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Questions and Answers
What does the field of developmental genetics focus on?
What does the field of developmental genetics focus on?
- How genes control embryonic development (correct)
- The inheritance of genetic diseases
- The study of genetic variation within and among populations
- The application of genetic principles to medical practice
What is the key aspect of genomic surveillance in the context of the SARS-CoV-2 pandemic?
What is the key aspect of genomic surveillance in the context of the SARS-CoV-2 pandemic?
- Mapping disease genes
- Analyzing genetic variation within human populations
- Providing genetic counseling for those affected by the virus
- Studying the genome of the virus to inform the response (correct)
What is the main focus of medical genetics?
What is the main focus of medical genetics?
- The application of genetic principles to medical practice (correct)
- The study of how genes control embryonic development
- The study of genetic variation within and among populations
- The role of genetics in the development of mental disorders
What is the Toba Catastrophe theory related to?
What is the Toba Catastrophe theory related to?
What is the foundation of population genetics?
What is the foundation of population genetics?
What is the focus of psychiatric genetics?
What is the focus of psychiatric genetics?
What is the primary function of the plasma membrane?
What is the primary function of the plasma membrane?
What is the main function of ribosomes in a cell?
What is the main function of ribosomes in a cell?
What is the primary role of the cytoplasm in a cell?
What is the primary role of the cytoplasm in a cell?
What is the primary role of the nucleus in a cell?
What is the primary role of the nucleus in a cell?
What is the main difference between the rough and smooth endoplasmic reticulum (ER)?
What is the main difference between the rough and smooth endoplasmic reticulum (ER)?
What is the primary function of the nuclear membrane?
What is the primary function of the nuclear membrane?
What does variable expressivity refer to?
What does variable expressivity refer to?
Which condition is characterized by the substitution of valine for glutamic acid at position 6 of the normal hemoglobin molecule?
Which condition is characterized by the substitution of valine for glutamic acid at position 6 of the normal hemoglobin molecule?
What is the term used to describe a condition where a gene has multiple phenotypic effects?
What is the term used to describe a condition where a gene has multiple phenotypic effects?
What is an example of a phenocopy?
What is an example of a phenocopy?
What does incomplete penetrance refer to?
What does incomplete penetrance refer to?
What is the primary function of transfer RNA (tRNA) in the process of transcription?
What is the primary function of transfer RNA (tRNA) in the process of transcription?
Which of the following statements about the genetic code is incorrect?
Which of the following statements about the genetic code is incorrect?
In the process of DNA replication, what is the function of the leading strand?
In the process of DNA replication, what is the function of the leading strand?
Which of the following is a product of transcription?
Which of the following is a product of transcription?
What is the primary function of ribosomal RNA (rRNA) in the central dogma?
What is the primary function of ribosomal RNA (rRNA) in the central dogma?
Which of the following statements about achondroplasia is true?
Which of the following statements about achondroplasia is true?
What is the primary function of hemoglobin?
What is the primary function of hemoglobin?
Which of the following is an example of a point mutation?
Which of the following is an example of a point mutation?
What type of mutation involves expanding repeats of nitrogenous bases?
What type of mutation involves expanding repeats of nitrogenous bases?
Which syndrome is second to Down Syndrome in terms of genetic cause of mental retardation?
Which syndrome is second to Down Syndrome in terms of genetic cause of mental retardation?
What is the primary function of the p53 protein?
What is the primary function of the p53 protein?
Which of the following is a type of DNA repair mechanism?
Which of the following is a type of DNA repair mechanism?
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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
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