Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7 Sharan Goobie,

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Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7 Sharan Goobie, Maja Popovic, Jodi Morrison, Lynda Ellis, Hedy Ginzberg, Graeme R.B. Boocock, Nadia Ehtesham, Christine Bétard, Carl G. Brewer, Nicole M. Roslin, Thomas J. Hudson, Kenneth Morgan, T. Mary Fujiwara, Peter R. Durie, Johanna M. Rommens The American Journal of Human Genetics Volume 68, Issue 4, Pages 1048-1054 (April 2001) DOI: 10.1086/319505 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of families with SDS, indicating individuals from whom DNA was available. The families were from Canada, the United States, England, and The Netherlands; all families were white, and none were known to have consanguineous matings. Affected individuals are denoted by black symbols. A, Multiplex families used to map the SDS locus to chromosome region 7p12-q11. B, Additional families used in the refined mapping (see table 1). The American Journal of Human Genetics 2001 68, 1048-1054DOI: (10.1086/319505) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Multipoint LOD scores for the location of the SDS locus. Black circles (○) indicate the positions of the markers. The map of 30 markers appears to be longer than is indicated in table 1 because the Haldane mapping function was used. Black triangles (▾) indicate the positions of the two markers flanking the candidate region, and white triangles (▿) indicate the positions of the markers used in the genomewide scan. LOD scores <−2.5 are not shown. The American Journal of Human Genetics 2001 68, 1048-1054DOI: (10.1086/319505) Copyright © 2001 The American Society of Human Genetics Terms and Conditions