Question

Proband % deformed nuclei was 72, mother's was 18 and father's was 17; this information will help answer both parts.

a. Provide a genetic/cellular explanation for any differences in % deformed nuclei between the proband and the mother and the father. Remember to account for any difference between the mother and father, if there is any. You will have to think about this.

b. Give a detailed molecular explanation for the nuclei defects you visualized, based on your understanding of the HGPS.

c. Provide an explanation for why the mother and father have some deformed nuclei and why the proband has normal nuclei.

Answer 1

Answer:-

The term Proband refers to the first person or indvidual who is affected or diagnosed with genetic disorder and subjected to medical treatment. Proposita is known as female proband and proposito is known as male proband.

According to the given question, proband % deformed nuclei was 72, mother's was 18 and father's was 17.

(a) The cellular or genetic explanation for any differences in % deformed nuclei between the proband and the mother and the father is that the nuclei in proband which is distort originates from an indvidual with the syndrome called progeria. This syndrome results ageing in children. Also there is a mutation in LMNA gene which leads to DNA deterioration and hence, deformed nuclei. Mother has more deformed nuclei than father means father is younger than mother and mother is more aged than the father.

(b) HGPS refers to Hutchinson Gilford Progeria Syndrome is caused by single mutation in LMNA gene. This genetic disorder leads to deformed shape of the nuclei of an indvidual because specific C terminus of LMNA is affected and does not attached with the nuclear membrane.

(c) The mother and father have some deformed nuclei. The reason being is that they are only capable of passing genetic mutation( progeria) to other indvidual but not HGPS whereas, Proband has normal nuclei and the reason being is that proband can easily restore the damage ( addition, deletion etc.) that is being caused to the DNA by some mechanisms.

Hope the above answer comes up to your expectation. Please do come up with your feedback.