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. 2007 Mar 22;117(4):931–943. doi: 10.1172/JCI29031

Figure 10. Expression of exon 3–skipped CADPS2 mRNA in 2 pedigrees that include autistic patients.

Figure 10

(A and B) Pedigree structures (left) and patterns of agarose gel electrophoresis on the RT-PCR analysis of CADPS2 mRNA expressed in the blood of each individual (right). (A) Male monozygotic autistic twins (TW1 [autistic patient a5 shown in Figure 9A] and TW2 [autistic patient]) and their family members. A single major band (661 bp) produced by normal alternative splicing is apparent in their father (F); mother (M); older brother (B); and younger sister (S). On the other hand, an additional, 381-bp band produced by exon 3–skipped alternative splicing was expressed in both monozygotic autistic twins. (B) The autistic patient (patient a4 shown in Figure 9A), who expressed only the exon 3–skipped shorter band, and the patient’s family members. Similar to the family members in A, a single major band of 661 bp is expressed in the father and mother. M, molecular weight marker of the 100-bp ladder (from 200 bp at the bottom to 1000 bp at the top).