Figure 3 | European Journal of Human Genetics

Figure 3

From: Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic

Figure 3

Expression of ephrin-B1 gene (EFNB1) transcripts in primary patient fibroblasts harbouring heterozygous premature termination codon (PTC) mutations. (a) Analysis of splice site mutation c.407-2>T and frameshift mutation c.377_384delTCAAGAAG. (b) Analysis of frameshift mutation c.614_615delCT. Genomic mutations were verified by PCR and restriction enzyme cleavage (G-PCR). The X-inactivation status in fibroblast cultures was determined by human androgen receptor X-inactivation (HUMAR) assay. Wild-type and mutant EFNB1 transcripts were determined by RT-PCR followed by restriction enzyme cleavage. DNA and RNA from the patients (lanes p), their fathers (lanes f), mothers (lanes m) or controls (lanes c) were analysed. Wild-type alleles are indicated by open arrows, mutant alleles are indicated by filled arrow heads. Size markers are shown in lanes M (100 bp DNA ladder, Invitrogen) and PCRs without template DNA in lanes (-).

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