Figure 3. Sequence chromatograms and
segregation analysis of the p.S205X GRK1 variant. A:
Sequence chromatogram of part of exon 1. Sequence of normal control
sample (left panel) and an affected individual IV-1 (right panel) with
the homozygous mutant sequence c.614C>A. B: StuI restriction
analysis of the 552 bp PCR products of exon 1 in all family members.
Fragments were resolved on an 1.5% agarose gel. Individuals with a
single fragment of 552 bp were identified as homozygous normal since
they did not contain the restriction site for StuI. Those with three
fragments (552 bp, 366 bp, and 186 bp) were heterozygous carriers of
the mutation, and those with two fragments (366 bp and 186 bp) carried
the mutation homozygously.