PHD theses : Medical Laboratory Science
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Item GENOME WIDE SEARCH FOR VISCERALLEISHMANIASIS SUSCEPTIBILITY GENESIN SUDANESE POPULATION(ALNEELAIN UNIVERSITY, 2005-10) MANAL AHMED MOHAMED AHMED FADLABSTRACT Sudan is one of the major foci of visceral leishinaniasis (VL) globally (the other two foci are Brazil and India). Familial clustering and ethnic differences suggest genetic factors may be involved in the infection. In this study a two stages genome-wide scan was employed using two independent sets of families from two villages: El-Rugab and Um—Salala. located 40 kilometers apart in the heart of the endemic area of eastem Sudan. These villages are inhabited by the Masalit ethnic group who migrated from westem Sudan in the 1980s. In the first stage (= scanl) we genotyped 400 highly polymorphic microsatellite markers (approximately 10 cM apart) in 220 individuals from 38 multicase pedigrees (= scanl families) comprising 48 nuclear families (1 18 affected sibs). Scan] was followed by grid tightening strategy in which 35 additional markers were added close to regions that gave suggestive evidence for linkage of VL susceptibility in scan 1. These markers were typed in scanl families. ln the second stage (scan2). 20 markers from positive regions of linkage and the 35 additional markers were all typed in family set 2 (=scan2 families: 21 nuclear families, 48 affected sibs). ln scan 1, the multipoint analysis performed provided evidence for linkage of VL susceptibility to 5 regions on chromosome lp22, ]q3l.3. 5q34-35.3, 6q27 and l3q 31.1 (0.0002