Sample 1 Answer

1. <pedigree appears here>

2. Dan, Phil’s sisters, David

3. It distorts the triple helices, making them bulge.

4. Other mutations in the same gene, or how many normal collage triple helices form in a

particular cell type.

5. Phil may suddenly develop a rupture at any time. He may be nonpenetrant and

therefore still pass the mutant gene to offspring.

6. Different family members have different symptoms.

Source: Pepin, Melanie et. Al. March 9, 2000. Clinical and genetic features of Ehlers-Danlos Syndrome, type IV, the vascular type. The New England Journal of Medicine, vol. 342. 673.