Functional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation

Figure 5

Skewing of the X inactivation analysis. The HUMARA assay was performed on genomic DNA extracted from the heterozygous female patient (II:2) and her father’s (I:3) peripheral blood. The DNA was digested with and without a methylation-sensitive restriction enzyme (HpaII), amplified by PCR using FAM-labelled primers specific to the HUMARA locus, and analysed by capillary electrophoresis.