Term
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Definition
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Term
which type of cell division results in 2 daughter cells with 23 pairs of chromosomes?
what type of cells does this occur in? |
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Definition
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what type of cell division results in 4 daughter cells, each with 1 set of 23 chromosomes?
type of cells that this occurs in ? |
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Definition
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Term
| how many chromosomes make up an autosome? |
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Definition
22 pairs
sex chomosome (X or Y) is the 23rd
XY male
XX female |
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Term
| ____________ is the physical manifestation of genetic information |
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Definition
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Term
| _____________ is the sum total of genetic information in the cells |
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Definition
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Term
| a recessive trait is only expressed in a ____________ pairing |
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Definition
homozygous (aa)
aa = blue eyes
Aa = brown eyes
A= brown
a = blue |
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Term
| which type of autosomal diseases usually manifest later in life? |
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Definition
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Term
| what type of autosomal diseases typically manifest from birth? |
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Definition
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Term
a patient that is affected by this type of disease will also have a parent that is affected.
name 4 |
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Definition
Autosomal Dominant Single Gene Diseases:
Huntington's Chorea
Familial hypercholesterolemia
Marfans syndrome
Von Willebrand's disease
Tall and skinny, high Cholesterol, bleeding disorder, uncoordinated |
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Term
| what is the most common autosomal recessive disease? |
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Definition
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Term
name 2 non-sex linked diseases that a pt can inherit from parents who are unaffected by the disease.
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Definition
Autosomal Recessive Single Gene Diseases:
Cystic Fibrosis
Sickle Cell Disese |
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Term
| Name 3 genetic diseases that only affect males but can be carried by females. |
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Definition
X-linked Recessive Diseases:
Hemophilia A
Duchenne musclar dystrophy
Fragile X syndrome |
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Term
Down syndrome
Turner syndrome
Klinefleters syndrome
examples of what type of genetic disorder? |
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Definition
Chromosomal Disorders:
Down syndrome = Trisomy 21
Turner syndrome = Monosomy (45, X)
Klinefleters syndrome = Polysomy (47, XXY) |
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Term
| what autosomal recessive disease is associated with chromosome 11? |
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Definition
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Term
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Definition
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Term
| What are the two main features that define cancer? |
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Definition
1. Cell growth is not regulated by external signals (malignant cell replication, angiogenesis)
2. Cells invade tissues and metastasize
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Term
what are the 4 phases of the cell cycle in somatic cells?
explain the key features of each phase |
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Definition
G1 phase: duplication of cellular contents (not chromo)
S phase: Synthesis of DNA, duplication of chromosomes
G2 phase: RNA protein synthesis, checking/repairing chromosomal duplication
M phase: Mitosis, nuclear and cellular division into 2 daughter cells (46 chrom each / 2 sets of 23 chromo) |
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Term
| what type of mutation causes a heriditary cancer? |
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Definition
germline mutation
typically involve tissue suppressor gene mutation |
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Term
| what is the difference between malignant cell growth, neoplasia, and hyperplasia? |
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Definition
malignant cell growth is colonal (results from genetic mutations passed on through replication), infiltrative (can invade other tissues), and metastatic (can spread to other areas of the body away)
Neoplastic cell growth is the abnormal or uncontrolled growth of cells and cannot spread by invasion or metastisis
Hyperplastic cell growth is the increase in the number or normal cells in a tissue or organ (not colonal growth) |
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Term
| Most somatic mutations are dominant traits and are due to _______________ |
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Definition
Most somatic mutations are dominant traits and are due to translocations.
translocations form oncogenes |
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Term
| what are the 3 classes of cancer genes? |
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Definition
proto-oncogens
oncogenes
tumor suppressor genes |
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Term
| what type of cancer genes code for proteins involved in normal cell growth and differentiation |
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Definition
proto-oncogenes
are convered to oncogenes through mutations or increased expression |
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Term
| what type of cancer genes are mutations of genes that accelerate proliferation? |
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Definition
oncogenes
turn a normal cell into a tumor (neoplastic) cell |
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Term
| what type of cancer genes are mutations of genes that negatively regulate (restrain) proliferation? |
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Definition
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Term
what type of oncogene is C-Sis?
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Definition
C-Sis is a growth factor oncogene that causes cells to secrete growth factors, leading to uncontrolled proliferation
C-Sis = growth factor oncogene = uncontrolled proliferation of cell |
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Term
activation of _________ causes cell growth, differentiation, and survival.
mutations of this pathway have to do with 50% of adult CA, specifically tumor growth |
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Definition
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Term
Myc gene regulates transcription of genes that regulate what?
what type of CA is associated with Myc gene mutation? |
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Definition
cell proliferation
Myc translocation involved in the development of Burkitt's lymphoma |
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Term
what type of gene is retinoblastoma (RB)?
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Definition
tumor suppressor gene
germline cell, chromosome 12
inhibits cells division cycle (cancer turns this function off) |
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Term
what gene is frequently mutated in solid tumors?
germline mutations of this gene cause Li-Fraumeni syndrome |
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Definition
Tumor suppressor gene p53
Tumor suppressor gene p53 = Li-Fraumeni syndrome |
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Term
| __________________ is cause of colon cancer due to a genetic mutation in the DNA repair system leading to microsatellite instability. |
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Definition
Lynch Syndrome
Hereditary Nonpolyposis Colon cancer (HNCC) |
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Term
loss of p53 tumor suppressor gene
or gain of function of oncogene Bcl-2 cause cells to lose what function? |
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Definition
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Term
| vascular endothelial growth factors (VEGF) are proto-ongogenes involved in what aspect of tumor growth/cancer progression? |
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Definition
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Term
| __________________ are used to predict the future behavior of cancer. |
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Definition
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Term
| ______ is a proto-oncogene that signals a more aggressive breast cancer. |
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Definition
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Term
| mutations in that gene are found in ~50% of adenocarinomas (pancreas, colon, lung), thyroid tumors, and myeloid leukemia? |
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Definition
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Term
| __________ can contribute to the development of cancer by forcing host cells to proliferate indefinitely. |
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Definition
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Term
| ___________ activate proto-oncogenes through inserting their genome adjacent to the cellular genes. |
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Definition
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Term
| what syndrome is cx by hyperkalemis, hyperphosphatemia, hypercalcemia, and hyperuricemia secondary to spontaneous or treatment related cell death? |
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Definition
Tumor Lysis Syndrome
usu occurs in leukemia, lymphoma CA |
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Term
| small cell lung cancer in the right apex is commonly associated with what syndrome cx by dyspnea, facial swelling, and venous distension in the neck and facial area? |
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Definition
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Term
what complication of CA is associated with LBP, saddle paresthesias, overflow incontinence, and LE motor dysfunction?
What type of CA typically causes this? |
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Definition
Spinal cord compression
Cause: bony METs with extension into the epidural space |
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Term
| what metabolic disorder is caused by bony METs, paraneoplastic syndrome, and/or lymphoma? |
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Definition
Hypercalcemia
due to release of PTHrP (paraneoplastic syndrome) or calcitriol(lymphoma)
"bones, groans, psychiatric overtones" |
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