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. Author manuscript; available in PMC: 2013 Apr 1.
Published in final edited form as: J Hum Genet. 2012 Jun 21;57(10):633–637. doi: 10.1038/jhg.2012.79

Figure 1.

Figure 1

USH1K families PKDF231 and PKDF608 and their representative audiograms. (a) Chromosome 10 haplotypes in family PKDF231. Filled symbols represent deaf individuals. The USH1J-linked haplotype is boxed. The STR markers and physical map positions in megabases (Mb, February 2009 human reference sequence GRCh37, hg19) are shown on the left of the pedigree. Haplotype analysis of PKDF231 shows a linkage region of 20.20 Mb delimited by markers D10S1780 (35.89 Mb) and D10S546 (56.09 Mb). Affected individuals V:2, V:3, V:4, V:5 and V:7 provided distal meiotic breakpoint at D10S546 (56.09 Mb), while the unaffected individual V:6 provided the proximal recombination at D10S1780 (35.89 Mb). In family PKDF608 affected individual V:18 provided the proximal meiotic breakpoint at marker D10S1780 (35.89 Mb). The distal breakpoint at marker D10S1652 (64.31 Mb) was provided by affected individual V:29 (data not shown). (b) Pure tone air and bone conduction thresholds for family PKDF231 V:7 (26 yo male), and family PKDF608 V:20 (45 yo male) revealed profound, bilateral, sensorineural hearing loss. Right ear air conduction: O; Left ear air conduction: X; Right ear bone conduction: >; Left ear bone conduction: <; ↓ indicates the threshold level beyond the measurable range.