Results: 5

1.
Figure 1

Figure 1. From: De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome.

Pedigree of proband. Black symbol indicates Alpers syndrome. WT = wild-type.

Sherine S. L. Chan, et al. Mitochondrion. ;9(5):340-345.
2.
Figure 3

Figure 3. From: De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome.

Splice sites as predicted by NetGene2 server, which produces neural network prediction of splice sites in human DNA (http://www.cbs.dtu.dk/services/NetGene2/) (Brunak et al., 1991; Hebsgaard et al., 1996). (A) Wild-type POLG sequence. (B)POLG sequence containing the c2157+5_+6 gc>ag mutation.

Sherine S. L. Chan, et al. Mitochondrion. ;9(5):340-345.
3.
Figure 5

Figure 5. From: De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome.

Sequence analysis of genomic DNA and fully-spliced mRNA fragments. (A) Fully-spliced message from fibroblasts (direct sequencing after amplification from cDNA) showed that most transcripts contain the A467T mutation. (B) Sequencing of individual clones revealed both populations, with the A467T allele predominating.

Sherine S. L. Chan, et al. Mitochondrion. ;9(5):340-345.
4.
Figure 2

Figure 2. From: De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome.

Genomic DNA sequence of exon 12 - exon 14 from the POLG allele containing the c.2157+5_+6 gc>ag mutation. This alters a ‘gc’ to ‘ag’ at the 5th and 6th position 3' of the exon 12 - intron 12 splice junction.

Sherine S. L. Chan, et al. Mitochondrion. ;9(5):340-345.
5.
Figure 4

Figure 4. From: De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome.

Sequence analysis of individual clones from cDNA spanning exons 11 – 14 reveals an inclusion of part of intron 12 in the final fully-spliced transcript. The extra 30 nucleotide insert contains an in-frame PTC at nucleotides 28–30 just before the alternative splice site.

Sherine S. L. Chan, et al. Mitochondrion. ;9(5):340-345.

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