A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family

Figure 2

The splicing situation of mRNA in the WAS gene in the patient and his parents. (a) RT-PCR electrophoresis identification map. Lane 1: RT-PCR products from father. Lane 2: RT-PCR products from mother. Lane 3: RT-PCR products from the patient. M: DNA maker. (b) Schematic diagram of WAS gene and the patient’s four transcripts. Three abnormal spliced mRNAs of the patient. The red area is the missing sequences. (c, d) Alt-S1 Sanger sequencing. (e, f) Alt-S2 Sanger sequencing. (g) Alt-S3 Sanger sequencing. The location of the patient’s mutation is indicated by the arrow.

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