Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region Mansoor Sarfarazi, Anne Child, Diliana Stoilova,

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Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region Mansoor Sarfarazi, Anne Child, Diliana Stoilova, Glen Brice, Trushna Desai, Ovidiu C. Trifan, Darmalingum Poinoosawmy, R. Pitts Crick The American Journal of Human Genetics Volume 62, Issue 3, Pages 641-652 (March 1998) DOI: 10.1086/301767 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree structure of the POAG-90 family, segregating for NTG. The order for a selected group of STRP markers presented in this kindred is given at the top left corner of the figure. Inherited haplotypes are shown below each subject. The solid bars indicate the affected-bearing haplotypes, and the open bars indicate the normal haplotypes. The uninformative portion of haplotype in individual IV:11 is shown with a thin black bar in the middle. Note that individual III:14 is recombinant for the centromeric marker D10S1664, whereas her daughter (IV:11) is recombinant for the telomeric marker D10S1729. The three gene carriers who have inherited the affected-bearing haplotype are shown with a dot inside their symbols (IV:3, IV:4, and IV: 19). The proband (III:1) is indicated with an arrow. The American Journal of Human Genetics 1998 62, 641-652DOI: (10.1086/301767) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Visual fields (Humphrey visual field analyzer) for the proband (III:1) in pedigree POAG-90. In the field for the left eye (OS; top), severe upper arcuate loss and marked lower arcuate loss are apparent. For the right eye (OD; bottom), both marked upper and lower arcuate loss are seen. Both visual fields are typical of POAG. Global indexes are as follows: MD = mean deviation; PSD = pattern SD; SF = short-term fluctuation; CPSD = corrected pattern SD, all for which probabilities (%) are given. The American Journal of Human Genetics 1998 62, 641-652DOI: (10.1086/301767) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Optic discs (Heidelberg retinal tomograph) and visual fields (Humphrey visual field analyzer) for the proband's youngest daughter (IV:2). A, Right visual field, showing nasal step with slight upper and lower arcuate depression of sensitivity. B, Left visual field, with marked upper and lower arcuate loss resulting in a ring scotoma. As in figure 2, the global indexes and their probabilities are given. Both optic discs are grossly abnormal when compared with an age-match group, with the left disc (B) being more affected than the right (A). The findings are typical of POAG, which is much more marked in the left eye. The American Journal of Human Genetics 1998 62, 641-652DOI: (10.1086/301767) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Effect of incomplete-penetrance rates on LOD scores of D10S1216 at θ=.00, when the three gene carriers were coded as (A) unknown or (B) at risk. For the latter, the arrow points to a Zmax value of 7.260 at an incomplete-penetrance rate of 18%. The American Journal of Human Genetics 1998 62, 641-652DOI: (10.1086/301767) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 5 Chromosomal location, linkage, and partial physical map of the GLC1E locus. On the far left part of this figure, the approximate location of this locus on p15-p14 is indicated. This is followed by a column showing the accumulative recombination fractions from the top of this chromosome. Next, the composite order of the STRP markers is based on the published linkage and radiation hybrids maps as well as the YAC contigs and physical mapping data. The STRP markers genotyped in the POAG-90 family are shown in boldface. The next column shows approximate locations of the STS and EST markers, based on the data obtained from the Whitehead Institute for Genome Research. The locations of genes and other transcripts in the next column are based on data obtained from both the Whitehead and Stanford radiation mapping data. A selective number of YACs covering the GLC1E candidate region is also shown. Note that YAC 809-F-9 maps to p15 and YACs 747-H-8 and 808-A-2 to p14. On the far right of this figure, the observed crossovers in two affected individuals (A), III:14 and IV:11, are shown with two solid-black bars. The last bar represents the crossover in the normal individual (N), III:23. The nonrecombinant portions of these three chromosomes are shown with hatched bars. For individual IV:11 (second black bar), the thin black bar indicates that the exact site of recombination between D10S552 and D10S189 is unknown. Similarly, the thin portion of the last bar, for normal individual III:23, indicates that the exact site of recombination between the two markers D10S1172 and D10S585 is unknown. The American Journal of Human Genetics 1998 62, 641-652DOI: (10.1086/301767) Copyright © 1998 The American Society of Human Genetics Terms and Conditions