Term
| Which type of tumor does not invade surrounding tissue? |
|
Definition
|
|
Term
| Which type of tumor is described as infiltrating nearby tissue and metastasizing through the bloodstream and lymphatic system throughout the body? |
|
Definition
|
|
Term
| What % of CA are inherited as single gene disorders? |
|
Definition
|
|
Term
| When/Where do mutations that cause CA occur? |
|
Definition
| occur in the somatic cell divisions over a lifetime |
|
|
Term
| What causes cancer when inappropriately activated? |
|
Definition
|
|
Term
| What causes cancer when they are deleted or inactivated? |
|
Definition
|
|
Term
| What gene has the function of maintaining the normal replication rate for a particular cell line? |
|
Definition
|
|
Term
| What does the timing, rate, and number of mitoses a cell undergoes depend on? |
|
Definition
Protein growth factors
Signaling molecules outside the cell
Transcription factors inside the cell |
|
|
Term
| What is on the end of the chromosome and controls how many times it can replicate? |
|
Definition
|
|
Term
|
Definition
| enables the cell to continue dividing |
|
|
Term
| What is the length of skin, nerves and muscle tissue telomeres in comparison to sperm cells or oocytes? |
|
Definition
Skin, nerves and muscle tissue have shorter telomeres
Sperm cell or oocytes have very long telomeres |
|
|
Term
| Where do most CA mutations occur? |
|
Definition
| somatic cells (usually sporadic) |
|
|
Term
| Which type of mutation is described as directly inherited as it is present in every cell, even gametes? |
|
Definition
|
|
Term
| What is different about CA cell division than normal cell division? |
|
Definition
| Cancer cells divide faster |
|
|
Term
| What is different about the appearance of CA cells? |
|
Definition
- pile on top of each other, instead of in a single layer
- grow irregular, squeezing between other cells
- don't differentiate |
|
|
Term
| What term means the development of new growth of capillaries to further supply nutrients and oxygen to the tumor? |
|
Definition
|
|
Term
| What protein is responsible for causing angiogenesis? |
|
Definition
| Vascular Endothelial Growth Factor |
|
|
Term
| What are the 4 factors that can lead to the development of CA cells? |
|
Definition
- Activation of stem cells producing CA cells
- De-differentiation of Cells to CA cells
- Increase in stem or progenitor cells
- Messed up tissue repair |
|
|
Term
| What genes normally trigger cell division when it is appropriate? |
|
Definition
|
|
Term
| What may cause an abnormal activation of a proto-oncogene? |
|
Definition
| may be due to a mutation or a translocation |
|
|
Term
| Which gene "decides" whether a cell repairs DNA replication errors or dies by apoptosis? |
|
Definition
|
|
Term
| What gene or mutation is responsible for more than half of all CAs? |
|
Definition
|
|
Term
| What mutation is responsible for familial adenomatous polyposis? |
|
Definition
|
|
Term
| What are some new approaches to treating CA? |
|
Definition
Blocking hormone receptors
Stimulating cell specialization
Blocking telomerase
Inhibiting angiogenesis
Engineered antibodies |
|
|
Term
| Which type of genetic screening is described as being able to identify heterozygotes? |
|
Definition
|
|
Term
| Which type of genetic screening is described as detects mutant allele in a fetus for a known condition in the family? |
|
Definition
|
|
Term
| Which type of genetic screening tests fetuses for increased risk of a condition not based on family history? |
|
Definition
|
|
Term
| What type of genetic screening is described as population-wide testing for inborn errors of metabolism? |
|
Definition
|
|
Term
| What type of genetic screening is described as confirms diagnosis based on symptoms? |
|
Definition
|
|
Term
| Which type of genetic test is described as the most sensitive method for analyzing nucleic acid analysis? |
|
Definition
| PCR - Polymerase Chain Reaction |
|
|
Term
| What test amplifies a single molecule of DNA several billion fold in a few hours, is extremely sensitive, fast and inexpensive? |
|
Definition
|
|
Term
| Which testing method is described as provides a way to visualize and map the genetic material in an individual's cells, including specific genes or portions of genes? |
|
Definition
| FISH - Fluorescence in situ hybridization |
|
|
Term
| Which testing method does NOT have to be performed on cells that are actively dividing? |
|
Definition
|
|
Term
| Which testing method is described as powerful 24-color, whole-chromosome painting assay that allows the simultaneous visualization of each chromosome in different colors? |
|
Definition
| Spectral karyotyping (SKY) |
|
|
Term
| Which genetic test is the MC used technique for examining one or more proteins in a sample of cells or tissues? |
|
Definition
|
|
Term
| What genetic test is commonly used for detecting muscular dystrophy? |
|
Definition
|
|
Term
| How many chromosomes are there? |
|
Definition
|
|
Term
|
Definition
| All chromosomes except sex chromosomes |
|
|
Term
| How many strands of DNA are in each chromosome? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What are the four nitrogen bases? |
|
Definition
| adenine, guanine, cytosine, thiamine |
|
|
Term
| In which phase are chromosomes visible? |
|
Definition
| Metaphase or prometaphase |
|
|
Term
| What are the two types of cell division? Which types of cells? |
|
Definition
Mitosis - somatic
Meiosis - gametes |
|
|
Term
| What are diploids? What are haploids? |
|
Definition
diploids - cells that contain 46 chromosomes
haploids - (sex cells) contain 23 or half the amt of chromosomes |
|
|
Term
| What term is described as actual genetic makeup? |
|
Definition
|
|
Term
| What term is described as the trait that is expressed? |
|
Definition
|
|
Term
| What term is described as a complete picture of the chromosomes? |
|
Definition
|
|
Term
| What does HIPAA say about genetic info? |
|
Definition
| Prohibits denying coverage, limiting eligibility, or charging more based on genetic info |
|
|
Term
| What term means the obligation of those who obtain information about individuals, either legitimately or illegitimately, to protect the privacy of that information? |
|
Definition
|
|
Term
| What term is described as the moral obligation, usually under exceptional circumstances, to disclose information to at-risk relatives; this duty may require a health care professional to breach patient confidentiality if a person, other than the patient, is in clear and imminent danger? |
|
Definition
|
|
Term
| What term is described as a process in which the release or divulgence of information by an entity is to persons or organizations outside of that entity or to another person? |
|
Definition
|
|
Term
| What term is described as the obligation to respect the decision-making capacities of autonomous persons who have been fully informed with accurate and unbiased information? |
|
Definition
|
|
Term
| What term means the right to control access to information about oneself? |
|
Definition
|
|
Term
| What are nucleotides composed of? |
|
Definition
| one sugar, one phosphate, and a nitrogenous base |
|
|
Term
| Term meaning - formed by DNA wrapped around histones (small positively charged proteins) |
|
Definition
|
|
Term
| Which nitrogenous bases bond together? |
|
Definition
Adenine and Thymine
Cytosine and Guanine |
|
|
Term
| What determines the genome sequence? |
|
Definition
| The order of bases along a strand of DNA |
|
|
Term
| Term meaning - chromosome pieces whose particular bases (e.g., ATTCGGA) determine how, when, and where the body makes each of the many thousands of different proteins required for life? |
|
Definition
|
|
Term
| Term meaning - messenger RNA (mRNA) is synthesized from the DNA template |
|
Definition
|
|
Term
| Term meaning - mRNA links with tRNA within the ribosome to form polypeptides |
|
Definition
|
|
Term
| Where does translation occur? |
|
Definition
| cytoplasm of the ribosome |
|
|
Term
| Term meaning - Study of chromosomes – structure and their inheritance as applied to the practice of medicine? |
|
Definition
|
|
Term
| What is the most common method for visualizing chromosomes? |
|
Definition
| G-banding with Giemsa stain |
|
|
Term
| Term meaning - central centromere |
|
Definition
|
|
Term
| Term meaning - off center with arms of different lengths |
|
Definition
|
|
Term
| Term meaning - centromere is near one end |
|
Definition
|
|
Term
| How are chromosomes classified? |
|
Definition
| by the position of the centromere |
|
|
Term
| Describe what a p or q means? |
|
Definition
p = short arm ("P"-tite)
q = Long arm ("Q"uite long) |
|
|
Term
| Term meaning - abnormal number of chromosomes due to an extra or missing chromosome? |
|
Definition
|
|
Term
| Term meaning - only one of a particular chromosome |
|
Definition
|
|
Term
| Term meaning - three of a particular chromosome |
|
Definition
|
|
Term
| What are the two most common unbalanced structural rearrangements of chromosomes? |
|
Definition
|
|
Term
| What are the three common balanced structural rearrangements of chromosomes? |
|
Definition
| Inversion, translocation, insertion |
|
|
Term
| What is a Robertsonian translocation? |
|
Definition
| Two acrocentric chromosomes fuse |
|
|
Term
| Term meaning - Two complete cell lines with different genetics in one individual |
|
Definition
|
|
Term
| What is interesting about Prader-Willi and Angelman syndromes? |
|
Definition
Prader-Willi = Paternal
Angelman = Maternal |
|
|
Term
| What are the three major patterns of inheritance? |
|
Definition
| Chromosomal, single gene and complex (multifactorial) inheritance |
|
|
Term
| What are the most common types of chromosomal disorders? |
|
Definition
|
|
Term
| What is mendelian inheritance? |
|
Definition
|
|
Term
| What types of inheritance affect males and females equally? |
|
Definition
| Autosomal inheritance – whether dominant or recessive |
|
|
Term
| What type of inheritance affects males more often? Females more often? |
|
Definition
| X-linked inheritance – recessive; x-linked inheritance – dominant (most males don’t survive birth) |
|
|
Term
| What are some non-mendelian inheritance patterns? |
|
Definition
| Mitochondrial, Triplet Repeat Expansions, imprinting |
|
|
Term
| Term meaning - Interaction between genes and environmental factors |
|
Definition
|
|
Term
| What are some environmental factors? |
|
Definition
| Prenatal environment (alcohol, drugs, nutrition, thyroid, maternal stress), Nutrition, Environmental toxins,Teratogenic drugs |
|
|
Term
| What are the only trisomy disorders that are compatible with life? |
|
Definition
|
|
Term
| What is the only monosomy disorder compatible with life? |
|
Definition
|
|
Term
| What is the most common chromosomal disorder? What is the greatest risk factor? |
|
Definition
| Trisomy 21 – down’s syndrome, advanced maternal age |
|
|
Term
| What causes the phenotypical appearance in trisomy 21? |
|
Definition
| Overexpression of genes on the extra chromosome |
|
|
Term
| What are the common anomalies seen with chromosomal disorders? |
|
Definition
| Growth retardation, mental retardation and congenital anomalies |
|
|
Term
| Which diagnostic test for down syndrome has the lowest risk? The highest risk? |
|
Definition
Lowest risk = Amniocentesis
Highest risk = Percutaneous Umbilical Blood Sampling (PUBS) |
|
|
Term
| What is the confirmatory test for Down's Syndrome? |
|
Definition
| Percutaneous Umbilical Blood Sampling (PUBS) |
|
|
Term
| What is Trisomy 18? Which sex of pts are more affected? |
|
Definition
| Edwards syndrome; Females |
|
|
Term
| What congenital anomalies are seen in Patau syndrome? |
|
Definition
| severe central nervous system malformations, eye and ear deformities, cleft lip and palate |
|
|
Term
|
Definition
|
|
Term
| What is cri du chat syndrome? |
|
Definition
| Partial deletion of chromosome 5 – the severity of the disease relates to the severity of the deletion |
|
|
Term
| What gene is responsible for the sexual phenotype of an individual? |
|
Definition
| Gene SRY (sex-determining region on Y) determines the sexual phenotype |
|
|
Term
| What are also known as genome disorders? |
|
Definition
| Small deletions or duplications on certain chromosomes |
|
|
Term
| What is X-chromosome inactivation? |
|
Definition
| in somatic cells of normal females one of the X chromosome is inactivated early in developmen |
|
|
Term
| How is it determined which X will be inactivated? What is an inactive X called? |
|
Definition
|
|
Term
| What are the most common sex chromosome disorders? |
|
Definition
|
|
Term
| What is Klinefelters syndrome? |
|
Definition
|
|
Term
| What is Turner’s syndrome? |
|
Definition
Monosomy X, XO individuals are genetically female, however, they do not mature sexually during puberty and are sterile
In pediatrics |
|
|
Term
| What is the most common etiology of recessive disorders? |
|
Definition
| the mutation impairs or eliminates the function of an enzyme |
|
|
Term
| What is the recurrence risk for each sibling with autosomal recessive inheritance? |
|
Definition
|
|
Term
| What familial pattern is often seen in autosomal recessive inheritance? |
|
Definition
| Phenotype typically seen in siblings but not in parents or offspring |
|
|
Term
| What genetic condition is described as Iron overload causing fatigue, impotence, hyperpigmentation, diabetes, cirrhosis, cardiomyopathy? Which sex is MC affected? |
|
Definition
| Hemochromatosis; male pts |
|
|
Term
| What condition is described as Progressive pulmonary disease, exocrine pancreatic insufficiency, decreased male fertility, elevated sweat chloride concentration, and failure to thrive – autosomal recessive? |
|
Definition
|
|
Term
| What genetic condition is described as Lysosomal storage disease seen in Ashkenazi Jews, French Canadians, Louisiana Cajuns, and Pennsylvania Amish? |
|
Definition
|
|
Term
| What familial pedigree pattern is described as appearing in every generation with each affected patient having an affected parent? |
|
Definition
|
|
Term
| What is the risk to the child of inheriting an AD disorders? |
|
Definition
| A child has a 50% risk of inheriting from an affected parent |
|
|
Term
| What percentage of hyperlipidemia disorders are caused by familial hypercholesterolemia? |
|
Definition
|
|
Term
| What are the typical cholesterol levels in FH? |
|
Definition
| Cholesterol levels between 600 – 1000 |
|
|
Term
| How significant is the risk in heterozygous pts with FH? |
|
Definition
| Even heterozygotes have a high risk of coronary artery disease; Males 100% risk by age 70, Females 75% risk by age 70 |
|
|
Term
| What genetic d/o is described as progressive motor, cognitive, and psychiatric disorder? |
|
Definition
|
|
Term
| What type of mutation is seen in Huntington's Dz? |
|
Definition
| Mutation is a triple repeat expansion – the more repeats the more severe the disease |
|
|
Term
| What skin lesions are seen in neurofibromatosis? |
|
Definition
| Café au lait lesions, neurofibromas (lisch nodules) |
|
|
Term
| How is polycystic kidney disease inherited? |
|
Definition
| Autosomal dominant inheritance |
|
|
Term
| What is the most common form of dwarfism? |
|
Definition
|
|
Term
| Which type of genetic inheritance is described as Transmitted from affected male through his daughters to his grandsons who have a 50% chance of inheriting the disorder. Not transmitted from father to son? |
|
Definition
|
|
Term
| What disorders are associated with Muscular Dystrophy in carrier females? |
|
Definition
|
|
Term
| What clotting factor disorders are associated with hemophilia? |
|
Definition
| Hemophilia A and B are X-linked disorders of coagulation caused by mutations of F8 and F9 genes, F8 – deficiency/dysfunction of clotting factor VIII, F9 – deficiency/dysfunction of clotting factor IX |
|
|
Term
| What type of genetic disorder is described as affecting Males and causing mental retardation and some dysmorphic facies? |
|
Definition
|
|
Term
| What genetic disorder is described as affecting females, causing patients to lose any speech or motor development particularly purposeful hand movements? |
|
Definition
|
|
Term
| What principles of inheritance are seen with multifactorial (complex) inheritance? |
|
Definition
| Close relatives are more affected than distant relatives. Demonstrate familial aggregation due to common disease-predisposing alleles |
|
|
Term
| Which has a higher risk of venous thrombosis – factor V leiden or protein C deficiency? |
|
Definition
|
|
Term
| What genetic condition is most common in males and is described as congenital absence of parasympathetic ganglion cells in the colon? |
|
Definition
|
|
Term
| Which type of diabetes is more closely related to genetics as evidenced by family studies? |
|
Definition
|
|
Term
| What type of complications are seen in both types of diabetes? |
|
Definition
| Vascular disease in many organs – eyes, limbs, kidneys, heart, brain etc. |
|
|
Term
| What is the most common cause of dementia? |
|
Definition
|
|
Term
| What dz has classic characteristics including beta-amyloid plaques, neurofibrillary tangles and cortical atrophy? |
|
Definition
|
|
Term
| What is the risk if a first degree relative has AD? |
|
Definition
| Risk increases 3 to 4 times if a first degree relative has AD. 50% risk if MZ twin |
|
|
Term
| What mental illnesses have a high familial concordence? |
|
Definition
| Schizophrenia and bipolar disease |
|
|
Term
| Which CAD risk factors have genetic components? |
|
Definition
| Lipid metabolism, hypertension, coagulation disorders, inflammatory responses, arterial wall anatomy |
|
|
Term
| What environmental factors have been implicated in CAD? |
|
Definition
| High fat, high sodium diet, obesity, smoking, sedentary life style |
|
|
Term
| What neural tube defects are seen in families? |
|
Definition
| Anencephaly and spina bifida |
|
|
Term
| What has modified the incidence of NTDs? |
|
Definition
| The addition of folic acid to the diet of pregnant women |
|
|
Term
| What are the most common types of congenital cardiac defects? |
|
Definition
|
|
Term
| What type of inheritance pattern is seen with most cancers? |
|
Definition
| complex/multifactorial inheritance pattern – “runs in families” and expression is effected by environmental factors |
|
|
Term
| Which two types of genes are implicated in the pathogenesis of cancer? |
|
Definition
| Oncogenes and tumor suppressor genes |
|
|
Term
| What factors indicate an increased recurrence rate in complex inheritance? |
|
Definition
| more than one affected relative, Severe form of the disease, Early onset of the disease, Affected relative is the opposite sex of normal risk, Consanguineous parentage |
|
|
Term
| Does cancer often occur after one mutation or multiple mutations? |
|
Definition
| Usually multiple mutations are involved |
|
|
Term
| How may telomerase influence the pathogenesis of cancer? |
|
Definition
| Telomerase enables the cell to continue dividing |
|
|
Term
| Are most cancers somatic mutations or germline mutations? |
|
Definition
| Most are somatic mutations and occur sporadically |
|
|
Term
| How many genetic disorders does FL recommend for newborn screening? |
|
Definition
| 34 conditions and congenital hearing loss |
|
|
Term
| What is the most common type of genetic analysis performed? |
|
Definition
|
|
