Journal: Molecular Vision

Article Title: Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

doi:

Figure Lengend Snippet: Schematic representation of the PRPF31 region and of the deletions identified. The structure of the PRPF31 (green) and TFPT (red) genes is indicated (introns, lines; noncoding exons, light-blue boxes; coding exons, dark blue boxes). The deletions detected in families MOL0931 and TB228 are indicated by the black lines. Repeated DNA elements are indicated by boxes in color (SINE, short interspersed nuclear elements; LINE, long interspersed nuclear elements; LTR, long-terminal repeats; SAT, microsatellites). Results of real-time PCRs on the genomic DNA from members of the MOL0931 family are shown by the graphs at the bottom, indicating the presence of two DNA copies (+/+) or one DNA copy of the region investigated (+/−). Because of space constraints, only eight primer pairs of the 12 used are depicted in this image. TEL, telomere; CEN, centromere.

Article Snippet: Genomic DNA samples of MOL0931–1 and MOL0931–2 were tested with array-based comparative genomic hybridization (aCGH) targeted for PRPF31 at GeneDx (Gaithersburg, MD).

Techniques:

Journal: Molecular Vision

Article Title: Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

doi:

Figure Lengend Snippet: Sequences of the breakpoints. Electropherograms of the breakpoints of the two deletions. The red lines indicate the junction between DNA originating from intron 2 of TFPT (on the left) and DNA originating from intron 1 of PRPF31 (right).

Article Snippet: Genomic DNA samples of MOL0931–1 and MOL0931–2 were tested with array-based comparative genomic hybridization (aCGH) targeted for PRPF31 at GeneDx (Gaithersburg, MD).

Techniques:

Journal: Molecular Vision

Article Title: Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

doi:

Figure Lengend Snippet: Real-time PCR from lymphoblastoid cell lines from family MOL0931 and from controls. Relative PRPF31 expression in 13 controls, patients from family MOL0931 (931–1, 931–2, and 931–5), and individual 931–3 (unaffected carrier of the mutation) are shown. Error bars indicate standard deviations. The difference in gene expression between controls and patients is statistically significant (p = 1.3 × 10 −4 , by t test).

Article Snippet: Genomic DNA samples of MOL0931–1 and MOL0931–2 were tested with array-based comparative genomic hybridization (aCGH) targeted for PRPF31 at GeneDx (Gaithersburg, MD).

Techniques: Real-time Polymerase Chain Reaction, Expressing, Mutagenesis, Gene Expression