Double heterozygosity of the beta-Malay and a novel beta-thalassemia gene in a Thai patient.
The beta-globin genes from a Thai patient compound heterozygous for beta(+)- and beta zero-thalassemias were investigated. Amplification and DNA analysis of genomic DNA by the polymerase chain reaction procedure permitted the identification of the beta-Malay mutation (beta 19;AAC-AGC) in one allele and a novel beta zero-thalassemia mutation (41;TTC-TT) in another allele.
Fucharoen
S
S
Department of Clinical Chemistry, Faculty of Associated Medical Science, Khon Kaen University, Thailand.
Fucharoen
G
G
Laosombat
V
V
Fukumaki
Y
Y
D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA; D005260:Female; D005784:Gene Amplification; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D013785:Thailand; D013789:Thalassemia / Q000235:genetics*
D004247:DNA