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Question 1: What percentage of the human genome is shared with that of chimpanzees?
Options: A) 82% B) 88% C) 95% D) 99%
Answer: D) 99%
Explanation: Ever since researchers sequenced the chimp genome in 2005, they have known that humans share ~99% of their DNA with chimpanzees, making them our closest living relative. In fact, there is a second species that is this closely genetically related to humans: bonobos. The ancestor of humans split with the common ancestor of bonobos and chimps between 4 and 7 million years ago in Africa. Recent research is going into finding out whether this last common ancestor between these 3 species looked and acted more like a bonobo, a chimpanzee, or something else.
Question 2: From the following diseases, select all monogenetic disorders (those which can be inherited based on a single gene).
Options: A) Sickle Cell Anaemia B) Rheumatoid Arthritis C) Alzheimer’s Disease D) Marfan Syndrome E) Fragile X Syndrome
Answers: A) Sickle Cell Anaemia D) Marfan Syndrome E) Fragile X Syndrome
Explanation:
Sickle cell anaemia
Sickle cell anaemia is a common inherited blood disorder that is most prevalent among Africans. It is caused by a mutation in the haemoglobin-ß gene, which causes haemoglobin molecules to stick to one another and form long, rod-like structures. Haemoglobin is an essential Oxygen-transport protein found in red blood cells. Red blood cells with normal haemoglobin are smooth and round and glide through blood vessels. In people with sickle cell disease, red blood cells become stiff and assuming a sickle shape, causing blockages and damaging vital organs and tissue. Blockages in blood vessels increase the risk of lung tissue damage, strokes and acute pain episodes. Sickle cell anaemia is inherited in an autosomal recessive manner.
When we think about genetic disease, it is interest to ask ourselves why and how the disease-marking alleles remain in a population. Evolutionary, it would make sense for these to be eliminated from a population, as they result in un-favourable traits. However, individuals who are carriers for the sickle cell gene have some protective advantage against malaria. As a result, the frequencies of sickle cell carriers are high in malaria-endemic areas.
Marfan Syndrome
Marfan Syndrome Marfan syndrome is a disease of the connective tissue caused by a mutation in the gene encoding an extracellular matrix protein called fibrillin. People with Marfan syndrome tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Marfan syndrome is inherited in an autosomal dominant manner.
Fragile X Syndrome
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning difficulties and cognitive impairment. Fragile X syndrome is caused by an expansion of over 200 CGG repeats on the FMR1 gene on the X chromosome. The inheritance pattern is X-linked dominant and the symptoms tend to be more severe for men suffering from it.
Question 3: What genetic characteristic is associated with Huntington's disease?
Options: A) CAG trinucleotide repeats B) Promoter hypermethylation
C) Chromosomal Translocation D) Genetic Imprinting
Answer: A) CAG trinucleotide repeats
Explanation: Huntington’s disease is a genetic disease that causes progressive degeneration of nerve cells in the brain. Most people develop symptoms of Huntington’s disease in their 30s or 40s, including functional impairment and cognitive and psychiatric disorders. After the onset of symptoms, individuals usually live about 15-20 years.
Huntington’s disease is caused by a faulty HTT gene, specifically by a sequence of 40-50 CAG trinucleotide repeats Healthy individuals have 27-35 CAG repeats in the HTT gene. The inheritance pattern of Huntington’s disease is autosomal dominant. A major problem with Huntington’s disease is that, by the time an individual experiences their first symptoms in adulthood, they may have already had children. If the parent is heterozygous for the disease, the children will then have a 50% probability of inheriting it. Advancements in the field of genetic testing will aim to prevent this in future years.
Sickle Cell Anaemia and Malaria
Marfan Syndrome Phenotype
Question 4: The genome editing technology, CRISPR, stands for:
Options:
A) Cas9-Regulated Incision for Supra-Phenotypic Regeneration
B) Clustered Regularly Interspaced Short Palindromic Repeats
C) Coding Region In Sperm Protein Revalidation
D) Chromosome Reduced Indicative Sickle Protein Release
Answer: B) Clustered Regularly Interspaced Short Palindromic Repeats
Explanation:
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is a family of DNA sequences that form part of the bacterial immune system against foreign genetic elements such as plasmids and phages. CRISPR, together with the nuclease Cas9, has been adapted to create a genome editing technology. Scientists are attempting to further develop CRISPR-Cas9, so that in the near future it could be used for gene therapy and as a powerful diagnostic tool.
Question 6: Which of the following is correct regarding blood types?
Options: A) The A allele is dominant over B and O, and B is dominant over O
B) The O allele is dominant over A and B, which are both recessive
C) The A and B alleles are dominant, the O allele is recessive
D) The B allele is dominant over O and A, and O is dominant over A
Answer: C) The A and B alleles are dominant, the O allele is recessive
Explanation:
Question 8: Gregor Mendel, known by many as the father of genetics, observed the inheritance patterns of what species?
Options: A) Rats B) Frogs C) Fruit Flies D) Peas
Answer: D) Peas
Explanation: Gregor Mendel was a Czech monk who performed cross-breeding experiments between different types of pea plants that he grew in his garden. In particular, he was determined to find an explanation to how pea plants inherited particular characteristics, namely plant height, colour, pod and seed shape, and flower position. He determined that, upon sexual reproduction, an offspring receives two sets of information, one from each parent, that each define one particular characteristic in appearance. He also concluded that some units of information were dominant above others. These sets of information are now known as alleles. Mendel's experimental findings set the scene for modern genetics, before anyone even knew what a gene was.
See Gallery for more information of Mendel's pea plant experiments.
Question 10: An organism's observable characteristics are known as its:
Options: A) Genotype B) Phenotype C) Gene Expression D) Allele
Answer: B) Phenotype
Question 5: Down's syndrome is caused by:
Options: A) A duplication of Chromosome 21 B) The deletion of Chromosome 21 C) A translocation between Chromosomes 21 and 8 D) The fusion between Chromosomes 8 and 21
Answer: A) A duplication of Chromosome 21
Explanation: Down's syndrome is a genetic disorder caused by the presence of an additional copy of chromosome 21, known as trisomy 21. Down's syndrome is not inherited, but rather it is caused by abnormal cell division during pregnancy. Down's syndrome patients have a distinct facial appearance, intellectual disability and developmental delays. The disease may also be associated with thyroid or heart conditions.
Question 7: A man and a woman, both heterozygous for Cystic Fibrosis, have a child. What is the probability that it will suffer from the genetic disease?
Options: A) 25% B) 50% C) 75% D) 100%
Answer: A) 25%
Explanation: Cystic Fibrosis is an autosomal recessive genetic condition that affects the cells that produce mucus. Consequently, this results in the production of thick and sticky mucus that can clog the lungs and obstruct the pancreas, which can be life-threatening. If each parents is heterozygous for cystic fibrosis, the inheritance pattern will be the following:
F = Recessive allele for cystic fibrosis
f = Dominant allele for 'normal' phenotype
Question 9: A red and a yellow lily are crossed to generate an orange lily. What genetic phenomenon this an example of?
Options: A) Co-dominance B) X-linked C) Recessive D) Polygenic Trait
Answer: A) Co-dominance
Explanation: Co-dominance is the relationship between two alleles, in which neither one can mask the expression of the other. This is a common characteristic of alleles that define the petal colours in flowers:
References:
1) Genome.gov. 2020. About Sickle Cell Disease. [online] Available at: <https://www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease> [Accessed 4 April 2020].
2) Biology | Mrs. McComas. 2020. Blood Typing - Notes. [online] Available at: <http://kmbiology.weebly.com/blood-typing---notes.html> [Accessed 4 April 2020].
3) Science | AAAS. 2020. Bonobos Join Chimps As Closest Human Relatives. [online] Available at: <https://www.sciencemag.org/news/2012/06/bonobos-join-chimps-closest-human-relatives> [Accessed 4 April 2020].
4) Genome.gov. 2020. Codominance. [online] Available at: <https://www.genome.gov/genetics-glossary/Codominance> [Accessed 4 April 2020].
5) En.wikipedia.org. 2020. CRISPR. [online] Available at: <https://en.wikipedia.org/wiki/CRISPR> [Accessed 4 April 2020].
6) Medicalnewstoday.com. 2020. Cystic Fibrosis: Symptoms, Causes, And Management. [online] Available at: <https://www.medicalnewstoday.com/articles/147960> [Accessed 4 April 2020].
7) Genetics Home Reference. 2020. Fragile X Syndrome. [online] Available at: <https://ghr.nlm.nih.gov/condition/fragile-x-syndrome#inheritance> [Accessed 4 April 2020].
8) Dnaftb.org. 2020. Mendel As The Father Of Genetics :: DNA From The Beginning. [online] Available at: <http://www.dnaftb.org/1/bio.html> [Accessed 4 April 2020].