Human Genetics Final

Gene

The basic structural and functional unit of genetics 

Allele

One possible alternative of a gene

Nucleotide

Basic building block of DNA and RNA

Chromosome

Structure of Nucleic Acids and Proteins that contain genetic information

Amino Acid

Building Block for proteins

Protein

Polymers made of Amino Acids

Transcription

Transfer of genetic information

Translation

Conversion of genetic information

Mitosis

A cell replicating itself and dividing in half

Meiosis

2 cells combining to make a new one

Genotype

Specific genetic information

Phenotype

How genetic information is presented

Homozygous

Having 2 identical alleles

Heterozygous

Having 2 different alleles

Genetic mechanisms that can increase diversity

Mutation, Genetic Drift, Allele Frequency

Beneficence

Commitment to do good and promote well being

Non-maleficence

Commitment to avoid or minimize harm

Autonomy

A commitment to respect a person’s right to make their own choices

Justice

commitment to fairness and equitability

Veracity

commitment to truth telling

Fidelity

commitment to promise keeping

Genomics

The study of the organization, function, and evolution of genomes

Bioinformatics

Genomes sorted into a database

IVF

in vitro fertilization, taking an egg and fertilizing it outside of a uterus

Preimplantation genetic diagnosis (PGD)

testing the genetic information of a fetus before implanting it into a uterus

How is gene therapy done

By transferring cloned genes into somatic cells, it could cause cancer, allergic reactions or damage to organs

B cells

Cells in bone marrow and regulate antibodies

Antibody

proteins that bind to foreign molecules and deactivate them

Antigen

molecules that initiate antibody production

Major Histocompatibility Complex (MHC)

Genes on chromosome 6 that encode recognition molecules, prevent immune system from attacking itself

Effector cells

type of cell that responds to stimulus

Memory Cells

cells that recognize illnesses you have had before

Genetic Equilibrium

condition where a gene pool is not changing in frequency across generations

Gene Pool

collection of genes within a population

Founder Effect

reduction of genetic variability in small populations

Genetic Drift

random fluctuations of allele frequencies from generation to generation

Evolution

changes in allele frequency over time

Natural Selection

organisms with less desirable traits are less likely to mate and pass those traits on

Fitness

measure of survival and reproductive success

Prophase

First phase of mitosis, DNA condenses and nuclear envelope dissolves

Metaphase

Second stage of Mitosis, chromosomes are lined up in the middle of the cell

Anaphase

Third stage of mitosis, chromosomes pulled apart, become sister chromatids

Telophase

Final stage of mitosis, Two new nucleus form, chromosomes begin to diffuse, cell is split into two due to cytokinesis 

Interphase I

First stage of meiosis, chromosomes double

Prophase I

Second stage of meiosis, homologous chromosomes pair and exchange segments

Metaphase I

third stage of meiosis, tetrads line up

Anaphase I

fourth stage of meiosis, homologous chromosomes split up

telophase I

fifth stage of meiosis, cells split from cytokinesis

Path of Genetic information

DNA to RNA to protein

What lead to the creation of genomics

the human genome project

ELSI

program that ensures genetic information is not used in discriminatory ways, focuses on privacy and fairness

three levels of defense from infection

barriers, innate responses, adaptive responses

Inflammatory response

increase blood flow to the infected area

Primary immune response

response to first infection

Secondary Immune Response

second exposure to infection, larger response than first

Herd Immunity

immunity that occurs when a large number of the population is vaccinated helps to protect the immunocompromised

Blood type

certain markers on blood cells, if the wrong one is given causes blood clots

Heterozygote Advantage

increased fitness due to high amount of genetic disorders in a population