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Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity  Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le.

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Presentation on theme: "Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity  Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le."— Presentation transcript:

1 Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity 
Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le Deist, Jean-Louis Stéphan, Gérard Souillet, Marrie Bruin, Etienne Vilmer, Marion Schneider, Gritta Janka, Alain Fischer, Geneviève de Saint Basile  The American Journal of Human Genetics  Volume 64, Issue 1, Pages (January 1999) DOI: /302194 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigree of the 17 investigated FHL families. Age at disease onset, expressed in months, is indicated under the symbols for affected individuals. The American Journal of Human Genetics  , DOI: ( /302194) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Results of multipoint LOD score analysis using GENEHUNTER. LOD17 was obtained under the hypothesis of homogeneity, when all the FHL families were considered. LOD10 was obtained when only the 10 FHL families linked to chromosome 10 were considered. HLOD17 shows the results of the LOD score analysis under the heterogeneity hypothesis, when all families were considered. The X-axis is the genetic distance (in centimorgans) and the Y-axis is LOD score units. The positions of the genetic markers used in multipoint analysis are drawn to scale on the X-axis. The centromere is located to the left of the graph and is not shown. The American Journal of Human Genetics  , DOI: ( /302194) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Pedigree of family 3 and haplotype analysis of markers of the 10q21-22 region, showing absence of linkage, in this FHL family, to this region of chromosome 10. The American Journal of Human Genetics  , DOI: ( /302194) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Genotypes of contributing families for determination of the critical interval. Thicker-outlined boxes indicate haplotypes homozygous by descent in consanguineous families; thinner-outlined boxes indicate haplotypes shared by descent in the nonconsanguineous family. The American Journal of Human Genetics  , DOI: ( /302194) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

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