-Thalassemia Mutations in Koreans
| Project/Area Number |
06044262
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| Research Category |
Grant-in-Aid for Overseas Scientific Survey.
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| Allocation Type | Single-year Grants |
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| Research Institution | Yamaguchi University School of Medicine |
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Principal Investigator |
OHBA Yuzo Yamaguchi University School of Medicine, 医学部, 教授 (10035199)
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| Co-Investigator(Kenkyū-buntansha) |
HARANO Teruo Kawasaki Medical School, 助教授 (60069028)
HATTORI Yukio Yamaguchi University School of Medicine, 医学部, 助教授 (80144955)
FUKUMAKI Yasuyuki Institute of Genetic Information, Kyusyu University, 遺伝情報研究施設, 教授 (90128083)
CHO Han-ik Seoul National University School of Medicine, 医学部, 教授
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| Project Period (FY) |
1994
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| Project Status |
Completed (Fiscal Year 1994)
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| Keywords | Thalassemia / Hemoglobin variant / Hemolytic anemia |
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| Research Abstract |
A main purpose of this project is to fill in an area of the world map of geographical distribution of thalassemia and hemoglobin variants by survey and identification of mutation of hemoglobin genes in Koreans. As the results of cooperation between Japan and Korea, especially between Department of Clinical Laboratory Science, Yamaguchi University School of Medicine and Department of Clinical Pathology, Seoul National University School of Madicine, Seoul University Hospital has started to function as the Korean research center for thalassemia and hemoglobinopathy.
Clinical data and blood samples of suspected cases throughout Korea were collected in Seoul University. Past and present data of complete blood counts (CBC) were screened for possibility of thalassemia trait. The results of such efforts gave a rough estimate of 0.01 to 0.1% for the prevalence of beta-thalassemia traits in Koreans.
Seven different beta-thalassemia mutations have so far been identified in 14 Korean families. All e
… More
xcept one were the products of this and related cooperative projects.
Codon 32-34,3 bases deletion (Hb Korea) ; "dominant" beta-thal.
Initiation codon, base substitution (5 families) ; usual beta-thal trait.
Codon 17, termination (4 families) ; usual beta-thal trait.
Codon 121, termination ; "dominant" beta-thal or usual beta-thal trait.
IVS-I-130, base substitution (2 kinds) ; usual beta-thal trait.
Codon 41-42,4 bases deletion ; usual beta-thal trait.
Following hemoglobin variants were identified in the cooperative projects. Except for Hb G-Coushatta and Hb Queens, they are new to Koreans.
Hb Queens [alpha34 (B15) Leu*Arg] (2 families) ; clinically silent.
Hb G-Coushatta [beta22 (B3) Glu*Ala] (2 families) ; clinically silent.
Hb M-Saskatoon [beta63 (E7) His*Tyr] ; congenital cyanosis.
Hb Southampton [beta106 (G8) Leu*Pro] ; severe congenital hemolytic anemia.
Marked heterogeneity and low requency of mutations in hemoglobin genes seem to be common to Koreans and Japanese. Further data are required, however, for full characterization of Koreans and comparison with people of surrounding countries. Less
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Report
(1 results)
Research Products
(12 results)
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[Publications] Park SS,Lee YJ,Joo SI,Yoon KY,Cho HI,Park NH,Kim HS: "Three cases of β-thalassemia due to initiation codon mutation ATG→AGG." Abstract,The Annual Meeting of Korean Society of Medical Genetics,Seoul,Korea,Nov,1994. (1994)
Description
「研究成果報告書概要(和文)」より
Related Report
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[Publications] Cho HI,Park SS,Lee NY,Koo MS,Ohba Y,Hattori Y,Weatherall DJ,Thein SL: "β-Thalassemia mutations in Koreans." Abstract,The XVII World Congress of Anatomic and Clinical Pathology,World Association of Society of Pathology,Acapulco,Mexico,Oct,1993. (1993)
Description
「研究成果報告書概要(和文)」より
Related Report
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[Publications] Park SS,Lee YJ,Joo SI,Yoon KY,Cho HI,Park NH,Kim HS: "Three cases of beta-thalassemia due to intiation codon mutation ATG*AGG." Abstract, The Annual Meeting of Korean Society of Medical Genetics, Seoul, Korea. Nov, 1994. (1994)
Description
「研究成果報告書概要(欧文)」より
Related Report
-
[Publications] Cho HI,Park SS,Lee NY,Koo MS,Ohba Y,Hattori Y,Weatherall DJ,Thein SL: "beta-Thalassemia mutations in Koreans." Abstract, The XVII World Congress of Anatomic and Clinical Pathology, WASP,Acapulco, Mexico, 1993. (1993)
Description
「研究成果報告書概要(欧文)」より
Related Report
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