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.