Figure 1.

Linkage to Chromosome 10p11.1-p12 in Four THC2 Families

Segregation of microsatellite marker haplotypes in the THC2 locus on chromosome 10p11.1-p12 (with the corresponding Mb positions) in the two large THC2-linked families (Family 1 and 2) and in the two smaller families (families 3 and 4). Black symbols indicate affected individuals, and white symbols indicate healthy ones. Slashed symbols mean that those individuals are deceased. Only individuals for whom the corresponding haplotypes are reported were genotyped. Families 1 and 2, which carry the c.-128G>A and c.-127A>T mutations, respectively (Table 1), are consistent with linkage at the THC2 locus. Families 3 and 4 do not provide significant LOD scores, but their 10p11.1-p12 region segregates consistently with the disease. Family 3 carries the c.-118C>T mutation (Table 1). No mutation in ANKRD26 was found in the affected members of family 4, and therefore segregation of the haplotype is probably not related to the disease in this family. A 0/0 in the haplotype means unsuccessful genotyping for the marker in that individual. Haplotype representation was obtained with Haplopainter version 1.0.¹⁷