Hb Volga [beta 27(B9)Ala-->Asp]: detection of a de novo mutation by Ava II digestion of PCR-amplified DNA.
Hb Volga was observed as a de novo mutation in a 5-year-old boy from Tuzla, Bosnia and Hercegovina, who exhibited severe Heinz body hemolytic anemia. The variant was detected and quantitated at 10.6% by a reversed phase high performance liquid chromatography (HPLC) procedure. Structural characterization was done by HPLC analysis. An easier approach for the detection of Hb Volga by Ava II digestion of polymerase chain reaction-amplified DNA is described.
Plaseska
D
D
Research Center for New Technologies, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
Koceva
S
S
Rasovic
N
N
Efremov
G D
GD
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005914:Globins / Q000235:genetics*; D006683:HLA-DQ Antigens / Q000235:genetics; D059848:HLA-DQ alpha-Chains; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; C069050:HLA-DQA1 antigen; D006455:Hemoglobins, Abnormal; C045643:hemoglobin Volga; D005914:Globins; D015252:Deoxyribonucleases, Type II Site-Specific; C038308:GGWCC-specific type II deoxyribonucleases