Fig. 1: Verification of TRPM1 deletion by PCR. | Human Genome Variation

Fig. 1: Verification of TRPM1 deletion by PCR.

From: A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

Fig. 1

a Schematic representation of the deleted region from exons 2–7 and the indication of regions amplified by PCR primer pairs in blue and red. Boxes represent exons, and dashed lines represent deleted regions (Table S1). b Three examples of copy number detection of TRPM1 exon 2–7 deletion by PCR amplification. The first box shows three PCRs in one individual with a homozygous deletion. Only primer pair 3 shows amplification. The second box shows an individual without a TRPM1 exon 2–7 deletion where primer pairs 1 and 2 amplify. The third box exhibits amplification of all three primer pairs, indicating a heterozygous deletion. The fourth box shows no template control

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