title: Identification of a beta-thalassemia mutation associated with a novel haplotype of RFLPs.
abstract: The study of the molecular defects that result in beta-thalassemia in Mediterraneans has uncovered a large number of unique mutations. This information is already being utilized for prenatal diagnosis of pregnancies at risk. Here, we report the definitive identification, by molecular cloning, of the beta-thalassemia mutation associated with a Mediterranean chromosome bearing a novel haplotype of restriction fragment length polymorphisms (RFLPs) in the beta gene cluster that has been previously designated as haplotype X. The thalassemia mutation was identified as a T----C base substitution at IVS-1 position 6, a mutation previously described in association with haplotype VI. We describe the use of the restriction enzyme SfaNI for the detection of this mutation and point out a possible pitfall that should be avoided if such an approach is used for the detection of this mutation, which appears to be a common cause of mild beta+-thalassemia in some populations.
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005914:Globins; D004262:DNA Restriction Enzymes