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. 1999 Oct 15;65(5):1308–1320. doi: 10.1086/302623

Figure 7.

Figure 7

Haplotypes across the cTnT locus associated with the Arg92Trp mutation. The disease-associated haplotype in representative subsets of families Ped100, Ped109, Ped137, Ped139, and Ped142, as well as the assumed haplotype of individual SB385, bearing the Arg92Trp mutation are boxed. In the married-in individual, the genotype at each marker locus is shown; a haplotype was not constructed, since the phase was unknown. The marker loci used in haplotype construction, covering a distance of 11.2 cM, are indicated to the left of the subsets, in centromeric-telomeric order, from top to bottom. The frequencies of the alleles at the markers genotyped in the control mixed-ancestry subpopulation were as follows, listed in the order of marker-allele number: F13B—1 (.28), 2 (.23), 3 (.14), 4 (.08), and 5 (.27); TnTex9—1 (.70) and 2 (.30); and D1S53—1 (.05), 2 (.09), 4 (.02), 5 (.02), 7 (.05), 8 (.02), 9 (.11), 10 (.12), 11 (.09), 12 (.06), 13 (.09), 14 (.05), 15 (.14), 16 (.02), and 17 (.07). Note that, although, in the Ped100 subset shown, there were no HCM-affected mutation carriers, in the extended pedigree there were numerous affected individuals (Moolman et al. 1997). R = arginine; W = tryptophan.