Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.
During a systematic screening of Algerian thalassemics by determining the DNA polymorphism haplotypes in the beta globin gene cluster, a novel haplotype was identified. The DNA of a homozygous individual was cloned and sequenced. The mutation, a G----A change, at position 5 of the small intervening sequence, probably interferes with normal splicing events, and, moreover, creates a new Eco RV restriction site that provides a useful diagnostic tool for detecting this condition.
D001483:Base Sequence; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific; D005914:Globins / Q000235:genetics*; D006238:Haploidy; D006801:Humans; D008970:Molecular Weight; D009154:Mutation; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C027440:GATATC-specific type II deoxyribonucleases