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 dHématologie, 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 94C (1 min.), annealing at 57C (1.5 min.) and extension at 72C (2 min.) in he presence of 10% DMSO, followed by a final extension step at 72C (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).



Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006