Albena Jordanova, Florian P

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Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35 Albena Jordanova, Florian P. Thomas, Velina Guergueltcheva, Ivailo Tournev, Francisco A.A. Gondim, Borjana Ishpekova, Els De Vriendt, An Jacobs, Ivan Litvinenko, Neviana Ivanova, Borjan Buzhov, Peter De Jonghe, Ivo Kremensky, Vincent Timmerman The American Journal of Human Genetics Volume 73, Issue 6, Pages 1423-1430 (December 2003) DOI: 10.1086/379792 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotype analysis in pedigrees CMT-160 (A) and CMT-176 (B). Pedigree structures and sex of patients were disguised to preserve anonymity. For reasons of confidentiality, we did not reveal the genotypes of the asymptomatic individuals in the youngest generations. These persons were also excluded from the linkage calculations. Patient CMT-176.V.12 was considered to have unknown disease status, since no NCVs were available. Patient CMT-176.VI.3 shared the disease-associated haplotype of family CMT-176 but had a 2-bp difference in the allele size of marker D1S234, probably owing to Taq DNA polymerase slippage during PCR. Markers were PCR amplified on a PTC-220 DNA Engine DYAD (MJ Research) and were pooled using a Beckman Biomek workstation. Fragment analysis was performed by capillary electrophoresis on an ABI PRISM 3700 DNA analyzer and was processed with GeneScan Analysis, version 3.5, and Genotyper, version 3.7, software (Applied Biosystems). Alleles were sized according to the CEPH control DNA (1347.02) and are shown in base pairs. STR markers are ordered from telomere (top) to centromere (bottom). Unblackened diamond = unaffected; blackened diamond = affected; half-blackened diamond = unknown status; slashed diamond = deceased; arrow = recombination event; box = disease-associated haplotype; 0 = failed genotype. The American Journal of Human Genetics 2003 73, 1423-1430DOI: (10.1086/379792) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Sex-averaged linkage map of chromosome 1p34-p36 markers used in the present study. The genetic position of each marker (in cM) is obtained from the Marshfield chromosome 1 sex-averaged linkage map. Markers defining the DI-CMTC region are shown in boldface type. Arrows delineate the CMT2A locus, as defined by Ben Othmane et al. (1993) and Saito et al. (1997), and the DI-CMTC locus, as defined in the present study by the genetic analysis of families CMT-160 and CMT-176. SDC3 and LAPTM5 are positional candidate genes for DI-CMTC. KIF1B is the gene mutated in CMT2A (Zhao et al. 2001). The American Journal of Human Genetics 2003 73, 1423-1430DOI: (10.1086/379792) Copyright © 2003 The American Society of Human Genetics Terms and Conditions