human genetics 4 test

cancer

accumulation of mutations causing uncontrolled cell proliferation

benign tumor

mass of NONCANCEROUS abnormal cells

malignant tumor

mass of abnormal cells that ARE cancerous

metastasis

malignant cells entering the blood or lymph fluids to develop new tumors

hyperplasia

cells divid faster than normal and build up.

benign

look normal under microscope

dysplasia

cells divide faster than normal and build up.

benign.

cells do not look normal under microscope

low, moderate, or high grade

carcinoma in situ

cells have high-grade dysplasia

cells are benign but have high risk of becoming malignant

spontaneous or induced mutations

most cancer causing mutations are ____ or _______ that occur throughout life

mutagen

agent that causes mutation

carcinogen

agent that can promotes the development of cancer

proto-oncogenes

normal genes that cause normal cells to become cancerous when they develop a gain of function mutation (typically dominant)

-promote cell division

-inhibit cell death

oncogenes

mutated versions of proto-oncogenes

-promote cell division

-inhibit cell death

tumor suppressor

mutations in proto-oncogenes and ____ _____ genes promote cancer

protein

proto-oncogenes include genes encoding _____ that function in the signaling pathway that promotes cell division

hardy weinberg equilibrium relates allele and genotype frequency

tumor suppressor

_____ _______ genes cause normal cells to become cancerous when developing a Loss of function mutation (typically recessive mutation)

death

tumor suppressor genes encode proteins that

-inhibit cell division

-promote cell ____ (apoptosis)

-involved in DNA repair

Rb tumor Supressor

-Gene that is a master regulator of cell cycle. (halts G1/S cell cycle transition)

-interacts with the E2F transcription factors and prevents transcription

Retinoblastoma

individuals who inherit a mutation in Rb gene have a predisposition to developing ______

p53

transcription factor that activates genes that promote DNA repair for damaged DNA

(if DNA is not repaired, the TF it promotes apoptosis)

if p53 gene is mutated, cells with DNA damage will continue to survive and divide (accumulating more damage)

predisposition

someone with an inherited _______ has a greater risk of developing cancer compared to someone who doesnt

population

individuals of the same species

same location

same time

gene pool

all alleles of every gene in a population

allele frequency

specific allele in a population/ total number of all alleles in a population

dominant

recessive

p= frequency of ______ allele

q= frequency of ______ allele

genotype frequency

individuals with specific genotype in a population/ total number of individuals in a population

dominant

recessive

p2= frequency of homozygous _______ genotype

2pq= frequency of heterozygous genotype

q2= frequency of homozygous ______ genotype

Hardy Weinberg Equilibrium Conditions-random mating

-no natural selection

-no migration

-no genetic drift

-no new mutations

if conditions are met then allele and genotype frequencies will remain constant from generation to generation

hemizygous

males are ________ for X linked genes

microevolution

changes in the gene pool from generation to generation

natural selection

individuals with beneficial alleles that enhance survival and/or reproductive success will be more likely to survive on and/or pass alleles

fitness

measure of reproductive success

mean

natural selection selects for a phenotype on one side of the _____

heterozygote

__________ have a survival advantage over either of the homozygous genotypes

HbA/HbS

increased resistance to malaria

genetic drift

a change in allele/genotype frequency due to random chance

small

allele frequencies are more susceptible to genetic drift in ______ populations

bottleneck effect

decreases dramatically in size due to natural event

die randomly

genetic composition is altered

founder effect

-small group separate from a larger population

-allele frequencies of the founder population are not representative of the original population

migration

gene flow that occurs when individuals migrate between populations with different allele frequencies

increases

reduces

migration _________ genetic variation within the receiving population and ________ genetic variation between populations

random mating

choose a mate randomly of genotype and phenotype

assortative mating

choose a mate with similar phenotype (+) or a different phenotype (-)

-effects depend on the number of genes involved in producing phenotype

-effects of assortative mating cannot be easily measured

inbreeding

mating between two closely genetically related individuals

polygenic traits (most are complex traits)

traits determined by more than one gene

quantitative traits

traits described by numerically, height, weight, metabolic rate

continuous

meristic

threshold

3 examples of quantitative traits

____ ____ - do not fall into discrete categories

_____ _____ - can be counted and expressed in whole numbers

____ ____- traits that show a genetic predisposition but determined by the contritbution of several genes and enviroment ( diabetes; heart disease)

continuous

_______ traits can be described with a frequency distribution

bell shaped

normal distributions show a ___ ____ curve.

-peak at the mean

-symmetrical distribution about the mean

covariance Cor

_______ extent to two variables depend on each other

-2 phenotypic traits

-trait and environmental factor

-trait and a genetic relationship

increase

decrease

Correlation Co-efficient

-if r > 0 , one factor increases and the other factor will ______

-if r = 0 the two factors are not related

-if r < 0 one factor increases, the other factor will _______

Broad Sense Heritability

____ _____ ______ proportion of overall variance that is due to genetic variance

-measure of the extent to which differences among individuals are due to genetic factors

-measure of how much nature contributes to phenotypic variance

Vg

broad sense heritability variance due to genetic factors

Vx

broad sense heritability total variance

Va

narrow sense heritability variance due to additive effects of alleles

Vd

narrow sense heritability variance due to effects of alleles that show a dominant/recessive inheritance patter

Vi

Narrow sense heritability variance when alleles interact in an epistatic manner

PCR

____ is used to amplify a DNA sequence

template

primers

Nucleotides

Taq polymerase

PCR requires the following components:

______ DNA (DNA to amplified)

______ (short DNA sequences , (oglionucleotides) complimentary to target DNA)

DNA ______ (A G T C)

___ ______ (heat stable)

denaturation

primer annealing

primer extension

3 steps of PCR?

detecting

isolating

uses of PCR

-amplification of DNA

-_____

-_____ a gene for insertion into a vector

-Reaserch

Complimentary DNA (cDNA) - does not contain introns

DNA produced from mRNA. Produced using the reverse transcriptase.

primer

Overview of cDNA production

-adds a ____ that bind to polyA tail

-adds reverse transcriptase

-perform PCR

Gel Electrophoresis

separates DNA fragments or proteins based on size

(smaller fragments migrate faster)

Quantitative PCR (qPCR)

quantifies the amount of starting DNA present in a sample

DNA fingerprinting

compares genetic material from 2 sources

-used to sequence short DNA sequence

-DNA is replicated in the presence of dideoxynucleotides

-addition of a dideoxynucleotide results in chain termination and end of DNA replication

southern blotting

uses DNA probe to detect the presence of a target DNA sequence

northern blotting

DNA probe to detect the presence of a target RNA sequence

western blotting

uses an antibody to detect the presence of a particular protein

vector

small DNA molecule used as a vehicle to transfer foreign DNA into another cell

restriction endonuclease

bacterial enzymes that cut DNA at specific location called restriction sites

some produce sticky ends (some ends can be joined together)

genetically modified organism

an organism whose genome has been artificially altered

organisms whose genome has been artificial altered due to the introduction of foreign DNA

knock out mouse

when a gene of interest is inactivated in the mouse genome

knock in mouse

when a gene of interest is inserted into the mouse genome

Cas9

enzyme that can be guided by a reprogrammable RNA to cut a specific genetic sequence allowing DNA to be replaced deleted or inserted

transgenic

diseases

foods

Crispr is used for thing like

-replacing _____ techniques

-treatment of ____

-genetically modified ____

stem cells

what cells are capable of dividing and renewing themselves and unspecialized and catagorized by their developmental stage

totipotent

stem cells that can give rise to entire organim

pluripotent

stems cells than can differentiate into all cell types in the body but not the extra embryonic tissues

embyonic

induced

what are the examples of pluripotent stem cells:

-______ stem cells

-umbilical cord stem cells

-_______pluripotent stem cells

adult

_____ stem cells can be multipotent or unipotent