-globin gene. When introduced into COS cells. the gene was expressed at normal levels with proper
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