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. Author manuscript; available in PMC: 2010 Dec 1.
Published in final edited form as: J Med Genet. 2009 Jul 2;46(12):856–861. doi: 10.1136/jmg.2009.067892

Figure 2.

Figure 2

Discordant segregation of SLC26A4 linked short tandem repeat (STR) marker haplotypes with enlargement of the vestibular aqueduct (EVA). The haplotypes within each family are arbitrarily represented as A, B, C, or D—for example, an A haplotype in one family does not necessarily imply the same combination of genotypes in the A haplotype for another family. Families 133, 144, 213, and 219 were previously described by Pryor et al.7 Haplotypes are underlined when linked to a SLC26A4 sequence variant. p.V609G is a common polymorphism (dbSNP rs17154335). If p.R776C, c. -3-2A>G, p.L597S and c.-60A>G are considered non-pathogenic in trans with a wild type allele,19 20 22 all of these eight families are M0 families (tables 1 and 2).