A common Chinese beta-thalassemia mutation found in a Japanese family.
We have identified the substitution of a thymine for a cytosine at nucleotide position 654 in the second intron of the beta-globin gene that causes beta-thalassemia in a Japanese family. This mutation was reported to occur rather frequently in patients of Chinese origin, but has rarely been found in other ethnic groups.
Naritomi
Y
Y
First Department of Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Nakashima
H
H
Kagimoto
M
M
Naito
Y
Y
Yokota
E
E
Imamura
T
T
D002681:China; D015342:DNA Probes; D005914:Globins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics*
D015342:DNA Probes; D005914:Globins