Topic 1: introduction Flashcards
Front: What is genetics?
Back: The study of inheritance or the way traits are passed on from one generation to another.
Front: What is genomics? .
Back: The study of all genes in an organism and the interaction of those genes with each other and with the environment
Front: What is genomics?
Back: The study of all genes in an organism and the interaction of those genes with each other and with the environment.
Front: How different are our genomes and why does it matter?
Back: 0.1% different between individuals, which dictates different traits in humans. Certain similarities and trends are essential for proper development and to avoid diseases.
Front: What is medical genetics?
Back: The branch of medicine involved in the diagnosis and management of hereditary disorders, incorporating gene therapy, personalized medicine, and predictive medicine
Front: What is the goal of genetics?
Back: To show why some people get sick while others don’t, and diagnose/treat patients, important since genome has a role in 9 of the 10 major causes of death.
Front: What is the goal of genetics?
Back: To show why some people get sick while others don’t, and diagnose/treat patients, important since genome has a role in 9 of the 10 major causes of death.
Front: What are genetic disorders?
Back: Diseases caused by variations or mutations in genes. They can be caused by environmental exposure, aging, or can be hereditary. Most are multifactorial inheritance disorders.
Front: What are single gene disorders?
Back: Mutation in a single gene, possibly on one or both chromosomes. Examples: Sickle cell anemia, Cystic Fibrosis.
Front: What is sickle cell anemia?
Back: A single base change (A to T) in the DNA results in glutamic acid in the B-globin chain instead of valine.
Front: What is a gene mutation advantage (Sickle cell anemia)?
Back: Heterozygous gene mutation confers protection against malaria.
Front: What is a gene mutation disadvantage (Sickle cell anemia)?
Back: Homozygous gene mutation leads to susceptibility to malaria if exposed.
Front: What are chromosome disorders?
Back: Disorders caused by excess or deficiency of genes on chromosomes or structural changes within them. Example: Down’s syndrome.
Front: What is a multifactorial inheritance disorder?
Back: Combination of small variations in genes and often associated with the environment. Examples: Heart disease, cancers, behavioral disorders (e.g., mental illnesses), Alzheimer’s.
what are 3 categories of genetic disorders?
single gene, chromosomal, multifactorial
Front: What is the general approach for disease gene identification?
Back: Perform genetic studies (via linkage analysis) to identify the area in our genome (chromosomal localization and mapping) to find your candidate gene.
Front: What is the candidate gene approach in disease gene identification?
Back: Start with the disease, do functional studies, and find which genes control the phenotype to map and identify the gene mutation or abnormality.
Front: What is the genome scan approach in disease gene identification?
Back: Start with the disease, scan the whole genome for linkage or association to markers, identify the gene via fine mapping, and relate that to the function
Front: How can identified genes be used in diagnostics and treatments?
Back: Use identified genes for diagnostics, preventative medicine, pharmacogenomics, and therapeutic developments (e.g., gene therapy, drug therapy, RNA therapeutics).
Front: What is prenatal genetics used for?
Back: Used in high-risk couples or in the case of abnormal ultrasound results.
What is pediatric genetics used for?
Back: Used in cases of birth defects, developmental delays, dysplasia.
Front: What is adult genetics used for?
Back: Used in cases of cardiomyopathy, dementia, neurodegeneration, etc.
Front: What is cancer genetics used for?
Back: Used in breast/ovarian cancer, bowel cancer, endocrine tumors, and most other cancers.
Front: What is DNA fingerprinting used for in identification?
Back: Used in military/larger scale disasters (to identify remains), paternity tests, forensics, criminal investigations, DNA databases, etc.
Front: What does evolutionary genomics study?
Back: Studies genes that make us human and can be used to study brain function and capacities (neurogenomics).
Front: How does genetic testing work?
Back: Scan a patient’s DNA for mutated sequences (can be from any tissue sample such as blood), amplify the part of the gene with mutation via PCR, then sequence it.
Front: At what levels (in the context of human ages) is genetic testing done?
Back: Carrier screening, preimplantation genetics diagnosis (used in IVF before in vitro fertilization), prenatal diagnostic testing, newborn screening.
Front: How many genomes do humans have and where are they found?
Back: Two genomes; one found in our chromosomes and one found in the mitochondria, which is always inherited from the mother.
