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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Exome sequencing identifies novel and known mutations in families with intellectual disability

Fig. 3

IL1RAPL1 deletion mapping performed in MRID165 family. A The cytogenetic location of deletion and deleted part of the gene is shown to highlight the strategy used for the confirmation of deletion. B Agarose gel shows the bands of products obtained with primers designed from deleted (above 2 kb) and intact (1.5 kb) regions of gene. Two affected male individuals MRID165-2 and MRID165-3 show a single band with primers designed from the deletion flanking region, but two healthy male individuals (MRID165-4, MRID165-5) show a single band of 1.5 kb with primers designed from the deleted region. Affected female individual MRID165-1 and her mother (MRID165-6) had both bands indicating heterozygous deletion on X chromosome. C Quantitative real time PCR analysis of IL1RAPL1 deleted region with multiple primers also confirmed the agarose gel findings. D Sanger sequencing results showing genomic co-ordinates (hg19) of the deleted region

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