Tamara Rogers, David Chandler, Dora Angelicheva, P. K

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A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23 Tamara Rogers, David Chandler, Dora Angelicheva, P.K. Thomas, Bryan Youl, Ivailo Tournev, Velina Gergelcheva, Luba Kalaydjieva The American Journal of Human Genetics Volume 67, Issue 3, Pages 664-671 (September 2000) DOI: 10.1086/303053 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Extended pedigree in which HMSNR was identified. Blackened symbols denote subjects affected by HMSNR; symbols containing a vertical line denote subjects affected by HMSNL, which is the other neuropathy in this kindred. The American Journal of Human Genetics 2000 67, 664-671DOI: (10.1086/303053) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotypes in the region of linkage on 10q22-q23. Marker order is according to the Sanger Centre physical map. For the SNP at nucleotide 1219 of the EGR2 gene, “1” denotes the A allele and “2” denotes the C allele. A, First pedigree used in the genome scan and linkage analysis. For individual R-23, the asterisk (*) denotes a microsatellite mutation, in D10S589, that is assumed to be present on the basis of the conserved flanking haplotypes. B, Second pedigree used in the genome scan and linkage analysis. Different alleles of EGR2 were found to segregate in the two affected branches. Maternal recombination in individual R-11 places the centromeric boundary at D10S581. C, Affected siblings included in the analysis of the 10q22-q23 region. A recombination event in individual R-17 defines marker D10S537 as the telomeric boundary of the HMSNR-gene region. The American Journal of Human Genetics 2000 67, 664-671DOI: (10.1086/303053) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Marker haplotypes in the 5.2-cM interval (D10S581–D10S537) defined by linkage analysis. Markers D10S561 and EGR2 are included to show the position of EGR2. Marker order is according to the Sanger Centre physical map. Haplotype and EGR2 allele designations are the same as those used in figure 2. Haplotypes N and M are products of the recent recombinations in individuals R-11 and R-17. The two affected members of the large kindred, who were not included in the linkage study, displayed haplotypes D/K and H/J. The unblackened area indicates the assumed ancestral haplotype. Historical recombinations place the HMSNR gene between markers D10S581 and D10S1742. The American Journal of Human Genetics 2000 67, 664-671DOI: (10.1086/303053) Copyright © 2000 The American Society of Human Genetics Terms and Conditions