Week Two Flashcards
Genotype
What is in your genes
Phenotype
What is expressed from your genes
Single gene trait inheritance
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.
Autosomal dominant/recessive vs. Sex-linked dominant/recessive
Having to do with the 46 chromosomes. 22 pairs are autosomal and 1 pair is sex-linked
Examples below describe:
- energy production
- matrilineal inheritance
- heteroplasmy
Mitochondrial gene disorders
Eg NARP neuropathy ataxia retinitis pentosa ; affects nervous system and the mitochondria affecting the nerve cell.
When does nondisjuncture happen and give two examples.
Nondisjuncture happens during meiosis. Monosomy and Trisomy
What is translocation?
A piece of chromosome fusing onto another
Mosaicism
Improper mitosis; early on can create a possible nonviable fetus; later on can only be expressed within the genes
What is the leading known cause of miscarriage?
Chromosome abnormalities; 50% of first trimester spontaneous abortions have major chromosomal defects
Histone acetylation and DNA methylation affect what?
They affect expression of the genes; the genetic material is not changes, but the “on/off” switches are affected.
Genomic Imprinting
What’s passed down - including histone and DNA methylation
Epigenetics can…
measure the expression of mRNA
Multifactorial diseases
Disease that are both affected by genetic as well as environmental affects
i.e. diabetes mellitus
Teratogenic disorders
i.e. fetal alcohol syndrome; toxoplasmosis (cat poop)
Epigenetic disorders
i.e. malnutrition, folic acid deficiency
How do you identify Genetic Alterations?
Family history and physical (prenatal screening and diagnosis); blood tests (postnatal screening and diagnosis), and genetic counseling
An example of an autosomal recessive disorder
sickle cell anemia
What type of disorder is Huntington’s Disease?
autosomal dominant
Turner syndrome is …
a single X chromosomal disease
An example of a multifactorial disease is…
Cardiovascular disease
Normal cells can go from dysplasia to in situ neoplasm… what is another way to say that?
Anaplasia or anaplastic cells
What has to happen for neoplasm to become invasive?
The cancer needs to grow beyond the basement membrane
Name the characteristics of a benign tumor.
grow slowly, well-defined capsule, non-invasive, well differentiated, low mitotic index, no not metastasize
Name the characteristics of a malignant tumor.
grows rapidly, not encapsulated, invasive, poorly differentiated, high mitotic index, can spread distantly
Describe the difference between an oncogene and a protooncogene.
Protooncogenes (the norm) are the “gas pedals” of the regulatory proteins of cell growth. Oncogenes abnormally produce the proteins that regulate the growth.
Mutator genes?
…increase the rate of mutation
Tumor suppressor genes…
…are the “break pedals” ; mutator genes can tell the tumor suppressor gene to stop mutating
Acquired mutations that occur in the somatic cells are
NOT passed down to progeny
Innate mutations that occur in germline cells…
…may be passed to the next generation.
i.e. BRCA1 or BRCA2
Neoplasms can occur as an inherited trait…
Retinoblastoma (Rb) and Breast Cancer (BRCA1 and BRCA2)
Some examples of carcinogens…
radiation, reactive oxygen species, hormones, tobacco, infectious microorganism, some chemicals
Carcinogenesis
Four parts:
- Initiation (exposure to carcinogen)
- Promotion (cell becomes wildly mutated and divides rapidly)
- Progression (mutated cell is stimulated to grow faster)
- Conversion (becomes metastatic)
An important factor in the development of cancer is chronic inflammation. why?
cytokine release, free radicals, decreased response to DNA damage, the leukocytes are food for the cancer.
What are the four steps of cancer spread?
- Local spread (in one area)
- Direct extension (expands to tissue near the tumor)
- Seeding (goes into the bloodstream)
- Metastasis (lands elsewhere in the body)
What are the six needs of cancer?
- Self-sufficiency in growth signals
- Insensitivity to antigrowth signals
- Evading apoptosis
- Limitless replicative potential
- Sustained angiogenesis
- Tissue invasion and metastasis
Explain TNM
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)
What are some manifestations of cancer?
lymphadenopathy, fever, anorexia, cachexia, palpable mass, loss of tissue function depending on site, paraneoplastic syndrome
What are some treatments of cancer and what do we need to know about them?
Treatments - Chemotherapy, radiation, surgery, immunotherapy, hormones, palliative care……. remember that treatment can cause other complications
