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. Author manuscript; available in PMC: 2006 Sep 28.
Published in final edited form as: Am J Med Genet A. 2003 Sep 1;121(3):235–239. doi: 10.1002/ajmg.a.20224

Fig. 2.

Fig. 2

A 12-bp deletion in PRPF31 causes autosomal dominant RP in a large Chinese kindred (RPYT). a: The pedigree of RPYT is shown at the top. Normal individuals are shown as clear circles (females) or squares (males), and affected individuals are shown as solid symbols. The individual with a possible diagnosis of RP (no. 12) is shown with a gray square. The deceased individuals are shown with “/”. Results of SSCP analysis are shown below the pedigree structure. The arrow indicates the abnormal SSCP band. The numbers beneath the SSCP image are unique identification codes for individual family members. Note that only affected individuals carry the abnormal SSCP band, and all normal family members do not carry it. b: Sequence analysis of normal (wild type) and abnormal (Δ12bp) SSCP conformers. The deletion spot is indicated. c: Δ12bp leads to deletion of four amino acids of PRPF31, H111K112F113I114. Amino acid H111 is evolutionally conserved from yeast, A. thaliana, Drosophila, to humans.