Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
Figure 2
The haplotypes around c.211delC mutation of six families constructed using SNPs are shown.
Each column shows an affected allele. Each base is defined by pure segregation analysis in the family. Allele frequencies of SNPs are derived from HapMap JPT+CHB samples. Families 2, 5, 10, and 13 shared a large common region of about more than 1 Mb in their haplotypes (blue). Abbreviation: Fm, Family.