Genetics and General Histology Overview

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Questions and Answers

What is the primary function of DNA?

  • To regulate cellular metabolism
  • To synthesize proteins directly
  • To store and transmit genetic information (correct)
  • To facilitate energy production in cells

Which of the following best describes a karyotype?

  • A method for sequencing DNA
  • A visual representation of an individual's chromosomes (correct)
  • The sequence of amino acids in a protein
  • A type of inherited genetic disorder

How many pairs of chromosomes are found in the human genome?

  • 20 pairs
  • 23 pairs (correct)
  • 30 pairs
  • 46 pairs

What are the building blocks of DNA called?

<p>Nucleotides (B)</p> Signup and view all the answers

What comprises the human genome?

<p>Around 20,000-25,000 genes (D)</p> Signup and view all the answers

What types of chromosomes are included in the 23 pairs of human chromosomes?

<p>Autosomes and sex chromosomes (C)</p> Signup and view all the answers

What is the role of histone proteins in chromosomes?

<p>To wrap and organize DNA into chromatin (B)</p> Signup and view all the answers

Why is genetics important in medicine?

<p>It assists in diagnosing and understanding genetic disorders (C)</p> Signup and view all the answers

What is the primary function of epithelial tissue?

<p>Covers body surfaces and forms glands. (B)</p> Signup and view all the answers

Which type of epithelium is characterized by having multiple layers of cells?

<p>Stratified Squamous Epithelium (B)</p> Signup and view all the answers

What staining technique is most widely used for viewing tissue sections?

<p>Haematoxylin and Eosin (H&amp;E) (C)</p> Signup and view all the answers

Which tissue type is primarily responsible for movement?

<p>Muscle Tissue (D)</p> Signup and view all the answers

Ciliated epithelial cells perform which of the following functions?

<p>Moving mucus and trapped particles (D)</p> Signup and view all the answers

What characterizes connective tissue?

<p>Provides structural support and binds tissues (D)</p> Signup and view all the answers

Which is NOT a function of epithelial tissue?

<p>Energy storage (C)</p> Signup and view all the answers

What is the main difference between simple and stratified epithelium?

<p>Simple epithelium consists of one layer of cells (D)</p> Signup and view all the answers

What defines a gene?

<p>A specific sequence of nucleotides that encodes a protein (A)</p> Signup and view all the answers

What inheritance pattern is exhibited by blood type AB?

<p>Codominance (D)</p> Signup and view all the answers

Which condition is classified as an autosomal recessive disorder?

<p>Cystic fibrosis (B)</p> Signup and view all the answers

What type of mutation causes a change in the DNA sequence without altering the amino acid sequence?

<p>Silent mutation (A)</p> Signup and view all the answers

What does the Law of Segregation state?

<p>Two alleles for a trait separate during gamete formation and reunite at fertilization (A)</p> Signup and view all the answers

Which type of cell is primarily responsible for the production of collagen in connective tissue?

<p>Fibroblasts (A)</p> Signup and view all the answers

Which type of tissue is responsible for covering body surfaces and lining internal cavities?

<p>Epithelial tissue (B)</p> Signup and view all the answers

Which type of epithelium is best suited for diffusion and filtration processes?

<p>Simple squamous epithelium (A)</p> Signup and view all the answers

Which characteristic best describes cardiac muscle?

<p>Striated and involuntary (D)</p> Signup and view all the answers

Which of the following is least likely to be a function of connective tissue?

<p>Secretion of hormones (A)</p> Signup and view all the answers

In the case of X-linked hemophilia, what is the probability that a son inherits the condition from a carrier mother?

<p>50% (A)</p> Signup and view all the answers

What type of cells are primarily responsible for collagen production in connective tissue?

<p>Fibroblasts (B)</p> Signup and view all the answers

What is the likelihood that a daughter of a carrier mother for hemophilia will have the disorder?

<p>0% (A)</p> Signup and view all the answers

How does smoking directly affect the structure of epithelial tissue in the respiratory tract?

<p>It damages ciliated epithelium. (C)</p> Signup and view all the answers

What are potential consequences of damage to ciliated epithelium in the respiratory tract due to smoking?

<p>Reduced ability to clear mucus (C)</p> Signup and view all the answers

Which of the following conditions is likely to result from damaged ciliated epithelium due to smoking?

<p>Chronic obstructive pulmonary disease (COPD) (B)</p> Signup and view all the answers

What type of genetic disorder requires only one copy of the mutant allele to express the disorder?

<p>Autosomal Dominant Disorder (D)</p> Signup and view all the answers

Which of the following is an example of an autosomal recessive disorder?

<p>Sickle Cell Anemia (A)</p> Signup and view all the answers

What is the primary consequence of mutations in critical tumor suppressor genes?

<p>Uncontrolled cell growth (C)</p> Signup and view all the answers

Which statement is true about X-linked disorders?

<p>Males have only one X chromosome, which increases their likelihood of expression. (B)</p> Signup and view all the answers

Histology is primarily concerned with which of the following?

<p>Studying the microscopic structure of tissues and organs (A)</p> Signup and view all the answers

What role does histology play in medical diagnostics?

<p>It helps identify pathological changes in tissues. (B)</p> Signup and view all the answers

Cystic fibrosis is caused by mutations in which gene?

<p>CFTR gene (A)</p> Signup and view all the answers

What characteristic defines Huntington's disease?

<p>Progressive neurodegeneration (D)</p> Signup and view all the answers

What is the defining characteristic of a dominant allele?

<p>It is expressed even if only one copy is present. (C)</p> Signup and view all the answers

Which statement accurately describes the relationship between genotype and phenotype?

<p>Phenotype is influenced by both genotype and environmental factors. (C)</p> Signup and view all the answers

What does Mendel's Law of Segregation state?

<p>Each individual inherits one allele from each parent. (A)</p> Signup and view all the answers

In a dihybrid cross, how many traits are being considered?

<p>Two traits (A)</p> Signup and view all the answers

What is an allele?

<p>A variant form of a gene. (B)</p> Signup and view all the answers

What is the phenotype associated with the genotype 'bb' for eye color?

<p>Blue eyes (C)</p> Signup and view all the answers

Which of the following is true under Mendel's Law of Independent Assortment?

<p>Different traits are inherited independently if located on different chromosomes. (D)</p> Signup and view all the answers

What genetic disorder is specifically mentioned as an example of abnormalities in chromosome number or structure?

<p>Trisomy 21 (A)</p> Signup and view all the answers

Flashcards

What is a gene?

A specific sequence of DNA that encodes a protein or functional RNA. They are the basic units of heredity, determining traits.

What is an allele?

A variant form of a gene. They are the different versions of a gene that can cause variations in a trait.

What is a dominant allele?

An allele that is expressed in the phenotype even if only one copy is present. It masks the recessive allele.

What is a recessive allele?

An allele that is only expressed when two copies are present. It is masked by the dominant allele.

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What is genotype?

The genetic makeup of an individual, determined by the specific alleles they carry.

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What is phenotype?

The observable physical or biochemical characteristics of an organism, resulting from the interaction of its genotype with the environment.

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What is Mendel's Law of Segregation?

States that each individual receives one allele for a trait from each parent, and these alleles separate during gamete formation.

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What is Mendel's Law of Independent Assortment?

States that genes for different traits are inherited independently of each other, as long as they are located on different chromosomes.

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What is Genetics?

The branch of biology that studies heredity and variations in organisms, focusing on how traits pass from parents to offspring.

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What are Genes?

The fundamental units of heredity that carry genetic information from parents to offspring.

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What is DNA?

The molecule that stores and transmits genetic information, composed of nucleotides with four nitrogenous bases: adenine, thymine, cytosine, and guanine.

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What are Chromosomes?

Chromosomes are structures in eukaryotic cells that tightly package DNA, forming chromatin.

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What is a Karyotype?

A visual representation of an individual's chromosomes arranged in pairs by size and shape, showing the number and arrangement of chromosomes.

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How many chromosomes do humans have?

Humans have 23 pairs of chromosomes, including 22 pairs of autosomes (non-sex chromosomes) and one pair of sex chromosomes (X and Y).

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What is the Human Genome?

The complete set of genetic instructions in an organism, consisting of approximately 3 billion base pairs of DNA organized into 23 pairs of chromosomes.

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Why is studying the human genome important?

The study of the human genome provides insights into genetic diversity, the basis of inherited traits, and the potential for personalized medicine.

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Mutations

Changes in the DNA sequence of genes that can alter their function. These alterations can be spontaneous or caused by environmental factors.

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Tumor Suppressor Genes

Genes that regulate cell growth and division, preventing uncontrolled proliferation. When mutated, they can lose their function, leading to cancer.

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Oncogenes

Genes that promote cell growth and division. When mutated, they can become overactive, leading to uncontrolled cell growth and cancer.

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Cystic Fibrosis

A genetic disorder characterized by the production of thick, sticky mucus that clogs the lungs and other organs.

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Sickle Cell Anemia

A genetic disorder that causes red blood cells to be sickle-shaped, leading to oxygen deprivation and pain.

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Huntington's Disease

A genetic disorder that causes progressive neurodegeneration, leading to movement problems, cognitive decline, and psychiatric issues.

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Haemophilia

An X-linked recessive disorder that affects blood clotting, leading to excessive bleeding.

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Epithelial Tissue

A type of tissue that covers body surfaces, lines cavities, and forms glands. It acts as a protective barrier and is involved in absorption, secretion, and sensation.

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Connective Tissue

A type of tissue that provides structural support, binds tissues together, and stores energy. It includes bone, cartilage, blood, and adipose tissue.

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Duchenne Muscular Dystrophy

A genetic disorder that primarily affects males, causing muscle weakness and progressive loss of muscle function.

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Muscle Tissue

A type of tissue responsible for movement and force generation. It includes skeletal, cardiac, and smooth muscle.

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Nervous Tissue

A type of tissue that transmits electrical impulses and processes information. It consists of neurons and supporting glial cells.

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Simple Epithelium

A single layer of epithelial cells.

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Stratified Epithelium

Multiple layers of epithelial cells.

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Ciliated Epithelial Cells

Epithelial cells with cilia that move mucus and trapped particles out of the airways.

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Goblet Cells

Mucus-secreting cells found in the lining of the intestines and respiratory tract.

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What are alleles?

A different form of a gene, leading to variations in traits. An individual receives one allele from each parent.

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What is a silent mutation?

A mutation that changes one base pair to another without changing the amino acid sequence. It has no effect on the protein.

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What is codominance?

The expression of both alleles in a heterozygote, resulting in a phenotype that combines both traits.

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What is incomplete dominance?

A condition where both alleles for a trait are expressed, but the resulting phenotype is a blend of the two.

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What is polygenic inheritance?

The condition when multiple genes contribute to a single trait, leading to continuous variation.

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What is epistasis?

The inheritance pattern where one gene's expression masks another gene, affecting a different trait.

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What is epithelial tissue?

This tissue covers body surfaces and lines internal cavities. Composed of tightly packed cells with little extracellular matrix.

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What are fibroblasts?

These cells are responsible for synthesizing extracellular matrix in connective tissues, contributing to its structural integrity.

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Why is simple squamous epithelium suited for diffusion and filtration?

Simple squamous epithelium is thin and composed of a single layer of flattened cells, allowing for efficient exchange of substances. This makes it ideal for diffusion and filtration.

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Why isn't hormone secretion a function of connective tissue?

Connective tissue provides support, protects organs, and stores energy reserves. However, it does not directly secrete hormones. That function is typically associated with glands.

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What is the probability of a son inheriting hemophilia from a carrier mother?

Hemophilia is an X-linked recessive disorder, meaning a mother carries the gene and can pass it on to her sons. A son has a 50% chance of inheriting the disorder.

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How does smoking affect the respiratory tract?

Cilia are hair-like structures in the respiratory tract that sweep mucus and debris out of the airways. Smoking damages these cilia, reducing their ability to clear the airways, increasing the risk of infections and lung diseases.

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Which cell type is NOT primarily responsible for producing extracellular matrix in connective tissue?

Adipocytes store fat, osteocytes are found in bone, and chondrocytes reside in cartilage. None of them play a primary role in synthesizing the extracellular matrix of connective tissue.

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Why is damaged ciliated epithelium in smokers a problem?

The epithelium lining the respiratory tract contains cilia that help move mucus and debris out of the airways. Smoking damages these cilia, making the airways more vulnerable to infections.

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Why is transitional epithelium NOT ideal for diffusion?

Transitional epithelium is found in organs that need to stretch, like the bladder. It's not the best for diffusion, as its layers of cells are thicker and more complex.

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Study Notes

Genetics and General Histology

  • Genetics is the study of heredity and variation in organisms, focusing on how traits are passed through genes. It encompasses DNA, genes, chromosomes, and gene expression/regulation.
  • Genetics is crucial for understanding biological processes and diseases. It helps in diagnosing, understanding, and developing therapies for inherited diseases, and informs fields like evolutionary biology, agriculture, and biotechnology.
  • The human genome has approximately 3 billion base pairs of DNA organized into 23 chromosome pairs. It contains roughly 20,000-25,000 genes that code for proteins and regulate processes. Studying the genome allows for insights into genetic diversity, inherited traits and personalized medicine.
  • DNA is a double-stranded helical molecule composed of nucleotides (phosphate, sugar, and a base). The sequence of bases encodes genetic information, directing development, functioning, and reproduction.
  • DNA is packaged into chromosomes, tightly wound around histone proteins. In humans, there are 23 pairs of chromosomes including 22 autosomal pairs and one sex chromosome pair (XX in females, XY in males).
  • A karyotype visually represents chromosomes, arranged by size and shape to detect abnormalities like trisomy 21 (Down syndrome).
  • Genes are specific DNA sequences encoding proteins or functional RNA molecules.
  • Alleles are variant forms of a gene. Dominant alleles are expressed even with one copy, while recessive alleles require two copies to be expressed.
  • Genotype refers to the genetic makeup (allele combination), while phenotype is the observable characteristics resulting from genotype-environment interaction.
  • Mendel's Laws of Inheritance (Segregation and Independent Assortment) describe how traits are inherited, derived from pea plant experiments.
  • Monohybrid and Dihybrid Crosses (involving one or two traits, respectively) demonstrate patterns of inheritance and can be visualized using Punnett squares.
  • Non-Mendelian inheritance patterns include incomplete dominance (intermediate phenotype) and codominance (both alleles fully expressed).

Multiple Alleles and Polygenic Inheritance

  • Multiple alleles means a gene has more than two variant forms. Examples include the ABO blood groups.
  • Polygenic inheritance involves multiple genes influencing a single trait, like skin color and height. This results in continuous variation.

Mutations, Genetic Disorders and Inheritance

  • Mutations are changes in DNA sequences, which can be spontaneous or environmental induced. Examples include point mutations (substitution, insertion, deletion) and larger-scale mutations. Certain mutations can cause harmful consequences, such as disease.
  • Genetic disorders are diseases resulting from mutations in genes or chromosomes, leading to abnormal cell functions. They can be autosomal dominant (one copy of mutated allele sufficient), autosomal recessive (two copies), or X-linked (inherited from X chromosome).
  • Examples of genetic disorders include cystic fibrosis, Huntington’s disease, and haemophilia.

Histology

  • Histology studies microscopic structure of tissues and organs to understand organization, their function, and their roles in the body.
  • Common techniques include preparing tissues for examination with a microscope (fixing, embedding, sectioning, staining).
  • Tissues in the body are organized as four basic tissue types:
    • Epithelial: protective barrier and involved in secretion. Can be simple or stratified and have specialized cells (ciliated, goblet).
    • Connective: binding, support, and protection. Includes various forms of dense, loose, and specialized connective tissues like blood.
    • Muscle: movement and force generation (skeletal, cardiac, smooth).
    • Nervous: communication and control (neurons and their supporting cells).

Microscopy

  • Light microscopy uses light to view stained tissue samples.
  • Electron microscopy uses electrons to provide high-resolution visualization of cellular ultrastructure.

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