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Figure 3 | BMC Genetics

Figure 3

From: Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Figure 3

Real-Time Fluorescent PCR Gene Dosage Test. Segregation of the deletion of exons 7–8 in pedigree OA1-1 was demonstrated by quantitative screening using the Light Cycler™ technology. Results of dosage of the DMD-exon 4 (reference locus) and OA1-exon 8 (test locus) are shown on the histogram (white bars and grey bars, respectively). Each DNA sample was run in quadruplicate. Errors bars indicate standard deviation. Mean values of dosages and ratios [OA1-exon 8 (test) DMD-exon 4] are given in the Table. Lane 1, normal control female; lane 2, normal male; lane 4, obligate carrier of the exons 7–8 deletion (ratio test/ref of 0.56). Lanes 3 and 5, females IV4 and IV8 (with undefined status initially) showing a heterozygous deletion of OA1-exon 8 indicated by ratios of approximately 0.5.

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BMC Genomic Data

ISSN: 2730-6844

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