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Foundations of Physiology: Homeostasis and Control Mechanisms Study Guide

This guide covers the fundamental concepts and techniques used in gene mapping and recombinant DNA technology. It delves into linkage analysis, the statistical significance of LOD scores, the role of polymorphic markers in tracking genes through families, and the distinction between linkage and association. The guide also explores advanced methods like Genome-Wide Association Studies (GWAS) and the application of chromosomal anomalies in narrowing down gene locations. Finally, it discusses the c

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Foundations of Physiology and Membrane Transport

Introduction to Physiology Practice Questions

Practice questions regarding skeletal muscle insulin responsiveness, thermoregulatory responses, oxytocin release during labor, and prostaglandin synthesis.

  • skeletal muscle insulin responsiveness
  • fasting plasma glucose
  • thermoregulatory responses
  • hypothalamic set point
  • oxytocin release
  • uterine contractions
  • prostaglandin synthesis
  • renal blood flow

Biological Membranes and Transport Mechanisms

Relate membrane lipids and proteins to permeability and cell function through mechanisms including simple diffusion, channel-mediated diffusion, carrier-facilitated diffusion, and active transport.

  • Membrane fluidity
  • Membrane-cytoskeleton attachments
  • Hereditary spherocytosis
  • Fick's law
  • Simple diffusion
  • Channel-mediated diffusion
  • Carrier-facilitated diffusion
  • Primary active transport
  • Secondary active transport
  • Electrochemical gradient
  • GLUT transporters
  • Insulin signaling
  • Transport maximum
  • SGLT cotransport

Biological Membranes Practice Questions

Practice questions covering red cell membrane–cytoskeleton anchoring, pulmonary diffusion barriers, and glucose transport through red cells.

  • membrane–cytoskeleton anchoring
  • red cell deformation
  • pulmonary diffusion barrier
  • oxygen transfer rate
  • glucose transport
  • red-cell GLUT4 carriers

Introduction to Physiology and Homeostatic Control

This content explains how physiology connects molecular events to patient findings through homeostasis, negative feedback, positive feedback, and feedforward control.

  • Homeostasis
  • Negative feedback
  • Positive feedback
  • Feedforward control
  • Thermoregulation
  • Hypothalamic set point
  • Fever vs hyperthermia
  • Glucose regulation
  • Insulin secretion
  • Glucagon secretion
  • Oxytocin release
  • Renal prostaglandins
  • Cyclooxygenase (COX) action

Recombinant DNA and Genetic Linkage Mapping

Recombinant DNA Gene Linkage Analysis

An analysis of genes to determine which are linked longer in time.

  • linked genes
  • recombinant DNA

Recombinant DNA and Gene Mapping

  • Genome Wide Association Studies
  • GWAS
  • Microarrays
  • Single nucleotide polymorphisms
  • SNPs
  • Haplotypes
  • LOD score
  • Linkage equilibrium
  • Linkage disequilibrium
  • Association
  • Deletions
  • Translocations
  • Genomic libraries
  • Candidate genes
  • Positional identification
  • Functional identification

Mapping by Recombination and Linkage Analysis

  • Mapping by Recombination
  • Crossing over
  • Linked alleles
  • Single and Double Crossover
  • Physical Distance and Linkage
  • Centimorgans
  • Linkage Analysis
  • Linkage Phase
  • Pedigree analysis

LOD Scores and Gene Mapping Techniques

Discuss the relationship of a likelihood ratio and a LOD score, the importance of polymorphic DNA markers, and the use of deletions and translocations in gene mapping.

  • LOD score
  • likelihood ratio
  • gene mapping
  • polymorphic DNA markers
  • linkage equilibrium
  • linkage disequilibrium
  • association
  • deletions
  • translocations
  • genomic libraries
  • candidate gene approach
  • recombination frequency
  • centimorgans

Polymorphic Markers and Genetic Linkage

Highly polymorphic markers like microsatellites are used in gene mapping to determine linkage phase and analyze linkage disequilibrium.

  • Polymorphic markers
  • Microsatellites
  • Linkage phase
  • Uninformative mating
  • Linkage disequilibrium
  • Linkage equilibrium
  • Genetic association
  • Recombination distance
  • Gene mapping

Recombinant DNA and Genetic Mapping

Discuss the importance of recombination in linkage mapping of genes, the relationship of a likelihood ratio and a LOD score, and the composition of genomic and cDNA libraries.

  • Genetic mapping
  • Physical mapping
  • Haplotype
  • Recombination
  • Linkage phase
  • Markers
  • Recombination hot spot
  • Uninformative mating
  • Positional cloning
  • Functional cloning
  • CG islands
  • Artificial chromosomes
  • Exon trapping
  • LOD score
  • Linkage equilibrium
  • Linkage disequilibrium
  • Association
  • Candidate gene approach

Fluid Volumes, Electrolytes, and Cellular Ion Exchange

Body Fluids and Cellular Electrolyte Calculations

Practice questions involving total body water, plasma volume, albumin-corrected anion gap, serum osmolality, and sodium–potassium pump mechanisms.

  • total body water
  • plasma volume
  • extracellular fluid
  • albumin-corrected anion gap
  • serum osmolality
  • sodium–potassium pump
  • sodium–calcium exchange
  • sarcoplasmic reticulum calcium uptake

Body Fluids, Compartments, and Osmotic Balance

Body Fluids, Water, and Solutes

A lecture covering body fluid compartments, ions, osmotic balance, and the clinical relevance of osmosis and the serum anion gap.

  • Fluid compartments
  • Osmosis
  • Osmolality
  • Intracellular and extracellular ion
  • Na+/K+ pump
  • Calcium transporters
  • Electroneutrality
  • Serum anion gap
  • Total body water
  • Aquaporins
  • Plasma proteins
  • Oncotic pressure
  • Albumin

Recombinant DNA, Sequencing, and Molecular Analysis Techniques

Recombinant DNA and Gene Mapping

This material describes how restriction enzymes and cloning vectors can be used to produce recombinant DNA and explains various methods of DNA amplification, sequencing, and hybridization.

  • Restriction endonuclease
  • Restriction site
  • Blunt end
  • Sticky end
  • Vector
  • DNA ligase
  • Transformation
  • Transfection
  • DNA polymerase
  • Cloning
  • Linker
  • Hybridization
  • Gel electrophoresis
  • Southern blotting
  • Northern blotting
  • Western blotting
  • Dideoxy (Sanger) sequencing
  • Restriction fragment length polymorphism (RFLP) analysis
  • Allele specific oligonucleotide (ASO) probes
  • Polymerase Chain Reaction (PCR)

Recombinant DNA and Protein Expression

Methods for cloning DNA to make expression constructs, study gene function, and produce therapeutic proteins through transfection, transduction, and various expression systems.

  • Expression constructs
  • Gene function
  • Protein targeting
  • Promoter function
  • Eukaryotic expression constructs
  • Polyadenylation signal
  • Selectable marker
  • Transfection
  • Transient transfection
  • Stable transfection
  • Therapeutic proteins
  • Post-translational modifications
  • Expression systems
  • Retroviral transduction

DNA Amplification and Analysis Techniques

Techniques of DNA amplification and analysis including gel electrophoresis and the applications of Southern, Northern, and Western blotting.

  • Gel electrophoresis
  • Southern blot
  • Northern blot
  • Western blot
  • Dideoxy (Sanger) sequencing
  • Restriction fragment length polymorphism (RFLP) analysis
  • Allele specific oligonucleotide (ASO) probes
  • Polymerase Chain Reaction (PCR)
  • Variable number of tandem repeats (VNTRs)
  • SDS-PAGE
  • Genomic library
  • cDNA library
  • DNA fingerprinting

DNA Sequencing and Mutation Analysis

Methods of DNA amplification and sequencing including Sanger sequencing, RFLP analysis, and PCR are used to determine mutations and diagnose genetic diseases.

  • Mutation
  • Point mutation
  • Deletion
  • Insertion
  • DNA sequencing techniques
  • Sanger sequencing
  • Dideoxynucleotides
  • DNA polymerase
  • Capillary electrophoresis
  • Fluorescent dyes
  • CFTR Mutation
  • ΔF508
  • Restriction fragment length polymorphism (RFLP)
  • Southern blotting
  • Minisatellite DNA
  • DNA Fingerprinting
  • Polymerase Chain Reaction (PCR)
  • Allele specific oligonucleotide (ASO) probes
  • Variable number of tandem repeats (VNTRs)

DNA Amplification and Sequencing Methods

Methods of DNA amplification and sequencing used for the diagnosis of genetic and metabolic diseases include Polymerase Chain Reaction, Dideoxy sequencing, and Allele specific oligonucleotide probes.

  • Polymerase Chain Reaction (PCR)
  • Dideoxy (Sanger) sequencing
  • Restriction fragment length polymorphism (RFLP) analysis
  • Allele specific oligonucleotide (ASO) probes
  • Variable number of tandem repeats (VNTRs)
  • Microsatellites
  • RT-PCR (Reverse Transcriptase PCR)
  • Real Time PCR
  • DNA profiling
  • Taq DNA polymerase
  • Oligonucleotide primers
  • cDNA synthesis

Recombinant DNA and Molecular Techniques

This topic covers how restriction enzymes and cloning vectors produce recombinant DNA, methods of DNA amplification, sequencing, and hybridization, and the structural and functional differences between various molecular analysis tools.

  • Restriction enzymes
  • Cloning vectors
  • Recombinant DNA
  • Gel electrophoresis
  • Southern blot
  • Northern blot
  • Western blot
  • Dideoxy (Sanger) sequencing
  • Restriction fragment length polymorphism (RFLP) analysis
  • Allele specific oligonucleotide (ASO) probes
  • Polymerase Chain Reaction (PCR)
  • Variable number of tandem repeats (VNTRs)
  • Restriction endonuclease
  • Restriction site
  • Blunt end
  • Sticky end
  • DNA ligase
  • Transformation
  • Transfection
  • DNA polymerase

Molecular Analysis and DNA Identification Techniques

Identification of mRNA processing defects and DNA cloning using techniques such as Northern Blot, Southern Blot, and restriction enzymes.

  • mRNA processing
  • Northern Blot
  • Southern Blot
  • Restriction Digest
  • DNA cloning
  • Plasmid
  • Restriction enzyme
  • VNTR analysis
  • Polymerase Chain Reaction

Ion Gradients and Osmolality

Ion Movement and Body Fluid Osmolality

Ion movement follows the electrochemical gradient through permeable pathways, driven by the Na/K pump and secondary active transport processes.

  • Electrochemical gradient
  • Na/K pump
  • Primary active transport
  • Secondary active cotransport
  • Na/Ca exchanger
  • Calcium-induced calcium release
  • SERCA
  • Digoxin
  • Plasma osmolality
  • Osmolal gap

Body Fluids, Tonicity, and Fluid Shifts

Body Fluids, Osmolality, and Tonicity

This material explains how compartments, osmolality, and tonicity determine water transport, cell volume, and clinical fluid shifts.

  • Total body water compartments
  • Intracellular fluid (ICF)
  • Extracellular fluid (ECF)
  • Osmolality calculation
  • Anion gap
  • Osmolal gap
  • Tonicity and effective osmoles
  • Water transport mechanisms
  • Hydrostatic pressure
  • Colloid osmotic pressure
  • Isotonic, hypotonic, and hypertonic solutions
  • IV fluid distribution
  • Cell-volume adaptation
  • Clinical fluid patterns

Cell Adaptation and Body Fluid Dynamics

This content examines acute and chronic cell adaptation, brain response to tonicity changes, and mechanisms of edema and fluid shifts.

  • Acute and chronic cell adaptation
  • Hypertonic and hypotonic ECF
  • Organic osmolytes
  • Hyponatremia and hypernatremia
  • Osmotic demyelination
  • Brain cell swelling
  • Interstitial space
  • Lymphatic return
  • Capillary pressure
  • Plasma oncotic pressure
  • Hypoalbuminemia
  • Ascites
  • Tonicity and effective osmoles
  • Total body water distribution
  • Na/K pump
  • Na/Ca exchanger

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