The precise breakpoints of a Filipino-type alpha-thalassemia-1 deletion found in two Japanese.
The breakpoints of alpha-thalassemia-1 were thoroughly characterized in two Japanese families. The crossover occurred between Alu repeats at about 1.28 kb 5' to the zeta2 gene and about 1.2 kb 3' to the theta1 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 alpha-globin gene conformed to that of --FIL. The two Japanese families are related to the Taiwanese and Filipino families.
Hattori
Y
Y
Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, Kogushi, Ube, Japan. hattori-ygc@umin.ac.jp
Okayama
N
N
Ohba
Y
Y
Yamashiro
Y
Y
Yamamoto
K
K
Tsukimoto
I
I
Kohakura
M
M
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002681:China / Q000208:ethnology; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008969:Molecular Sequence Data; D010375:Pedigree; D010679:Philippines / Q000208:ethnology; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid; D017085:alpha-Thalassemia / Q000235:genetics*