Question

Part 6. Data Analysis (15 points). Below you have information regarding three different diseases. Evaluate the information given in each paragraph, discuss: 1) Is this a single gene inheritance or multifactorial disease? Swere a strong genetic or environmental cause to the development of this both genetic and environmental causes are implicated, you have to indicate e n them separately. ntal cause to the development of this disease? If use the information given in the paragraph to defend your answer. This can be done by underlying the sentence followed by brief explanation in the blank space. a. in Western populations, the cumulative female breast cancer incidence is 1 in 200 at years, 1 in 50 at 50 years, and 1 in 10 by 70 years. If patients have a first-degree relative whom breast cancer developed after 55 vears, they have a 1.6 relative risk for breast cancer, whereas the relative risk increases to 2.3 if the breast cancer developed in the family member before 55 years and to 3.8 if it developed before 45 years. b. Age related macular degeneration shows concordance in monozygotic twins of 37% and 19% concordance in dizygotic twins. First-degree relatives of patients are at a 4.2-fold greater risk for disease compared with the general population. c. Severe congenital deafness is caused by loss-of-function mutations in GJB2. Two carrier patients have one chance in four with each pregnancy of having a child with congenital deafness.

Answer 1

1.

a. The female breast cancer incidence can be considered as a multifactorial disease. The studies conducted in the Western population which has shown an increase in the number of people got affected. As time progress the cumulative incidence is getting increased, which happens due to the contribution of various other living conditions along with the genetic factors.

b. Age-related muscular degeneration is a disease that is a multifactorial disease attributed to both genetic and environmental factors. Even though the gene is one of the factors which contribute to age-related muscular degeneration, the major impact is due to environmental factors.

c.Severe congenital deafness is a single gene disease as it is caused by the loss-of-function mutations in GJB2.