title: A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient.
abstract: A novel large deletion, causing epsilon gamma delta beta thalassemia (here called, epsilon gamma delta beta thalassemia Jpn-I) was discovered in a 6-year-old Japanese boy. He was born uneventfully, but revealed thalassemia minor after birth. The mutation was inherited from his mother. The deletion, caused by an illegitimate recombination extended from 750 kb upstream to 660 kb downstream of e-globin gene, and removed about 1.4 Mb of DNA, the largest in epsilon gamma delta beta thalassemias. A 19-nucleotide orphan sequence and direct repeats were present at the junction. The deletion lost several functional genes, but no relevant symptoms manifested. The breakpoints were determined by relatively simple methods.
authors: Division of Clinical Laboratory Science, Faculty of Health Sciences, Graduate School of Medicine, Yamaguchi University School of Medicine, Minami-Kogushi, Ube, Japan.
authors: Chiemi
authors: C
authors: Furuya
authors: Yasuhiro
authors: Y
authors: Yamashiro
authors: Yukio
authors: Y
authors: Hattori
authors: Minako
authors: M
authors: Hino
authors: Hiroko
authors: H
authors: Nishioka
authors: Yoshihisa
authors: Y
authors: Shimizu
authors: Kozue
authors: K
authors: Okano
authors: Keizou
authors: K
authors: Horibe
mesh_terms: D001483:Base Sequence; D002648:Child; D017124:Conserved Sequence; D017353:Gene Deletion; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D013789:Thalassemia / Q000145:classification / Q000235:genetics*