A Novel-Thalassemic Mutation, Codons 89/90-TG, Found in Two Korean Families.
- Author:
Young Joon LEE
1
;
Sung Sup PARK
;
Jiyeon KIM
;
Se Ick JOO
;
Seonyang PARK
;
Jong Weon CHOI
;
Soon Ki KIM
;
Kyou Sup HAN
;
Jin Q KIM
;
Eui Chong KIM
;
Myoung Hee PARK
;
Han Ik CHO
Author Information
1. Department of Clinical Pathology, Seoul National University College of Medicine, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Thalassemia;
Mutation;
Frameshift;
Koreans
- MeSH:
Anemia;
Asian Continental Ancestry Group;
Codon*;
Codon, Nonsense;
Globins;
Haplotypes;
Humans;
Reference Values;
RNA;
Thalassemia
- From:Korean Journal of Clinical Pathology
2001;21(2):160-163
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We describe a novel-thalassemia mutation, the deletion of TG at codons 89/90 of the globin gene, found in two unrelated Korean families. Their hematological findings varied, but some patients showed prominent anemia. This mutation would introduce a premature stop codon (TGA) at codon 93. But a RNA study revealed that the / ratio was within normal range, and the amount of the mutant -globin RNA was comparable to that of normal-globin RNA. These data suggests this novel mutation as a dominant type. The haplotype and frameworks linked to the mutation were different between the two families.
