Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

Table 3 Chromosome 10q22.1 STR haplotypes linked to p.P240L of CDH23

* Meiotic phase and chromosomes in SH56-103 and SH97-211(SHJ71) and in most of the normal hearing controls could not be decisively assigned due to lack of parental DNA samples: In these cases, genotype contributions were compared among subjects, not chromosomes as described [23] (p > 0.001 by Fisher exact test). Haplotypes of normal controls were constructed in a conservative way where the haplotype closest to the haplotype 1 (see above) was preferentially assumed from STR genotyping data. **The number in parenthesis indicates a genotype contribution among chromosomes confirmed through checking parental samples (p > 0.001 by Fisher exact test).

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