The Precise Breakpoints of a Filipino-Type α-Thalassemia-1 Deletion Found in two Japanese

Y. Hattori Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144, Kogushi, Ube, 755-8505, JapanCorrespondence[email protected]

N. Okayama Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144, Kogushi, Ube, 755-8505, Japan

Y. Ohba Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144, Kogushi, Ube, 755-8505, Japan

Y. Yamashiro Department of Allied Health Sciences, Yamaguchi University, 1144, Kogushi, Ube, 755-8505, Japan

Ku. Yamamoto Department of Allied Health Sciences, Yamaguchi University, 1144, Kogushi, Ube, 755-8505, Japan

I. Tsukimoto Department of Pediatrics, Toho University School of Medicine, 6-11-1 Ohmori-Nishi, Ota-ku, Tokyo, 143-0015, Japan

M. Kohakura Kohakura Clinic, 3-7-16, Kumochi, Naha, 900-0015, Japan

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Abstract

The breakpoints of α-thalassemia-1 were thoroughly characterized in two Japanese families. The crossover occurred between Alu repeats at about 1.28 kb 5′ to the ζ2 gene and about 1.2 kb 3′ to the 1 gene, resulting in the deletion of a 30.656 kb-long segment. These breakpoints are consistent with those surmised for the “Filipino type (-FIL)” deletion by Southern blot analysis. Also the length of the 3′ hypervariable region of the α-globin gene conformed to that of -FIL. The two Japanese families are related to the Taiwanese and Filipino families.

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The Precise Breakpoints of a Filipino-Type α-Thalassemia-1 Deletion Found in two Japanese

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The Precise Breakpoints of a Filipino-Type α-Thalassemia-1 Deletion Found in two Japanese

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