BIOMED 2.2

MRI

MRI

magnetic resonance imaging

patholigist

person who studies diseases

Cytopathologist

examines cells under a microscope to look for signs of cancer

cytogeneticist

a scientist who studies chromosomes under the microscope

Music Therapist

a person who helps heal patients through the use of music

geneticist

a specialist in the field of genetics

genetic counselor

person trained to collect, analyze, and explain data about human inheritance patterns

differential diagnosis

a list of potential diagnoses compiled early in the assessment of the patient

solid mass tumors

Solid mass of tissue that forms when abnormal cells group together

Somatic Cells

Any cells that arent sex cells (Eggs and sperm)
Contain 46 chromosomes

Interphase G1

Cell grows and works. Cell is "diploid"
In chromatin form

Interphase Synthesis

Chromosomes in chromatin form replicate there DNA but still together

Interphase G2

Cell grows and works but organelles replicate

Prophase (mitosis)

chromatin condenses into chromosomes
centriole pairs separate, move toward opposite sides of the cell

Metaphase (mitosis)

Chromosomes line up in the middle of the cell

Anaphase (Mitosis)

sister chromatids separate

Telephase (Mitosis)

Cell begins to pinch off,new membrane from around cell

Cytokinesis

the cell itself divides, resulting in two genetically identical cells.

Chromatids

two identical chromosomes that split and contain the same genetic material

Centromere

Region of a chromosome where the two sister chromatids attach

Chromosomes

threadlike structures made of DNA molecules that contain the genes
46 total and 23 pairs in human body

metastasis

The spread of cancer cells beyond their original site

basal cell carcinoma

type of skin cancer that originates in the basal cell layer of the epidermis. The epidermis is the outermost layer of skin.

malignant tumor

cancerous tumors. These tumors are harmful and can invade other tissues or spread to other parts of the body if not treated.

benign tumor

considered harmless. They will not spread to other parts of the body or invade other tissues and are not cancerous.

Cancer Cells

Irregularly shaped, varrying size and shape, no specialized features and disorganized arrangement and boundaries

Neurofibromatosis type 1

Caused by mutation on Chromosome 17

Genetic Disorder

Health condition caused by changes to the sequence of DNA bases

Mutation

change to a DNA sequence

Protein Synthesis Transcription

happens in the nucleus
mRNA comes into Nucleus and to latch onto DNA which then mRNA gets edited and is sent to out to the ribosomes pr rough ER for translation

Protein Synthesis: Translation

occurs in nucleus and rough ER
If ribosome is free floating the cell will use energy but if ribsome is on rough ER cell will export energy out
During translation ribosome reads mRNA sequence and sends corresponsing tRNA connected to amino acid matches up mRNA to create a polypeptide

Where is the anti codon?

tRNA

Where is the codon?

mRNA

point mutation

a mutation affecting only one or very few nucleotides in a gene sequence.
Substitution, inversion

frameshift mutation

mutation that involves the insertion or deletion of a nucleotide in the DNA sequence
Deletion and Insertion

Genotypes

Gene pair. A pair of letters

Phenotype

physical characteristics being expressed

Homozygous

Same alleles

Heterozygous

having two different alleles for a trait

dominant allele

Alleles that are expressed'
Usually UPPERCASE

Recessive allele

Alleles that are not expressed
Usually lowercase

Pedigrees

graphic organizer to track the frequency of a trait

autosomal dominant

One mutated allele is sufficient to cause symptoms in the individual

Autosomal Reccesive

Two mutated alleles are required for the individual to experience disease symptoms

homologous chromosomes

Pair of chromosomes that are the same size, same appearance and same genes.

Familiar Cholesteral

autosomal dominant genetic condition. Causes LDL to be very high and makes atherosclerosis more likely

Endocrine System

network of glands that produce hormones regulating functions like growth, metabolism, and reproduction

Contains

• Hypothalamus and pituitary gland

• Pineal gland

• Thyroid gland

• Pancreas

• Adrenal gland

• Testis

Karyotype

organized profile of a person’s chromosomes

Karyotypes

help scientists quickly identify chromosomal alterations

Meiosis

Type of cell division that makes gametes

At the end of meiosis sperm and egg should contain 23 chromosomes

Diploid Cell

Haploid Cell

Glands

Organs that secrete chemicals

Independent Assortment

states that alleles of different genes segregate independently of each other during gamete formation

Hormones

• Chemical signaling molecules

  • Help regulate growth and development, metabolism, reproduction, and sleep-wake cycles

Crossing Over

The exchange of genetic material between homologous chromosomes during meiosis, leading to genetic variation in offspring.

Nondisjunction

When a member of a pair of chromosomes fail to separate in Meiosis I, or the sister chromatids don’t separate in Meiosis II

Monosomy

When there is only 1 chromosome instead of 2

Trisomy

When there are 3 chromosomes instead of 2

Chromosome Structure

Human Growth Hormone HGH

protein hormone made in the pituitary gland that stimulates growth, cell reproduction, and cell regeneration. It is also responsible for increasing height during childhood and adolescence.

Insulin Like growth factor

protein hormone mainly secreted by the liver that stimulates HGH, helping children grow in height.

Direct to Consumer genetic test

Genetic tests that are marketed directly to consumers without the involvement of a healthcare provider.

Predisposition

individual's tendency or likelihood to develop a particular condition or behavior based on genetic, environmental, or other factors.

Genealogy

study of family history and lineage, tracing ancestors and descendants through generations to understand relationships and heritage.

Polymerase Chain Reaction PCR

technique to amplify DNA

repeatedly heat and cool the sample amplification

Restriction Fragment Length polymorphism

A technique that analyzes DNA by cutting it with restriction enzymes, separating fragments by size

What shows no FH

ff (Codes for normal protein receptors on the liver cells grabs extra LDL changes into bile and put into intestine to excrete (Process that removes cholesterol)

FH homo

Severe FH

(FF)

All receptors mutated or missing

NO LDL into cells so stays in blood and tissue

NEED several meds to stop liver from making LDL, exercise and eat well (No fat)

FH heterozygous

Moderate form of FH

(Ff)

Some normal receptors some mutant receptors

Can only grab half the amount of LDL that a normal person can grab

Moderately high LDL and most likely need meds and good exercise and food habits

Is high cholesterol (High LDL) with (ff) caused by genes?

NO caused by what you eat and excercise habits

Usually med is not needed

What is added to the genes to make a pattern?

Restriction Enzyme

ff in gel

Goes along gel and no place to cut (Long strand)

FF in gel

Enzyme cuts ONCE (Cuts top off and seperates bottom)

2 small fragments 2 medium fragments

Ff in gel

1 long fragment, 1 medium fragment and 1 small fragment

Contains most bands

What is no sickle cell?

SS (Normal betaglobin in hemaglobin)

Hetero sickle

Ss half normal betaglobin, half mutant betaglobin

Sickle cell trait/carrier

Homo Sickle

ss ALL mutated beta-globin

Sickle cell disease

recessive

What does a colored shape on a pedigree mean?

recessive expressed trait

Can a pedigree determine if a trait is dom or recessive

YES

What do you do when you need to transcribe a DNA strand

Use mRNA and use AUGC

What do you need to do to translate a DNA strand

use amino acid chart

What are the symptoms of sickle cell?

When your a doc do you explain test reuslts w anyone that isn’t the patient?

NO unless you get permission

Diff between meiois and mitosis and end result?

Meiosis: Cell division resulting in 4 genetically unique haploid cells. Mitosis: Cell division resulting in 2 genetically identical diploid cells