Genetic Diseases

tissues, organs

cells are arranged into ________________, which are arranged into _________________

metabolism, growth

the nucleus regulates cell _________________ and ________________

nucleus

info storage, retrieval, and duplication of genetic info

responsible for transcription via mRNA

produces ribosomes in nucleolus

endoplasmic reticulum

transportation of proteins to other organelles (golgi, lysosomes)

rough

______________ endoplasmic reticulum synthesizes proteins and is lined with ribosomes (high in RNA)

smooth

_______________ endoplasmic reticulum synthesizes lipids and steroids

ribosome(s)

site of biological protein synthesis

rough ER, dendrites of neurons (faster onsite protein synthesis)

2 places ribosomes are found

amino acids, RNA

ribosomes link ___________________ together according to _____________ instructions

golgi (apparatus)

a system of membranes that modifies and packages proteins for export by the cell

lysosome(s)

digestive organelle

phagocytosis

perform autophagy (recycle cell's organic material)

numerous in disease-fighting cells (WBC's)

mitochondria

energy production via respiration

powerhouse of the cell

true (mtDNA)

true/false: mitochondria have their own DNA

mother, egg

mitochondria have their own DNA, which means it is passed from _______________ to offspring via the ____________ only

cytoskeleton

provides structure to the cell, allows cell movement, and facilitates internal trafficking of intracellular materials

dynamic, protein

the cytoskeleton is a ___________________ network of __________________ fibers

microfilaments (actin filaments), intermediate (neuro) filaments, microtubules

3 types of filaments in the cytoskeleton

cell movement, orderly transport, mechanical support

functions of parts of cytoskeleton:

microfilaments =

microtubules =

intermediate filaments =

chronic traumatic encephalopathy

form of dementia caused by repeated head trauma such as concussions

tau

__________ binds to microtubules and assists with their formation and stabilization

tau tangles

tangles of a protein called Tau that builds up inside of cells and leads to neuronal death

can lead to Alzheimer's

gradient

the cell membrane maintains an electrical and chemical ____________________

protein(s)

50% of the cell membrane mass is composed of ___________________

genome

a complete set of genes

true (started in 1990's)

true/false: the human genome project is new

human genome project

made maps that show the location of genes for major sections of all our chromosomes

24,000, 23

the human genome is composed of approximately _______________ genes located on _________ pairs of chromosomes

chromatin

DNA + associated proteins (Histone) that form chromosomes

Histone

protein molecule around which DNA is tightly coiled in chromatin

keeps everything tied together

telomere(s)

ends of chromosomes

shorten

telomeres _______________ each time a cell divides

cell death, aging

telomeres contribute to _______________ and ________________

centromere(s)

joins the two sister chromatids

p, q

short end of chromatid = ____ arm

long end of chromatid = _____ arm

.

chromosome anatomy

23, 46

we have ________ pairs of chromosomes

we have ________ chromosomes

22

we have _______ pairs of homologous chromosomes

autosome(s)

any chromosome that is not a sex chromosome

homologous (XX), hemizygous (XY)

the female sex chromosome is ___________________

the male sex chromosome is ____________________

allele(s)

variation of a given gene for a specific trait

allele(s)

eye color and blood type are examples of what?

homo, hetero

__________zygous = 2 of same allele on a chromosome

_________zygous = 1 of each allele on a chromosome

.

homozygous vs heterozygous chromosomes

genotype

genetic makeup

phenotype

observable presentation

DNA

molecule that carries genetic info

deoxyribose nucleic acid

what does DNA stand for?

gene

segment of DNA that codes for ONE PROTEIN

one

1 gene is how many proteins?

Adenine, Thymine, Cytosine, Guanine

name the DNA bases

proteins

nucleotide base pairs code for ___________________

guanine-cytosine, adenine-thymine (uracil in RNA)

nucleotide base pairs:

______________-_______________

______________-_______________

thymine, uracil

the DNA base ___________________ turns to _________________ when it is replicated on RNA

replication

the process by which DNA makes a copy of itself during cell division

transcription

mRNA is synthesized from a single strand of DNA

translation

mRNA is used to synthesize proteins with the help of tRNA at a ribosome

DNA makes a copy of itself, RNA synthesis, protein synthesis

replication =

transcription =

translation =

.

DNA replication video:

https://www.youtube.com/watch?v=TNKWgcFPHqw

mRNA, single

in transcription, ____________ is synthesized from a ________________ strand of DNA

coding area, sequence of 3 bases that codes for a protein, non-coding area

exon =

codon =

intron =

exon

coding area of DNA

2% of DNA

codon

sequence of 3 DNA bases which is required to code for a protein

2

exons make up ______% of DNA

intron

non-coding area of DNA

helps break up genes and communication

antibodies, enzymes, messengers, structural, transport/storage

5 functions of proteins

antibody

which protein function: IgG

enzyme

which protein function: helicase unwinds DNA

messenger

which protein function: growth hormone

structural

which protein function: actin framework of cells and muscle

transport/storage

which protein function: ferritin stores iron

true

true/false: dysfunction of a SINGLE protein can have a profound impact on function in the organism

chromosomal (abnormalities), single gene (disorders), multifactorial (polygenic, disorders), mitochondrial

4 types of genetic disorders

Mendelian, Non-Mendelian

2 categories of single gene disorders

number, structure

chromosomal abnormalities deal with an abnormal _________________ or ________________ of chromosomes

autosomal, sex

trisomy 21 and trisomy 18 are __________________ chromosome disorders

Kleinfelter's syndrome is a _________________ chromosome disorder

trisomy 18/Edward's syndrome

which autosomal chromosome disorder: severe intellectual impairment and live only a few weeks after birth

Kleinfelter's Syndrome

which chromosome disorder:

47 chromosomes (XXY)

extra X chromosome = infertility and small testicles

atypical sexual development and feminization

most common genetic disease of sex chromosome

.

see dx guides for Down's syndrome, Huntington disease, Tay Sach's disease, Duchenne Muscular Dystrophy

down's syndrome

most common chromosomal disorder

down's syndrome

leading cause of intellectual impairment

deletion

loss of chromosomal material

duplication

extra copies of a portion of DNA

inversion

the removal and upside-down re-insertion of a section of chromosome

substitution

the movement of a piece of DNA to a non-homologous chromosome

translocation

the exchange of pieces of DNA between non-homologous chromosomes

deletion

what is this a picture of?

duplication

what is this a picture of?

inversion

what is this a picture of?

translocation

what is this a picture of?

substitution

what is this a picture of?

miscarriage(s)

chromosomal abnormalities/moving parts can often lead to ____________________

autosomal dominant, autosomal recessive, sex-linked

3 single gene disorders

autosomal dominant

which type of single gene disorder:

- males/females equally affected

- affected individuals usually have an affected parent

- unaffected individuals do not transmit the disease

- ex: Marfan's, Huntington's, polycystic kidney disease, ehlers-danos

autosomal dominant

Marfan's, Huntington's, polycystic kidney disease, and ehlers-danos are examples of what single gene disorder?

autosomal dominant disorder

what is this a picture of?

all people with affected gene will have the disease

what does complete penetrance mean?

movement impairment, cognitive involvement, psychiatric presentation

3 components of Huntington disease clinical manifestation

chorea

movements that are sudden, random, and involuntary

basal ganglia, movement control

Huntington disease affects what part of the brain, which is responsible for what?

autosomal recessive (disorder)

which type of single gene disorder:

- males/females equally affected

- disease NOT apparent in parents, but BOTH parents are carriers

- unaffected individuals do not transmit disease

- ex: albinism, phenylketonuria, freidreich ataxia, sickle cell anemia, ehlers-danos, tay sachs disease, cystic fibrosis