29 Questions
What does the field of developmental genetics focus on?
How genes control embryonic development
What is the key aspect of genomic surveillance in the context of the SARS-CoV-2 pandemic?
Studying the genome of the virus to inform the response
What is the main focus of medical genetics?
The application of genetic principles to medical practice
What is the Toba Catastrophe theory related to?
The drastic reduction of the human population due to a super volcano eruption
What is the foundation of population genetics?
The Hardy-Weinberg Law
What is the focus of psychiatric genetics?
The role of genetics in the development of mental disorders
What is the primary function of the plasma membrane?
To control the movement of materials in and out of the cell
What is the main function of ribosomes in a cell?
To synthesize proteins
What is the primary role of the cytoplasm in a cell?
To facilitate the movement of organelles and other cellular components
What is the primary role of the nucleus in a cell?
To store and control the genetic information of the cell
What is the main difference between the rough and smooth endoplasmic reticulum (ER)?
The rough ER has ribosomes attached to it, while the smooth ER does not
What is the primary function of the nuclear membrane?
To control what goes in and out of the nucleus
What does variable expressivity refer to?
Individuals with a particular gene showing unidentical phenotypes
Which condition is characterized by the substitution of valine for glutamic acid at position 6 of the normal hemoglobin molecule?
Sickle-cell anemia
What is the term used to describe a condition where a gene has multiple phenotypic effects?
Pleiotropy
What is an example of a phenocopy?
An environmental factor mimicking a genetic effect
What does incomplete penetrance refer to?
An individual may or may not show the expected phenotype associated with a particular gene
What is the primary function of transfer RNA (tRNA) in the process of transcription?
To chemically link with a particular amino acid and base-pair with a codon in mRNA
Which of the following statements about the genetic code is incorrect?
There are multiple initiation codons for translation.
In the process of DNA replication, what is the function of the leading strand?
It works in the 3' to 5' direction.
Which of the following is a product of transcription?
Messenger RNA (mRNA)
What is the primary function of ribosomal RNA (rRNA) in the central dogma?
To form ribosomes
Which of the following statements about achondroplasia is true?
It is caused by a spontaneous mutation in the majority of cases.
What is the primary function of hemoglobin?
To carry oxygen to cells throughout the body
Which of the following is an example of a point mutation?
Sickle cell anemia
What type of mutation involves expanding repeats of nitrogenous bases?
Duplication mutation
Which syndrome is second to Down Syndrome in terms of genetic cause of mental retardation?
Fragile X syndrome
What is the primary function of the p53 protein?
To determine whether DNA is repaired or the cell dies
Which of the following is a type of DNA repair mechanism?
Both excision repair and mismatch repair
Study Notes
Genetic Control of Systems and Cell Cycle
- Genetics is the study of heredity and genetic variation among organisms, explaining organismal form and function in terms of its relation to chromosomes and cellular proteins.
Cell Structure and Function
- Plasma membrane: a protective, semi-permeable layer that controls what enters and exits the cell, providing transport and protection.
- Cytoplasm: a watery medium containing the cell's working parts (organelles), facilitating cyclosis and transport.
- Ribosomes: small grains where proteins are synthesized.
- Nucleus: contains DNA with genetic information, stored in chromosomes (23 pairs or 46 total in each cell nucleus).
- Nuclear membrane: surrounds the nucleus, controlling what enters and exits.
- Rough Endoplasmic Reticulum (RER): a series of folded membrane pathways with ribosomes, synthesizing new proteins and membranes.
- Smooth Endoplasmic Reticulum (SER): forms containers (transport vesicles) for moving things inside the cell.
Genetic Disorders
- Beta Thalassemia: a blood disorder reducing hemoglobin production, leading to oxygen deficiency in the body.
- Sickle Cell Anemia: an example of a point missense mutation.
- Point Mutation: a change in a single DNA base (transition or transversion).
- Duplication Mutation: expanding repeats of nitrogenous bases.
DNA Repair and Chromosomes
- Types of DNA Repair:
- Excision Repair: correcting DNA sequences by replacing nucleotides and removing errors.
- Mismatch Repair: enzymes excise "mismatched" bases for replacement.
- p53 controls DNA repair and cell salvage or death.
- DNA Repair Disorders: increased susceptibility to cancer due to chromosome breakage.
Developmental Genetics
- Studies how genes control embryonic development.
- Conservation of genes controlling development across evolution.
- Progeria (Hutchinson-Gilford Syndrome): a case of premature aging.
Genomics and Medical Genetics
- Genomics: the study of the entire gene set (genome) using bioinformatics.
- Medical Genetics: applying genetic principles to medical practice, including inheritance, disease gene mapping, diagnosis, treatment, and counseling.
Population Genetics
- Studies genetic variation within and among populations, and evolutionary factors explaining this variation.
- Founded on the Hardy-Weinberg Law, maintaining genetic equilibrium.
Psychiatric Genetics
- Examines the genetic role in mental disorders (e.g., alcoholism, schizophrenia, bipolar disorder, autism).
Gene Expression and Regulation
- Constant Expressivity: identical phenotypes in individuals with a particular gene.
- Variable Expressivity: unidentical phenotypes in individuals with a particular gene.
- Penetrance: the probability of a gene's effect on a phenotype.
- Pleiotropy: one gene affecting multiple phenotypes.
Transcription and Translation
- Initiation of transcription
- Elongation of RNA strand
- Termination of transcription (in the presence of a terminator sequence)
- Transcription products: mRNA, tRNA, and rRNA
- Central Dogma: replication, transcription, and translation processes
Test your knowledge on developmental genetics and genomics, including the study of how genes control embryonic development and genome sequencing using bioinformatics. Explore topics like gene conservation in evolution and diseases such as Progeria (Hutchinson-Gilford Syndrome).
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
