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A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22  Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston,

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Presentation on theme: "A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22  Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston,"— Presentation transcript:

1 A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22 
Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston, Aubin Balmer, Daniel F. Schorderet, Andrei Verner, Thomas J. Hudson, Francis L. Munier  The American Journal of Human Genetics  Volume 68, Issue 3, Pages (March 2001) DOI: /318798 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Genealogy and summarized haplotype showing the most informative markers. All spouses were examined and found to be normal. Blackened symbols indicate clinically affected individuals; unblackened symbols represent unaffected relatives. Unblackened symbols containing an “N” indicate relatives ⩾30 years old who were examined but who did not show signs of the disease; empty unblackened symbols indicate unaffected relatives who are ≤30 years old; slashes indicate deceased individuals. The hatched boxes indicate the affected haplotype, whereas the unhatched boxes indicate the unaffected haplotype. “XX” indicates the beginning and end of the disease-gene interval. “?” indicates the genotype was not available. The American Journal of Human Genetics  , DOI: ( /318798) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Drawing of the ARPC lens opacity. Top, Individual III:15, at age 20 years, showing pulverulent lamellar and cortical opacity. Bottom, Individual III:5, at age 47 years, showing additional nuclear and posterior subcapsular changes. The American Journal of Human Genetics  , DOI: ( /318798) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

4 Figure 3 SIMWALK2 analysis of markers at the 9q13-q22 locus. Simulated location scores for ARPC vs. chromosome 9 markers. The maximum log10 location score was 4.7, with D9S768. The 14-cM disease interval, as defined by haplotype analysis, was between D9S1123 and D9S257. The American Journal of Human Genetics  , DOI: ( /318798) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

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