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. Author manuscript; available in PMC: 2014 Jun 1.
Published in final edited form as: Eur J Med Genet. 2013 Mar 19;56(6):292–296. doi: 10.1016/j.ejmg.2013.03.002

Figure 1.

Figure 1

Pedigree of patients with juvenile open angle glaucoma (JOAG) caused by a de novo MYOC Val251Ala mutation. Autosomal dominant inheritance of disease is shown in the three-generation pedigree (A). Affected members are represented with filled symbols, with the proband indicated by an arrow. and DNA samples were unavailable from family members (II-1, II-3 and III-2) are indicated by diagonal lines. Two grandparents (I-1 and I-2) in the first generation were disease free, but their daughter (II-2) and three grandchildren (III-1, III-2 and III-3) were all affected. Sequencing of MYOC revealed that all affected individuals in the pedigree (II-2, III-1 and III-3) carry a heterozygous T>C substitution, resulting in an amino acid change Val251Ala (B). Two available normal individuals (I-1 and I-2) in the pedigree have homozygous allele TT in the location (C). Haplotype analysis of 4 polymorphic SNPs within MYOC revealed that the T>C substitution is a de novo mutation (asteriskarrow head) arising in II-2 and transmitted in an autosomal dominant fashion (A). Chromosomal location of the mutation and rs numbers for the genotyped SNPs are indicated (A).