A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1- p32 Mathilde Varret, Jean-Pierre Rabès, Bruno Saint-Jore, Ana Cenarro,

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A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1- p32 Mathilde Varret, Jean-Pierre Rabès, Bruno Saint-Jore, Ana Cenarro, Jean-Christophe Marinoni, Fernando Civeira, Martine Devillers, Michel Krempf, Monique Coulon, Rochelle Thiart, Maritha J. Kotze, Helena Schmidt, Jean-Claude Buzzi, Gert M. Kostner, Stephano Bertolini, Miguel Pocovi, Alberto Rosa, Michel Farnier, Maria Martinez, Claudine Junien, Catherine Boileau The American Journal of Human Genetics Volume 64, Issue 5, Pages 1378-1387 (May 1999) DOI: 10.1086/302370 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Segregation of chromosome 1p34.1-p32 markers in the French family HC2. Lipid values given under each family-member symbol are (top to bottom): age at lipid measurement; levels of total, LDL, and HDL cholesterol (in grams per liter); levels of triglycerides (in grams per liter); and apoE genotype (INNO-LiPA ApoE, Innogenetics, Murex, Châtillon) (Harrington et al. 1994). Haplotypes (top to bottom) at tel-D1S255-D1S472-D1S2892-D1S2722-D1S211-D1S197-cen markers are shown for each family member tested. Half-blackened symbols indicate affected members, unblackened symbols indicate unaffected members, and hatched symbols indicate members with an unknown phenotypic status. The haplotype in brackets of subject I-1 was unequivocally deduced. The common region segregating with the disease phenotype in the family is boxed. The American Journal of Human Genetics 1999 64, 1378-1387DOI: (10.1086/302370) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Segregation of chromosome 1p34.1-p32 markers in the Spanish families S113, S601, S150, and S517. Lipid values given under each family-member symbol are (top to bottom): age at lipid measurement levels of total, LDL, and HDL cholesterol (in grams per liter); and levels of triglycerides in (grams per liter). Haplotypes (top to bottom) at tel-D1S472-D1S2892-D1S2722-D1S211-cen markers are shown for each family member tested. Half-blackened symbols indicate affected members and unblackend symbols indicate unaffected members. The common region transmitted with the disease phenotype in each family is boxed. The American Journal of Human Genetics 1999 64, 1378-1387DOI: (10.1086/302370) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Segregation of chromosome 1p34.1-p32 markers in the Sardinian families It3 and It4. Lipid values given under each family-member symbol are (top to bottom): age at lipid measurement; levels of total, LDL, and HDL cholesterol (in grams per liter); and levels of triglycerides (in grams per liter). Haplotypes (top to bottom) at tel-D1S2892-D1S2722-D1S211-cen markers are shown for each family member tested. Blackened symbols indicate affected members, unblackened symbols indicate unaffected members, and hatched symbols indicate members with an unknown phenotypic status. The American Journal of Human Genetics 1999 64, 1378-1387DOI: (10.1086/302370) Copyright © 1999 The American Society of Human Genetics Terms and Conditions