A common Chinese beta-thalassemia mutation found in a Japanese family

Y Naritomi; H Nakashima; M Kagimoto; Y Naito; E Yokota; T Imamura

doi:10.1007/BF00195825

A common Chinese beta-thalassemia mutation found in a Japanese family

Hum Genet. 1990 Apr;84(5):480-2. doi: 10.1007/BF00195825.

Authors

Y Naritomi¹, H Nakashima, M Kagimoto, Y Naito, E Yokota, T Imamura

Affiliation

¹ First Department of Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

PMID: 1969846
DOI: 10.1007/BF00195825

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

China
DNA Probes
Globins / genetics*
Humans
Japan
Male
Middle Aged
Mutation*
Polymorphism, Restriction Fragment Length
Thalassemia / ethnology
Thalassemia / genetics*

Substances

DNA Probes
Globins