Anatomy and Physiology Lecture Exam 2

Genetics

Study of inheritance and human variation

Genes

DNA sequences that encode proteins

Meiosis

Process of genetic information passing from generation to generation

Exome

Protein-encoding portion of the genome

Gene Parts

Building blocks that combine to form genes

Genetic Information

Functions at biochemical, cell, tissue, individual, family, and population levels

Gene Expression

Response of genes to environmental influences

Chromosomes

Paired structures that carry genes

Karyotypes

Charts of chromosomes

Autosomes

Chromosomes 1-22, not determining sex

Sex Chromosomes

X and Y chromosomes, determining sex

Allele

Alternate form of a gene

Homozygous

Having a pair of identical alleles for a gene

Heterozygous

Having different alleles for a gene

Genotype

Combination of gene variants in an individual's cells

Phenotype

Appearance or traits of an individual

Dominant

Allele expressed when the other is not expressed

Recessive

Masked allele in a heterozygote

Punnett Squares

Depict modes of inheritance

Codominance

Both alleles in a heterozygote are expressed

Incomplete Dominance

Heterozygote has a phenotype intermediate between homozygotes

Polygenic Traits

Traits coded for by two or more genes

Pleiotropy

Gene product affects multiple biochemical reactions or organs

Chromosomal Inheritance

Inheritance patterns of genes on sex chromosomes

Sex Determination

Y chromosome switches on genes for male characteristics

Genes on Sex Chromosomes

Follow different inheritance patterns than autosomal genes

Penetrance

Degree to which a genotype is expressed

Expressivity

Degree to which a genotype is expressed in different individuals

Genetic Heterogeneity

Phenotype resulting from mutation in more than one gene

Sex-Limited Traits

Affect structures or functions seen in only one sex

Sex-Influenced Traits

Dominant in one sex, recessive in the other

Multifactorial Traits

Caused by genes and the environment

Polyploidy

Extra chromosome set

Aneuploidy

Extra or missing chromosome

Nondisjunction

Chromosome pair does not separate in meiosis

Prenatal Tests

Detect chromosome abnormalities

Ultrasound

Detects large-scale structural abnormalities

Maternal Serum Marker Tests

Indirectly detect trisomy

Chorionic Villus Sampling

Obtains and examines chorionic villus cells

Amniocentesis

Samples and examines fetal chromosomes

Cell-Free Fetal DNA Testing

Detects aneuploids from fetal DNA in maternal circulation

Genetic Tests

Diagnose single-gene diseases and identify gene variants

Genomics

Study of an individual organism's genetic information

Inherited Mutation

Transmitted from parents to offspring

De Novo Mutation

Occurs in a gamete or early in fetal development

Exome Sequencing

Reveals actionable and secondary findings

Gene Therapy

Treatment for genetic disease targeting genes

Metabolism

Reactions that build up and break down molecules

Anabolism

Builds molecules through dehydration synthesis

Catabolism

Breaks down molecules through hydrolysis

Enzyme

Protein that catalyzes metabolic reactions

Active Site

Region of an enzyme that binds to substrate

Metabolic Pathways

Sequences of enzyme-controlled reactions

Rate-Limiting Enzyme

Regulates a metabolic pathway

Cofactors

Chemical groups necessary for enzyme function

Coenzymes

Small organic molecules necessary for enzyme function

Denature

Disrupt the conformation of an enzyme

Energy

Capacity to produce change or do work

ATP

Primary energy-carrying molecule in a cell

Glycolysis

First step of glucose catabolism

Anaerobic Reactions

Generate lactic acid in the absence of oxygen

Aerobic Reactions

Include citric acid cycle and electron transport chain

Citric Acid Cycle

Decomposes molecules and forms ATP

Electron Transport Chain

Releases energy used to form ATP

DNA

Contains genetic information for protein synthesis

Gene

Sequence of nucleotide bases that codes for a protein

DNA Replication

Process of copying DNA molecules

Protein Synthesis

Genetic code translated into polypeptide molecules

Transcription

Process of RNA synthesis

Translation

Process of protein synthesis using mRNA template

Gene Expression Regulation

Control of which proteins are produced by cells

Mutation

Change in a DNA sequence

DNA Repair

Enzymes that correct some forms of DNA damage

Epithelial Tissues

Cover body surfaces and line organs

Intercellular Junctions

Specialized connections between cells

Histology

Microscopic study of tissues

Simple Squamous Epithelium

Single layer of thin, flattened cells

Simple Cuboidal Epithelium

Single layer of cube-shaped cells

Simple Columnar Epithelium

Elonagted cells with nuclei near the basement membrane

Pseudostratified Columnar Epithelium

Appears stratified due to nuclei at different levels

Stratified Squamous Epithelium

Many layers of flattened cells

Stratified Cuboidal Epithelium

Two or three layers of cube-shaped cells

Stratified Columnar Epithelium

Top layer of elongated cells, bottom layers of cube-shaped cells

Transitional Epithelium

Specialized to stretch

Glandular Epithelium

Composed of cells specialized to secrete substances

Areolar Connective Tissue

Forms thin membranes between organs

Adipose Tissue

Specialized form of loose connective tissue that stores fat

Reticular Connective Tissue

Consists of thin, branched reticular fibers

Dense Regular Connective Tissue

Composed of strong, collagen fibers that bind structures

Dense Irregular Connective Tissue

Thicker, randomly distributed collagen fibers

Elastic Connective Tissue

Mainly composed of elastic fibers

Cartilage

Supportive framework for various structures

Bone

Composed of mineral salts and collagen

Blood

Formed elements suspended in fluid

Serous Membranes

Line body cavities and cover organs

Mucous Membranes

Line cavities and tubes opening to the outside

Cutaneous Membrane

External body covering (skin)

Synovial Membranes

Line joints

Skeletal Muscle Tissue

Attached to bones and controlled by conscious effort

Smooth Muscle Tissue

In the walls of hollow internal organs