Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11

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Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11 Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11.4 and Definition of a Locus Distinct from RP2 and RP3 Albert B. Seymour, Anita Dash-Modi, Jeffrey R. O'Connell, Maria Shaffer-Gordon, Tammy S. Mah, S. Tonya Stefko, Ramaiah Nagaraja, Jeremiah Brown, Alan E. Kimura, Robert E. Ferrell, Michael B. Gorin The American Journal of Human Genetics Volume 62, Issue 1, Pages 122-129 (January 1998) DOI: 10.1086/301667 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotype analysis of family 1, segregating COD1. The at-risk haplotype is hatched, to clearly show recombinations. Carrier females are indicated by a black dot within a circle, and affected males are indicated by blackened squares. Unblackened squares and circles without a black dot denote unaffected males and noncarrier females, respectively. A question mark (?) within a square indicates that the affection status has not been established. An arrow indicates the proband. The order of the markers is shown in the key to the left of the figure and is consistent with that for families 2 and 3 (figs. 2 and 3, respectively). Alleles within parentheses were inferred, with the exception of “(99)” in figures 2 and 3, which is an arbitrary number inserted to establish phase. The American Journal of Human Genetics 1998 62, 122-129DOI: (10.1086/301667) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotype analysis of family 2, segregating COD1. Symbols are as defined in the legend to figure 1. The American Journal of Human Genetics 1998 62, 122-129DOI: (10.1086/301667) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Haplotype analysis of family 3, segregating COD1. Symbols are as defined in the legend to figure 1. The American Journal of Human Genetics 1998 62, 122-129DOI: (10.1086/301667) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Map of the recombinations defining the critical COD1 region. The affected individuals define the critical region between DXS556 and DXS228, on the basis of recombinations. The unaffected individual narrows the critical region, on the basis of a recombination between DXS993 and DXS556. The dashed lines depict the smallest interval shared by affected individuals. The boldface lines represent the affected haplotypes. The marker order for DXS977 and DXS556 was determined by use of Segmap (Magness et al. 1993). This map is not drawn to scale. The American Journal of Human Genetics 1998 62, 122-129DOI: (10.1086/301667) Copyright © 1998 The American Society of Human Genetics Terms and Conditions