SSCP analysis and sequencing chromatogram for the mutation insT 1689 after amplification from genomic DNA of the propositus.

(A) SSCP analysis. (B) Sequencing chromatogram for the mutation. The PCR product amplified from the genomic DNA of the propositus was cloned into the pCR® 2.1-TOPO vector (Invitrogen, Leek, The Netherlands). After propagation in E coli, 10 clones containing either of the amplified alleles were sequenced. (C) The normal allele. (D) The mutant allele. Arrows indicate the position of mutations.