A novel deletion in delta beta-thalassemia found in Japan.
High molecular weight DNA from a Japanese individual homozygous for delta beta-thalassemia was analyzed by the blot hybridization technique of Southern. Results indicated a large deletion of the non-alpha-globin gene cluster, starting in the vicinity of 3' to the A gamma-globin gene and extending through the 3' side of the beta-globin gene. Persistent expression of the gamma-globin gene in adult life has been supposed to be caused by loss of a region located about 3-4 kb 5' to the delta-globin gene from comparison of the extents of deletions in several different forms of delta beta-thalassemia and HPFH (hereditary persistence of fetal hemoglobin). But the novel deletion found in the present case of delta beta-thalassemia suggests that the above putative regulatory region does not have this effect on expression of the gamma-globin gene. Some explanations of expression of fetal type globin genes in this delta beta-thalassemia are discussed.
Matsunaga
E
E
Kimura
A
A
Yamada
H
H
Fukumaki
Y
Y
Takagi
Y
Y
D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D004262:DNA Restriction Enzymes / Q000378:metabolism; D006801:Humans; D009693:Nucleic Acid Hybridization; D013789:Thalassemia / Q000235:genetics*
D004247:DNA; D004262:DNA Restriction Enzymes