Figure 2 | European Journal of Human Genetics

Figure 2

From: A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Figure 2

(a) RT-PCR analysis of the c.12295-3T>A mutation. RT-PCR was performed on RNA extracted from nasal epithelial cells of subject D13 and an unrelated control individual, using primers located in exons 58 and 64 of USH2A. In subject D13, RT-PCR produced a shorter product of 1033 bp corresponding to skipping of USH2A exon 63 (partial sequence chromatogram of this transcript is shown in the box; the dashed line indicates the splice junction between exons 62 and 64). The other allele of subject D13 harbouring a c.12093C>A, p.(Tyr4031*) mutation did not amplify. Amplification on control template produced a band of 2550 bp, corresponding to wild-type sequence. (b) Partial sequence chromatogram of genomic DNA from subject D13 showing a heterozygous c.12093C>A variant in exon 62. Sequence analysis of the corresponding RT-PCR product (1033 bp, see above) revealed a normal sequence at c.12093; this implies that the c.12295-3T>A and c.12093C>A variants reside on different alleles. NTC stands for no template control.

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