Restriction fragment length polymorphism of the human beta-globin gene cluster: analysis of a beta-thalassemic family in Taiwan.
We have analysed seven polymorphic restriction sites of the human beta-globin gene cluster of six members of a Chinese family with a beta +-thalassemic sibling. The seven polymorphic sites analysed are the HincII site at the 5'-end of the epsilon-globin gene, the HindIII sites in the two gamma-globin genes, two HincII sites within and at the 3'-end of the psi beta 1 pseudogene, the AvaII site in the beta-globin gene and the BamHI site located at the 3' side of the beta-globin gene. The beta thal chromosome has been identified to have a haplotype of +----++ with respect to these seven polymorphic sites. This is also the most predominant haplotype associated with beta +-thalassemia in Mediterranean and Chinese populations (Chen et al., 1984; Orkin et al., 1982). Of the seven sites analysed in this family, four will be useful in prenatal diagnosis of beta-thalassemia in subsequent pregnancies in the family.
D004262:DNA Restriction Enzymes; D005796:Genes; D005822:Genetic Vectors; D005914:Globins / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D010957:Plasmids; D011110:Polymorphism, Genetic; D013624:Taiwan; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D004262:DNA Restriction Enzymes