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Figure 2 | BMC Medical Genetics

Figure 2

From: Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Figure 2

Novel PKD1 -splicing defect identified in family PK066. A. Diagram showing splicing defect resulted from a deletion of 31 bp in PKD1 . The deletion of 31 bp (g.33184_33214del31) involves the end of exon 19, splice-donor site and a part of intron 19, resulting in exon 19 skipping in the PKD1-RNA transcripts. B. Direct sequencing analysis of PKD1 -genomic DNA from the proband. The sequencing result shows the 31-nucleotide deletion including the two last nucleotides in exon 19 and the first twenty-nine nucleotides in adjacent intron 19 (g.33184_33214del31) as compared with the sequence of HUMPKD1GEN, GenBank Accession No. L39891. C. Direct detection of the 31-bp deletion (g.33184_33214del31) in the family PK066. The detection of 31-bp deletion (g.33184_33214del31) in members of the family PK066 was directly performed by genomic DNA amplification. Only the proband (II-3) in this family carries the deletion. M represents 100 bp ladder-DNA markers.

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