J Clin Pathol Qual Control.
2001 Dec;23(2):277-280.
beta-Thalassemia Mutation, IVS-II-1 G-->A Found in Koreans Uniquely Linked to the Silent Mutation C-->T at Codon 91 of the beta-Globin Gene
- Affiliations
-
- 1Department of Clinical Pathology, Seoul National University College of Medicine and Seoul National University Hospital, Kore. sparkle@plaza.snu.ac.kr
- 2Department of Clinical Pathology, Sung-Ae Hospital, Seoul, Korea.
Abstract
- The mutation spectrum of beta-thalassemia in the Korean population is heterogeneous and quite different from the highly prevalent areas. We found four families with beta-thalassemia due to IVS-II-1, G-->A mutation of the beta-globin gene, and they showed mild to moderate anemia (Hb 9.3-13.5 g/dL) and high levels of Hb A2 (5.6-6.4%). Very interestingly, IVS-II-1 mutation was linked to codon 91 C-->T and the framework type 2 in all of the Korean patients, and this type of linkage reported in the Japanese and Koreans only. Codon 91 C-->T of the beta-globin gene was not found in 550 normal individuals (1100 chromosomes), and it was thought as a very rare polymorphism. These results strongly suggest that this type of mutation in Koreans and the Japanese may be inherited from the identical origin. IVS-II-1 G-->A with codon 91 C-->T is unique linkage and may be useful for the genetic epidemiological study in the world.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Three Cases of beta-thalassemia in Children with HBB Gene Mutation
- A Familial Case of beta-Thalassemia Minor due to a Point Mutation (G-->A) at Position 1 in the Second Intervening Sequence
- RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans
- Development of Mutation Scanning Method for the Molecular Diagnosis of beta-thalassemia using Dideoxy Fingerprinting (ddF)
- Two Family Cases of the beta-Thalassemic Mutation, Codons 41/42-TTCT, Found in Koreans
