Delima, Patricia Grace Y.

BSMT 2B

Read Chapters 4 and 5.

1. Choose an autosomal recessive disease and use Online Mendelian Inheritance in Man
(www.omim.org) to confirm that it is autosomal recessive. Select and take not its genetic
information.

SICKLE CELL ANEMIA

https://omim.org/entry/603903?search=sickle%20cell%20anemia&highlight=%28anaemia%
7Canemia%29%20cell%20sickle

2. Watch the film about Life According to Sam (progeria; HTTP://lifeaccordingtosam.com)

Discuss how a recessive disease affects families.

As I was listening to Sam talk I was mesmerized how he sees life despite his
condition. Many of us take for granted every moment of our life, we see life as very crucial
to live even though we are complete and can walk, talk, and live life normally. But as for the
condition of Sam which is a Progeria, it is a kind of condition that rapidly ages the body so
much faster than the rest of us. This disease is an autosomal recessive progeroid syndrome
caused by homozygous or compound heterozygous mutations in the RECQL2 gene. By
definition an autosomal recessive inheritance is that the affected individual has parents
who are affected or are carriers. The offspring will have a 50% chance to inherit the disease
which certainly affects the rest of the generation of Families.

Even though Sam’s parents are normal one of them may have the recessive gene of
this progeria. Considering Mendel’s law about the mode of inheritance. They are either
carriers or affected in the case of his both parents one of them may be carrier of the said
disease. Which accounts to the idea that Sam was suffering from progeria.

3. Gregor Mendel used peas as a model organism. Explain why a species as different from
us as a plant can help understand heredity.

A plant is an organism the same as a human. An organism can be defined as a living

thing that has an organized structure, can react to stimuli, is able to reproduce, grow, adapt,
and maintain homeostasis. This idea signifies that we as humans and plants are almost
similar to each other because we have common characteristics. It then arose from the idea
of Mendel to use a plant, specifically a Peas, for probing the heredity. He considered peas
because they are easy to grow, develop quickly, and have many traits that take one of two
easily distinguishable forms. Considering his career Gregor Mendel was an Austrian
botanist where he specialized in the study of plants. Which led him to the idea of studying
heredity using plants, where he puts into his passion and love in discovering ideas and now
he became the father of Genetics.

4. Draw a pedigree of your family.

Biology Online, (2020). Organism. Retrieved from.

https://www.biologyonline.com/dictionary/organism