Fig. 2

a Location of p.P240L of CDH23 and 4 STR markers linked to the p.P240L mutation on chromosome 10q22.1. Four STR makers were located in the flanking regions of the CDH23 gene. The D10S1650 and D10S1694 were previously reported STR markers to be hypervariable and informative. b Pedigrees showing the segregation of the p.P240L mutation and the four STR marker haplotypes. Haplotypes for STR markers linked to p.P240L from five probands (black arrow) are indicated in bold in either open or shaded boxes). A single haplotype for four STR markers (D10S584, D10S1650, D10S606, and D10S1694) is definitely shared by four alleles linked to p.P240L (shaded box) including one allele from a postlingual-hearing-loss adult (SB116-208), indicative of a very strong founder allele in Koreans. The single common haplotype can be potentially assigned to two of three alleles (open box) carrying p.P240L from two subjects (SB56-103 and SH97-211. Definite haplotypes could be assigned based on information from parental samples or affected siblings in SH164-359, SH59-133, and SB116-208. Despite a lack of parental or sibling samples, a most-likely probable haplotype could be assigned based on the haplotypes of other subjects carrying p.P240L in SB56-103 and SH97-211.