Figure 1 | European Journal of Human Genetics

Figure 1

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

Figure 1

Expression of ephrin-B1 gene (EFNB1) transcripts in primary fibroblasts harbouring heterozygous missense mutations c.409A>G (p.T137A) and c.161C>T (p.P54L), respectively. Mutations were verified by genomic PCR followed by restriction enzyme cleavage (G-PCR). The X-inactivation status in fibroblast cultures was determined by human androgen receptor X-inactivation (HUMAR) assay. Expression of wild-type and mutant EFNB1 transcripts was determined by RT-PCR followed by restriction enzyme cleavage. DNA and RNA from the patients (lanes p), their fathers (lane f), mothers (lane m) or a control person (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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