Figure 3. Genotype analysis of the
FOXE3
mutation.
A: DNA sequencing chromatograms showing homozygote
mutant and carrier status for two individuals.
B:
Microsatellite analysis for one affected form of the Pakistani and
Madagascan families demonstrate segregation of different haplotypes in
the two families which exclude an ancestral origin for the mutation
p.Cys240X.
C: Schematic presentation of the FOXE3 protein.
Recessive inherited mutations (R) and dominant mutations (D) are
clearly denoted [
3-
6].