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Questions and Answers
What defines a gene in the context of genetics?
What defines a gene in the context of genetics?
How do genetic variations primarily arise in organisms?
How do genetic variations primarily arise in organisms?
What role does heredity play in organisms?
What role does heredity play in organisms?
What is the significance of genetic variation in evolution?
What is the significance of genetic variation in evolution?
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What is a common misconception about genetic information in organisms?
What is a common misconception about genetic information in organisms?
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Which type of genetic disorder is characterized by mutations in a single gene and follows specific inheritance patterns?
Which type of genetic disorder is characterized by mutations in a single gene and follows specific inheritance patterns?
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What term describes the inheritance of genetic disorders that can emerge sporadically or due to environmental triggers?
What term describes the inheritance of genetic disorders that can emerge sporadically or due to environmental triggers?
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What is the necessary condition for an autosomal dominant inheritance disorder to manifest in an individual?
What is the necessary condition for an autosomal dominant inheritance disorder to manifest in an individual?
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Which of the following best defines genetic diseases?
Which of the following best defines genetic diseases?
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Which of these types of genetic disorders does NOT involve alterations at a single gene level?
Which of these types of genetic disorders does NOT involve alterations at a single gene level?
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Study Notes
Genetics Overview
- Genetics studies how traits are inherited from parents to offspring through DNA sequence changes.
- A gene is a DNA segment that provides instructions to produce molecules essential for body functions.
- The genome is the complete genetic material present in almost all cells, housed within the nucleus of human, plant, and animal cells.
- Human genomes are largely identical across individuals, with minor variations responsible for differences.
Heredity
- Heredity is the transmission of traits from parents to offspring.
- Offspring inherit genetic characteristics from both parents, particularly pronounced during sexual reproduction.
- Genetic variation stems from DNA replication errors and is crucial for evolution, resulting from gene mutations and environmental interactions.
Key Genetics Terms
- Gene: The primary unit of inheritance composed of DNA that holds genetic information; inherited from both parents.
- Family histories can predict disease susceptibility due to shared genetic and environmental factors.
Genetic Disorders
- Genetic diseases arise from anomalies in genetic makeup, varying from minor mutations to significant chromosomal abnormalities.
- Genetic disorders can be inherited or result from acquired mutations.
Types of Genetic Disorders
- Single Gene Inheritance: Caused by mutations in one gene, with several inheritance patterns, including autosomal dominant (one defective gene can cause the condition).
- Chromosome Abnormalities: Issues during cell division leading to structural changes like deletion, duplication, inversion, and translocation; examples include Down syndrome, Edward's syndrome, and Klinefelter's syndrome.
- Mitochondrial Inheritance: Disorders from mutations in mitochondrial DNA, inherited only from mothers; examples include Leber's optic atrophy and MELAS.
Cancer
- Cancer is characterized by uncontrolled cell division and has a genetic component; mutations in DNA accumulate over time leading to malignancy.
- Inherited defects and external factors like pollution and lifestyle choices can escalate cancer risk.
- Cells typically undergo apoptosis when severely damaged; cancerous cells evade this and proliferate.
Tumors
- Tumors are abnormal cell masses and can be benign (non-cancerous, localized) or malignant (cancerous, capable of spreading).
- Malignant tumors metastasize, meaning cancer cells can invade other tissues and spread through the lymphatic system and bloodstream.
Cancer Classification
- Cancers are categorized as solid (e.g., breast, lung) or liquid (e.g., blood cancers) and further classified by tissue type:
- Carcinoma: Originates in epithelial tissues, comprising 80-90% of cancers; includes breast and prostate cancers.
- Sarcoma: Arises in connective tissue like bone and muscle; examples include osteosarcoma.
- Myeloma: Plasma cell cancers found in bone marrow; includes multiple myeloma.
- Leukemia: Blood cancers emerging from the bone marrow, characterized by abnormal blood cell proliferation.
- Lymphoma: Cancers of immune cells, including Hodgkin and non-Hodgkin lymphoma.
- Mixed Cancer: Arises from multiple tissue types.
Cancer Statistics
- Annually, significant new cases and deaths are reported for various cancer types, emphasizing the disease's impact on public health.
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