Balkan Journal of Medical Genetics

Hb HELLUX [α76(EF5)Met->Ile (α2)]: A NEW NEUTRAL VARIANT FOUND IN A GREEK MALE
Kalmes G1, Golinska B1, Wodelet C1, Groff P1, Préhu C2,3, Riou J3, Wajcman H2,3
*Corresponding Author: Mr. Guy Kalmes, Laboratoire National de Santé, Division d’Hématologie, BP 1102, L-1011 Luxembourg; Tel.: +352-49-11-91-356; Fax: +352-405-402; E-mail: Guy.Kalmes@lns.etat.lu
page: 53

MATERIALS AND METHODS

Hematological studies were performed using routine methods. Hemoglobin was studied according to methods previously described [1-3]. The phenotype was characterized using a battery of electrophoretic and chromatographic tests that included isoelectric focusing (IEF) on polyacrylamide gel, electrophoresis of the hemolysate under various experimental conditions and high performance liquid chromatography by cation exchange and reversed phase high performance liquid chromatography (HPLC) [4]. After selective amplification of fragments of the α1 and α2 genes by polymerase chain reaction (PCR), the mutation was characterized by DNA sequencing. DNA amplification of the abnormal fragment made use of the primers 5’-GAT GCA CCC ACT GGA CTC CT-3’ and 5’-CAA AGA CCA GGA AGG GCC GG-3’, and involved 30 cycles of denaturation at 94°C (1 min.), annealing at 57°C (1.5 min.) and extension at 72°C (2 min.) in he presence of 10% DMSO, followed by a final extension step at 72°C (7 min.). Sequencing was performed on a 3100 ABI PRISM™ 3100 Genetic Analyzer (Applied BioSystems, Foster City, CA, USA), using as primers 5’-GAT GTT CCT GTC CTT CC-3’ (forward) and 5’-TGA AGT TCA CCG GGT CCA CC-3’ (reverse).

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