Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene.
DNA analysis of a Northern Thai family with a child affected with beta-thalassemia major revealed a novel deletion of 3.4 kb removing the entire beta-globin gene in the proposita and her mother. Detailed mapping of the deletion located the 5' breakpoint in the region between nucleotides -810 and -128 of the beta-globin locus, and the 3' breakpoint between the Ava II and Xmn I sites located downstream of the beta-globin gene. The father transmitted a codon 17 nonsense mutation, a beta-thalassemia variant common in Thailand, to the child.
Sanguansermsri
T
T
Human Genetics Unit, Faculty of Medicine, Chiangmai University, Thailand.
Pape
M
M
Laig
M
M
Hundrieser
J
J
Flatz
G
G
D001482:Base Composition / Q000502:physiology; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D013785:Thailand; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA