Figure 1. Haplotype analysis of a family with autosomal dominant congenital cataract and microcornea

A: Pedigree and haplotype analysis of family showing segregation of four microsatellite markers on chromosome 22, listed in descending order from the centromere (D22S1174; CRYB2-CA; D22S258; D22S1144). Blackened symbols indicate clinically affected individuals, unblackened symbols represent unaffected relatives. The disease haplotype is indicated as a red bar with alleles D22S1174 (1), CRYB2-CA (5), D22S258 (2), and D22S1144 (1). B: Integrated genetic (Marshfield) and physical (UCSC) order of microsatellite markers across the β-crystallin gene cluster in the chromosomal regions 22q11.2-q12.2 (arrows indicate direction of transcription). Two-point LOD scores (Z) at θ=0 for linkage between cataract with microcornea phenotype and markers are given. The asterisk indicates the position of CRYB2-CA (X62390) which is an intragenic marker of the CRYBB2 gene positioned in intron 3. C: Clinical photograph of individual II-6, aged 39, showing microcornea with a horizontal corneal diameter equal to 9 mm. The eye is aphakic following cataract surgery in infancy with opaque capsular remnants in the periphery of the pupillary aperture.