A β-Thalassemia Mutation Found in Korea

Koo, Myeong Suk; Kim, S. I.; Cho, H. I.; Hattori, Yukio; Yamashiro, Yasuhiro; Hoshitani, M.; Ohba, Yusuke; Miyaji, T; Yamamoto, K; Yamamoto, Kiichi

doi:10.3109/03630269208998875

Cited by 14 publications

(8 citation statements)

References 10 publications

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“…Mutations of the ␤-globin gene initiation codon have been described in several different populations. Including the novel ATG→AAG mutation presented in this report, seven of the nine possible single-base substitutions have been reported [12][13][14][15][16][17][18][19][20][21][22]. It is of interest that the hematologic profile of the patient described in this report is more severe than typical ␤-thalassemia trait.…”

Section: Discussionmentioning

confidence: 73%

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

et al. 1997

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We present a case of beta-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the beta-globin gene initiation codon (ATG-->AAG) which should give rise to beta(0)-thalassemia trait. The possibility of non-paternity was excluded, indicating that the novel mutation was the result of a de novo event. A review of the literature indicates that mutations involving the beta-globin gene initiation codon can give rise to a more severe phenotype than is generally associated with most other beta(+) or beta(0) mutations.

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Section: Discussionmentioning

confidence: 73%

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

et al. 1997

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“…Initiation codon mutations have been described in both the (x (Pirastu et al, 1984) and p-globin gene (Jankovic et al, 1990;Kazazian, 1990;Hattori et al, 1991;Koo et al, 1992). All these mutations completely inactivate the affected globin gene.…”

Section: Introductionmentioning

confidence: 99%

A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene

et al. 1992

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“…The patients had five types of -thalassemic mutations: the initiation codon ATG→AGG, codon 17 AAG→TAG, codons 41/42 -TTCT, codons 8/9 +G, and codons 89/90 -TG, all of which were heterozygous mutations (9)(10)(11).…”

Section: Subjectsmentioning

confidence: 99%

RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans

et al. 2002

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Korea is in the low-prevalence area of -thalassemia and the Korean population has relatively homogenous racial characteristics. Recently, we identified some causative mutations of the Korean -thalassemia patients. In order to elucidate the genetic background of -thalassemia alleles in Koreans, we determined the restriction fragment length polymorphism (RFLP)-haplotype and framework (FW) in nine -thalassemia chromosomes of five different causative mutations by PCR-based method and family linkage study. The result that the haplotype and the framework linked to the initiation codon ATG→AGG mutation were -+-++-+ and FW3A, respectively, in all of three families in this study suggests a common origin of this mutation at least in Koreans. A novel -thalassemia mutation, codons 89/90 -TG, showed discrepancy between -++-++-and FW1, which could be explained by gene conversion. A case of codons 8/9 +G frameshift mutation had +----++ and FW1. The linkage of the two -thalassemia mutations, codon 17 AAG→TAG and codons 41/42 -TTCT, with specific haplotypes and frameworks common to the Koreans and the neighboring countries suggests that those mutations are influenced by the genetic flow from the south China.

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A β-Thalassemia Mutation Found in Korea

Cited by 14 publications

References 10 publications

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene

RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans

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