A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient.
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.
Furuya
Chiemi
C
Division of Clinical Laboratory Science, Faculty of Health Sciences, Graduate School of Medicine, Yamaguchi University School of Medicine, Minami-Kogushi, Ube, Japan.
Yamashiro
Yasuhiro
Y
Hattori
Yukio
Y
Hino
Minako
M
Nishioka
Hiroko
H
Shimizu
Yoshihisa
Y
Okano
Kozue
K
Horibe
Keizou
K
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*