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Linkage Analysis of Hereditary Spherocytosis in Four Generations of a Family with SPTB Gene Deficiency
(Akad Doktorlar Yayınevi, 2012) Taşdemir, Pelin; Demirel, S. Sennur
Hereditary Spherocytosis (HS) is an inherited hemolytic anemia caused by the defects on membrane proteins and characterized by icterus, anemia and splenomegaly. Hereditary Spherocytosis clinically and genetically comprises a heterogeneous group of hemolytic anemias. In about 75% of the cases, the inheritance follows an autosomal dominant pattern and about 25% of cases occur sporadically. The aim of this study was to find which gene was responsible for the autosomal dominant HS in a large family of four generations. The linkage to the major HS genes (including SPTA1, SPTB, ANK1 ve SLC4A1) was searched by using LINKAGE and MERLIN analysis and LOD-score statistical calculations. As a result of using these analyses, we confirmed that the HS in this family was an autosomal dominant form of the disease and the incidence was linked to the SPTB gene which maps to chromosome 14. Linkage analysis is an effective prescreening method in genetically heterogeneous diseases and a new mutation analysis study is in the planning stage to detect the mutation in the SPTB gene.