title: The spectrum of beta-thalassemia genes in China and Southeast Asia.
abstract: To make possible prenatal diagnosis of beta-thalassemia in China and Southeast Asia by direct detection of mutant beta-globin genes, we have determined the spectrum of mutations producing the disorder in this region of the world. Seventy-eight beta-thalassemia genes from Chinese and Southeast Asians were randomly obtained, and the relevant mutation was characterized in 76 (98%) of them. Seven different point mutations were found among the 78 genes studied. Of these seven beta-thalassemia alleles, two constitute 62%, and two others account for 29% of the total. Since only four alleles make up 91% of the mutant genes, prenatal diagnosis of beta-thalassemia in China and Southeast Asia should be feasible by simplified techniques for direct detection of point mutations.
mesh_terms: D001210:Asia, Southeastern; D002681:China; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins