| 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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| 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
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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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