HOMOGENEITY OF THE Hb LEPORE GENE IN FR YUGOSLAVIA
Urosevic J1, Djureinovic T1, Poznanic J1, Cvorkov-Drazic M2, Bunjevacki G2, Janic D3, Krivokapic-Dokmanovic L3, Popovic Z1, Pavlovic S1
*Corresponding Author: Dr. Sonja Pavlovic, Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, 11000 Belgrade, FR Yugoslavia; Tel: +381 11 3976 445; Fax: +381 11 3975 808; E-mail: sonya@sezampro.yu
page: 29

Abstract

Screening analysis of Yugoslav patients with suspect­ed thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and b-tha­lassemia, and they were affected with a thalassemia major syndrome. Family studies revealed 12 heterozygous relatives. All heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait. The detection of Hb Lepore was carried out by electrophoresis on cellulose acetate and confirmed by gap-polymerase chain reaction analysis of patients’ DNA. Sequence analysis of all the Hb Lepore genes showed the same DNA sequence, indicating that the mutation was of the Hb Lepore-Boston-Washington type. Moreover, a single base sub­stitution within the second intervening sequence [IVS-II-74 (G®T)] was detected in all analyzed hybrid genes. The molecular characteristics of this homogeneity repre­sent additional data for the probable Balkan origin of this mutation.

Key words: frameworks (FWs), Hb Lepore, hemoglobin (Hb) variants.




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