Patholody: Genetics/genetics Of Cancer

Front 1

What is the unit of inheritance?

Back 1

The gene, a nucleic acid sequence that carries the info representing a particular polypeptide.

Front 2

Development of cancer is influenced by both ____ factors and _____ predisposition.

Back 2

Environmental, Genetic

Front 3

Cancer is caused by non-lethal ___ damage in a single cell that ____ expanded.

Back 3

Genetic
Clonally

Front 4

Name the 4 categories of genes that cause cancer and their normal functions.

Back 4

1. Oncogenes- normal cell growth & division
2. Tumor Suppressor Genes- regulate cell division
3. Apoptosis Genes- regulate cell death
4. DNA Repair Genes- repair non-lethal damage (can be group with TS genes)

Front 5

Name 3 types of cancers caused by oncogenes.

Back 5

Chronic myelogenous leukemia- abl moved from chromosome 9 to 22
Pancreatic adenocarcinoma- ras point mutation
Burkitt's lymphoma- myc moves from chromosome 8 to 14

Front 6

A mutation in what type of gene causes Retinoblastoma?

Back 6

Tumor suppressor gene (specifically Rb)

Front 7

What tumor suppressor gene is gone in 50% of human cancers?

What is its specific job?

Back 7

p53

Inhibits cell division when DNA is damaged. It's a transcription factor that slows things down so DNA can be repaired.

Front 8

Name a virus that integrates a viral oncogene to disrupt normal human cellular regulation?

What regulatory gene does it disrupt?

Back 8

Human Papilloma Virus

Degrades p53

Front 9

What specialized structures consisting of characteristic DNA repeat sequences cap and protect chromosome ends and serve to preserve chromosome integrity?

What happens to them in some cancers?

Back 9

Telomeres

In some cancers, they are lengthened by telomerase.

Front 10

What is the enzyme that extends the ends of the telomeres? What type of enzyme is it?

Back 10

Telomerase. It's a reverse transcriptase... the only one in the human body.

Front 11

What is called the "universal tumor antigen" because it is turned on in 90% of human cancers?

Back 11

Telomerase (a.k.a. hTERT= Human Telomerase Reverse Transcriptase)

Front 12

In addition to cancer, telomerase is also implicated in what process?

What herb inhibits telomerase?

Back 12

Aging.

Korean mistletoe lectin

Front 13

What component of green tea inhibits oncogenes?

Back 13

Epigallocatechin gallate (EGCG)

Front 14

What effect does resveratrol found in red wine have on the cell?

Back 14

Increases the expression of p53

Front 15

Name 3 environmental factors that increase the chance of cancer in industrialized society.

Back 15

1. Chemical carcinogens
2. Radiation
3. Oncogenic Viruses

Front 16

Chemical carcinogens can effect ____, thus effecting chromosome stability and gene expression.

Name a carcinogen that does this.

Back 16

DNA methylation

Perinatal diethylstilbesterol (DES)

Front 17

What type of testing can predict a propensity for cancer, diabetes, Parkinson's, Alzheimers and other disorders? Name a specific test of this sort.

Back 17

Genetic testing
Microarray gene analysis

Front 18

Name 4 multifactorial disorders that may have a genetic component.

Back 18

Diabetes
Asthma
Heart Disease
Cancer

Front 19

When any substance, whether it be food or some other environmental component, has an affect on the body, it is effecting ______. In what 3 ways can a substance do this?

Back 19

GENES
Genetic mutation, Gene regulation, DNA methylation/Chromosome accessibility

Front 20

Epidemiological evidence has shown cruciferous vegetables may reduce the risk of what 2 types of cancer?

Back 20

Gastric & Lung cancer

Front 21

genotype + environment = ?

Back 21

phenotype (what is visible)
Genotype and environment are equally important factors

Front 22

A gene determines your genotype. It is the ___ __ sequence that encodes one protein.

Back 22

nucleic acid

Front 23

Each gene contains three segments, including the ___, codons for the enzyme and a stop codon.

Back 23

promoter

Front 24

UV light can cause mutations in the gene sequence. These thymadine dimers lead to what disease?

Back 24

melanoma

Front 25

Radiation, chemicals and viruses are examples of induced mutations. What is an example of a spontaneous mutation?

Back 25

errors during cell division

Front 26

Name the four types of mutation based on function.

Back 26

1. Loss of function (disfunctional protein)
2. Gain of function (overactive protein)
3. Dominant-negative (comp. w/another protein)
4. Lethal

Front 27

PKU is an example of a ____ gene disorder where the mutation is in the ____.

Back 27

single gene disorder with mutation in the enzyme, phenalalanine hydroxylase

Front 28

Name the three types of genetic disorders.

Back 28

Single gene, chromosome, and multifactorial.

Front 29

Genes are encoded by the _______ DNA.

Back 29

chromosomal
Chromatin condenses into chromosomes when the cell starts to divide.

Front 30

The chromosomal composition of the cell including the number of chromosomes and the morphology is called ____.

Back 30

karyotype- a total of 46 chromosomes

Front 31

A diploid is a ____ and a haploid is ____.

Back 31

diploid = pair of chromosomes
haploid = one chromosome, as with gametes in sperm or ova

Front 32

Cell division: ____ occurs every day, whereas _____ occurs only when haploid cells are created.

Back 32

Mitosis occurs every day
Meiosis occurs to create gametes

Front 33

Single gene disorders are characterized by their patterns of ______ within families. They are called Mendelian.

Back 33

transmission (inheritance)

Front 34

A ________ is determined by a specific allele at a single locus on one or both chromosomes.

Back 34

single gene disorder

Front 35

Homozygous refers to _____alleles.

Back 35

identical alleles. Heterozygous = carrier

Front 36

Patterns of transmission of a single gene disorder are dependent on _____ and _______.

Back 36

1. chromosome location- autosomal or x-linked
2. whether the phenotype is dominant or recessive

Front 37

A recessive phenotype is expressed when both chromosomes of a pair carry the _____ allele.

Back 37

varient

Front 38

Familial traits can be mapped using ____ charts and _____ squares.

Back 38

pedigree charts and Punnet squares

Front 39

_____ DNA mutations are strongly linked to diseases such as Alzheimers and Parkinsons.

Back 39

mitochondrial. 37 genes are used for mitochondrial function. Mutations are inherited and not inherited.

Front 40

Genetic disease is caused by ____ and ____ mutations.

Back 40

1. Structural mutation- membrane component, cellular structure components, or extracellular matrix mutations
2.Enzymatic mutation- proteins involved in catabolism and anabolism

Front 41

Huntington's disease is an _______ disease where 50%of offspring are positive.

Back 41

Autosomal dominant- vertical appearance on a pedigree chart. There are no carriers. If you get the gene, you have the disease.

Front 42

In Huntingtons, a dysfunction of the ____ results in neuronal cell death.

Back 42

proteasomes
Huntingtons is a single gene disorder

Front 43

Familial hypercholesterolemia is a _ gene disorder.

Back 43

single gene disorder

Front 44

Sickle cell anemia is an autosomal ______ disease, meaning 25% of offspring are positive.

Back 44

recessive= 25% positive
Horizontal transmission on pedigree chart
Single gene disorder

Front 45

What do albinism, Tay-sachs, CF and PKU all have in common?

Back 45

single gene disorder

Front 46

Color blindness is ____ _____, where there is a gene missing.

Back 46

x-linked recessive
Red and green pigments cluster on x chromosome
usually only males are affected

Front 47

X-linked single gene disorders include hemophilia A, Duchene Muscular Dystrophy, Fragile X and PKU. T/F

Back 47

False- PKU is not an x-linked single gene disorder, but the other three are.

Front 48

Down's syndrome is a chromosomal defect where there are (PICK missing or extra) chromosomes.

Back 48

extra

Front 49

Turner's Syndrome, Prader-Willi Syndrome and Burkitt's Lymphoma are chromosomal defects with (PICK missing or extra) chromosomes.

Back 49

missing

Front 50

Name a multifactorial disease. This occurs when genetics and _______ generate a disease ____.

Back 50

This occurs when genetics and environment generate a disease phenotype. coronary artery dz, congenital heart dz, diabetes, cancer, neural tube defect, etc

Front 51

Multifactorial genetics includes congenital defects such as anencephaly and _____, as well as disorders of adult life such as _____.

Back 51

spina bifida
Adult- DM, obesity, manic depressive psychosis, cancer, schizophrenia, coronary artery dz, etc