title: A novel (g)gamma(a)gamma(deltabeta)O-thalassemia with a 27 kb deletion.
abstract: A new (G)gamma(A)gamma(deltabeta)O-thalassemia (thal) was found in six unrelated Japanese individuals, and characterized by a method employing only polymerase chain reaction (PCR) and direct sequencing. This (G)gamma(A)gamma(deltabeta)O-thal mutation has removed a fragment of about 27 kb of DNA, that starts approximately 2.8 kb downstream of the Agamma-globin gene and ends in the L1 repeat sequence, 7.0 kb downstream of the beta-globin gene. The 5' breakpoint is similar to that of the previously reported Japanese (G)gamma(A)gamma(deltabeta)O-thal (called here Jpn type 1 for convenience). However, the 3' endpoint is quite different. This new Japanese deltabeta-thal, designated as Japanese type 2 (Jpn type 2), shows a deletion rather similar to Turkish type 3 deltabeta-thal but with 5' and 3' breakpoints located inside the deletion of Turkish type 3. A mutation-specific gap PCR was designed to diagnose patients with the Jpn type 2 (G)gamma(A)gamma(deltabeta)O-thal. The identified carriers exhibited a thalassemia minor.
authors.affiliation: Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yamashiro
authors.forename: Yukio
authors.initials: Y
authors.lastname: Hattori
authors.forename: Naoko
authors.initials: N
authors.lastname: Okayama
authors.forename: Emi
authors.initials: E
authors.lastname: Shinoda
authors.forename: Naomi
authors.initials: N
authors.lastname: Suyama
authors.forename: Tatehiko
authors.initials: T
authors.lastname: Tanaka
authors.forename: Shinji
authors.initials: S
authors.lastname: Ohi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins