Figure 1. Pedigree and haplotypes: sequence changes of family 83002. (The DNA sample for I:1 was not available.)
A: Haplotypes of the
CRB1 region of family 83002 showing the
CRB1 c.3221T>C and c.2677–2A>C mutations and surrounding microsatellite markers included in
Table 1. The risk haplotype is shown in black and green.
B,
C: Electropherograms demonstrate sequences in the regions with the
CRB1 c.3221T>C and c.2677–2A>C mutations in individuals I:2, II:1, II:2, II:3, and a normal control.
D: Electropherograms show the c.938C>A mutation in
SPATA7 of individuals I:2 and II:1.