Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma

Figure 2

① III4 (unaffected), no exon deletion. ② IV6 (affected), exon 2 deletion. ③ IV6 c.1056+1G > T in EXT1. ④ III4, no frame-shift mutation. ⑤ Allele-specific PCR: affected (II1, III3, IV6, III2, IV1, IV3), unaffected (III4, III1, IV2, V1, IV4), and normal control (N, C).