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. 2014 Jul 23;23(4):473–480. doi: 10.1038/ejhg.2014.136

Figure 1.

Figure 1

Segregation of CNGA3 alleles in family PKAB157. Filled and empty symbols represent affected and unaffected individuals, respectively. Double lines indicate consanguineous marriages. Chromosome 2q11.2-linked STR markers were used for haplotype analysis. The disease haplotype is boxed. The STR markers and physical map positions in megabases (Mb, February 2009 human reference sequence GRCh37, hg19) are shown to the right of the pedigree. The maximum two-point LOD scores for chromosome 2q11.2-linked STR markers are also given. The genotypes (wild-type, heterozygous and homozygous mutant) of the CNGA3 mutant allele are also shown for each of the participating family members.