HB Volga [β27(B9)ALA→ASP]: Detection of a DE Novo Mutation by AVA II Digestion of PCR-Amplified DNA

D. Plaseska Research Center for New Technologies, Macedonian Academy of Sciences and Arts, 91000, Skopje, Republic of Macedonia

S. Koceva Research Center for New Technologies, Macedonian Academy of Sciences and Arts, 91000, Skopje, Republic of Macedonia

N. Rasovic Institute of Mother and Child Health Care Clinic of Pediatrics, Faculty of Medicine, 11000, Belgrade, S.R., Yugoslavia

G. D. Efremov Research Center for New Technologies, Macedonian Academy of Sciences and Arts, 91000, Skopje, Republic of Macedonia

Abstract

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.

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HB Volga [β27(B9)ALA→ASP]: Detection of a DE Novo Mutation by AVA II Digestion of PCR-Amplified DNA

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HB Volga [β27(B9)ALA→ASP]: Detection of a DE Novo Mutation by AVA II Digestion of PCR-Amplified DNA

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