Week Two

Question 1

Genotype

Answer 1

What is in your genes

Question 2

Phenotype

Answer 2

What is expressed from your genes

Question 3

Single gene trait inheritance

Answer 3

The easy Punnet Squares! Were one gene is taken from biological parents A and B. depending on dominant and recessive, phenotype shows up differently due to either heterozygous or homozygous.

Question 4

Autosomal dominant/recessive vs. Sex-linked dominant/recessive

Answer 4

Having to do with the 46 chromosomes. 22 pairs are autosomal and 1 pair is sex-linked

Question 5

Examples below describe:

• energy production
• matrilineal inheritance
• heteroplasmy

Answer 5

Mitochondrial gene disorders

Eg NARP neuropathy ataxia retinitis pentosa ; affects nervous system and the mitochondria affecting the nerve cell.

Question 6

When does nondisjuncture happen and give two examples.

Answer 6

Nondisjuncture happens during meiosis. Monosomy and Trisomy

Question 7

What is translocation?

Answer 7

A piece of chromosome fusing onto another

Question 8

Mosaicism

Answer 8

Improper mitosis; early on can create a possible nonviable fetus; later on can only be expressed within the genes

Question 9

What is the leading known cause of miscarriage?

Answer 9

Chromosome abnormalities; 50% of first trimester spontaneous abortions have major chromosomal defects

Question 10

Histone acetylation and DNA methylation affect what?

Answer 10

They affect expression of the genes; the genetic material is not changes, but the “on/off” switches are affected.

Question 11

Genomic Imprinting

Answer 11

What’s passed down - including histone and DNA methylation

Question 12

Epigenetics can…

Answer 12

measure the expression of mRNA

Question 13

Multifactorial diseases

Answer 13

Disease that are both affected by genetic as well as environmental affects

i.e. diabetes mellitus

Question 14

Teratogenic disorders

Answer 14

i.e. fetal alcohol syndrome; toxoplasmosis (cat poop)

Question 15

Epigenetic disorders

Answer 15

i.e. malnutrition, folic acid deficiency

Question 16

How do you identify Genetic Alterations?

Answer 16

Family history and physical (prenatal screening and diagnosis); blood tests (postnatal screening and diagnosis), and genetic counseling

Question 17

An example of an autosomal recessive disorder

Answer 17

sickle cell anemia

Question 18

What type of disorder is Huntington’s Disease?

Answer 18

autosomal dominant

Question 19

Turner syndrome is …

Answer 19

a single X chromosomal disease

Question 20

An example of a multifactorial disease is…

Answer 20

Cardiovascular disease

Question 21

Normal cells can go from dysplasia to in situ neoplasm… what is another way to say that?

Answer 21

Anaplasia or anaplastic cells

Question 22

What has to happen for neoplasm to become invasive?

Answer 22

The cancer needs to grow beyond the basement membrane

Question 23

Name the characteristics of a benign tumor.

Answer 23

grow slowly, well-defined capsule, non-invasive, well differentiated, low mitotic index, no not metastasize

Question 24

Name the characteristics of a malignant tumor.

Answer 24

grows rapidly, not encapsulated, invasive, poorly differentiated, high mitotic index, can spread distantly

Question 25

Describe the difference between an oncogene and a protooncogene.

Answer 25

Protooncogenes (the norm) are the “gas pedals” of the regulatory proteins of cell growth. Oncogenes abnormally produce the proteins that regulate the growth.

Question 26

Mutator genes?

Answer 26

…increase the rate of mutation

Question 27

Tumor suppressor genes…

Answer 27

…are the “break pedals” ; mutator genes can tell the tumor suppressor gene to stop mutating

Question 28

Acquired mutations that occur in the somatic cells are

Answer 28

NOT passed down to progeny

Question 29

Innate mutations that occur in germline cells…

Answer 29

…may be passed to the next generation.

i.e. BRCA1 or BRCA2

Question 30

Neoplasms can occur as an inherited trait…

Answer 30

Retinoblastoma (Rb) and Breast Cancer (BRCA1 and BRCA2)

Question 31

Some examples of carcinogens…

Answer 31

radiation, reactive oxygen species, hormones, tobacco, infectious microorganism, some chemicals

Question 32

Carcinogenesis

Answer 32

Four parts:

1. Initiation (exposure to carcinogen)
2. Promotion (cell becomes wildly mutated and divides rapidly)
3. Progression (mutated cell is stimulated to grow faster)
4. Conversion (becomes metastatic)

Question 33

An important factor in the development of cancer is chronic inflammation. why?

Answer 33

cytokine release, free radicals, decreased response to DNA damage, the leukocytes are food for the cancer.

Question 34

What are the four steps of cancer spread?

Answer 34

1. Local spread (in one area)
2. Direct extension (expands to tissue near the tumor)
3. Seeding (goes into the bloodstream)
4. Metastasis (lands elsewhere in the body)

Question 35

What are the six needs of cancer?

Answer 35

1. Self-sufficiency in growth signals
2. Insensitivity to antigrowth signals
3. Evading apoptosis
4. Limitless replicative potential
5. Sustained angiogenesis
6. Tissue invasion and metastasis

Question 36

Explain TNM

Answer 36

The Tumor Classification System
T - refers to primary tumor (possible Tx, T0, Tis, T1, T2, T3, T4)
N - refers to Lymph Nodes (possible Nx, N0, N1, N2, N3)
M - refers to metastasis (Mx, M0, M1)

Question 37

What are some manifestations of cancer?

Answer 37

lymphadenopathy, fever, anorexia, cachexia, palpable mass, loss of tissue function depending on site, paraneoplastic syndrome

Question 38

What are some treatments of cancer and what do we need to know about them?

Answer 38

Treatments - Chemotherapy, radiation, surgery, immunotherapy, hormones, palliative care……. remember that treatment can cause other complications