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Definition
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Definition
| two different alleles (one dominant, one recessive) |
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Definition
| Transfer of genetic information from gene to the next generation. |
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Definition
| Genetic diversity at individual, population, and species level. |
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Definition
| Gene results in distribution of phenotypic values. |
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Definition
| percent of individuals that carry an autosomal dominant gene and are expressing the trait. |
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Definition
| Variable expression of autosomal dominant trait in affected individuals. |
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Definition
| production of given trait by different mutations at different loci. |
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Definition
| Multiple end effects of a single mutant gene. |
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Definition
| Multiple allelic forms of a single gene. |
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Definition
| Transmitted to progeny leading to hereditary diseases. |
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Definition
| Not transmitted to progeny and may lead to cancer or congenital malformations. |
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Definition
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Definition
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Definition
| Example of point mutation |
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Definition
| example of point mutation |
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Definition
| Does not result in frameshift. |
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Definition
| Example of three base deletion |
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Definition
| alters the reading frame and may result in early termination. |
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Term
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Definition
| example of lipid storage disorder from four base insertion in gene for Hexosaminidase A. |
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Term
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Definition
| combined effects of two or more mutant genes combined with environmental factors. |
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Definition
| transfer of one segment of chromosome to another |
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Definition
| one arm is lost and other is duplicated |
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Definition
| rearrangement associated with two breaks, inversion, and reincorporation of broken part |
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Definition
| deletion affecting both ends, fusion of the damaged ends |
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Term
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Definition
| expansion of a long repeating sequence of three nucleotides. |
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Term
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Definition
| X-linked disorder caused by triple repeat mutation within the 5'UTR of FMR-1 gene. |
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Term
| Leber hereditary optic neuropathy |
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Definition
| maternally inherited disorder caused by mutation in mitochondrial genes |
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Term
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Definition
| gene on maternal chromosome 15q12 is silenced and function is provided by paternal chromosome. This disease occurs when this paternal function is lost due to deletion. |
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Term
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Definition
| gene on paternal chromosome 15q12 is silenced and function is provided by maternal chromosome. This disease occurs when this maternal function is lost due to deletion. |
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Term
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Definition
| results from mutations that occur postzygotically during embryonic development. |
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Term
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Definition
| monosomy of X chromosome (45) |
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Term
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Definition
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Term
| Postnatal cytogenetic analysis |
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Definition
| cytogenetic analysis performed on peripheral blood lymphocytes |
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Term
| Prenatal cytogenetic analysis |
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Definition
| cytogenetic analysis performed by amniocentesis or chorionic villi biopsy |
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Term
| Fluorescence in Situ Hybridization (FISH) |
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Definition
| DNA probes specifically recognize chromosome and are labeled with fluorescent dye wills hybridize to interphase nuclei at complementary sequence. |
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Term
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Definition
| Entire chromosome is labeled with series of fluorescent probes and these will bind to multiple sites on chromosome. |
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Term
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Definition
| involved detection of the mutant gene based on identifying qualitative differences in DNA sequences using restriction sites. |
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Term
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Definition
| Also known as Gene Tracking, involves detection of linkage of the disease gene with a harmless marker gene. |
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Term
| Oligonucleotide probe analysis |
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Definition
| used when point mutation producing abnormal gene does not alter any known restriction site. Involves hybridizing short sequences of nucleotides to both normal and abnormal to test the strength of hybridization. Strong- normal gene, weak- abnormal gene |
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Definition
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Definition
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Definition
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Term
| Fetal factors for Intrauterine Growth Retardation |
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Definition
| chromosomal disorders, congenital anomalies, congenital infections |
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Term
| Placental factors for Intrauterine Growth Retardation |
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Definition
| Abruptio placentae, placenta previa, placental thrombosis, placental infections, umbilical-placental vascular anomalies, multiple gestations, confined placental mosaicism |
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Term
| Maternal factors for Intrauterine Growth Retardation |
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Definition
| toxemia of pregnancy, chronic hypertension, nutritional status, maternal narcotic abuse, alcohol intake, heavy cigarette smoking, intake of certain drugs |
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Term
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Definition
| Do not fully develop until 36 weeks. Immaturity can result in thick-walled alveolar septa that cause separation of the vascular supply from alveolar spaces, hindering oxygenation |
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Term
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Definition
| results in primitive glomeruli and tubules present in subcapsular zone, however deeper glomeruli and tubules are well fromed and function adequately. |
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Term
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Definition
| external surface of brain is relatively smooth with absent convolutions. Poor demarcation of white and gray matter structures. cell migration and myelination are incomplete, so the brain is soft and gelatinous. |
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Term
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Definition
| Large relative to the size of the preterm infant. Extramedullary hematopoisis (blood cellular components occur outside of medulla of bone) is present. |
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Definition
| increase in intracranial pressure, damage to brain substances, and herniation of the medulla. |
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Term
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Definition
| accumulation of interstitial fluid in the soft tissue of the scalp resulting in circular area of edema |
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Term
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Definition
Error in morphogenesis that are intrinsic abnormalities that occur early in fetal development and may involve single or multiple organ systems.
Ex. Congenital heart defects, anencephaly |
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Term
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Definition
| Error in morphogenesis that arises late in fetal life due to influence of mechanical factors. Usually in shape, form, or position of the body. |
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Term
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Definition
Error in morphogenesis that result from secondary destruction or interference with an organ or body region that was previously normal in development.
Ex. Amniotic Bands |
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Term
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Definition
| Type of disruption that can occur to fetus when amnion ruptures without injury to chorion, exposing the baby to fibrous sticky tissue and causing abnormalities. |
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Term
| Sequence (Error of morphogenesis) |
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Definition
series of muliple congenital anomalies resulting from a single localized aberration in organogenesis leading to secondary effects to other organs.
Ex. oligohydramnios (decreased amniotic fluid) |
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Term
| Syndrome (Error of morphogenesis) |
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Definition
| several defects are present that are thought to be pathogenetically related. |
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Term
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Definition
| complete absence of an organ and its associated primordium (earliest recognizable stage of organ) |
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Term
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Definition
| Absence of an organ because of failure of the developmental anlage to develop. |
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Term
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Definition
| Absence of an opening, usually of a hollow visceral organ, such as the trachea or intestine. |
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Term
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Definition
| Incomplete development or underdevelopment of an organ, with decreased number of cells. |
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Term
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Definition
| Overdevelopment of an organ associated with increased numbers of cells. |
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Term
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Definition
| Increa in organ size or function related to an increase in the size of individual cells. |
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Term
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Definition
| Decrease in organ size or function that related to a decrease in the size of individual cells. |
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Term
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Definition
| Abnormal organization of individual cells. |
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Term
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Definition
| fetal infection usually in second trimester that affects the Central Nervous System and results in mental retardation, microcephaly, and deafness. |
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Term
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Definition
| Fetal infection before 16 weeks gestation resulting in cataracts, heart defects and deafness. |
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Term
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Definition
| Sleeping aid from 1950's given as antiemetic for morning sickness. Found later to be an angiogenesis inhibitor. |
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Term
| 13-cis-retinoic acid (Accutane) |
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Definition
| Acne drug that binds to cytosolic building proteins and transports them to nucleus then reacts with retinoic acid receptors causing over-expression in heart development. |
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Term
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Definition
May be due to left-to-right shunting of blood in heart due to ASD or VSD causing volume overload in right atrium and right ventricle leading to to pulmonary hypertension.
May also be due to pulmonary stenosis, narrowing of of the pulmonary valve, and aortic stenosis. |
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Term
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Definition
| Patient appears blue because there is diminished pulmonary blood flow and poorly oxygenated blood enters the systemic circulation. Due to right-to-left shunt. |
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Term
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Definition
Involves four different heart malformations:
1. Ventricular septal defect (VSD)
2. pulmonary trunk stenosis (narrowing)
3. Right ventricle is more muscular than normal
4. Aorta is positioned over the VSD instead of left ventricle. |
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Term
| Incidence of Infant Respiratory Distress Syndrome |
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Definition
60% incidence in infants born less than 28 weeks gestation.
<5% incidence in infants born at greater than 37 weeks gestation. |
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Term
| Causes of Infant Respiratory Distress Syndrome |
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Definition
-Aspiration during birth of blood and amniotic fluid
-Brain injury with failure of central respiratory centers
-asphyxiating coils of umbilical cord around the neck of infant
-Excessive maternal sedation
-Idiopathic RDS (hyaline membrane disease) |
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Term
| Pathogenesis of Infant Respiratory Distress Syndrome |
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Definition
| Decreased surfactant results in increased alveolar surface tension with progressive atelectasis (lack of gas exchange) of alveoli and a higher inspiratory pressure required to expand the alveolus. Plasma leaks into alveolus and combine with fibrin and necrotic alveolar pneumocytes to form hyaline membranes. |
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Term
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Definition
| Form when plasma leaks into alveolus and combines with fibrin and pneumocytes and fill air spaces and block gas exchange, causing more hypoxemia |
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Term
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Definition
| Hemolytic disease of the newborn due to antibodies from the mother attacking fetus's RBC. |
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Term
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Definition
| Erythroblastosis Fetalis limited to babies with A or B antigens whose mothers have type O blood. |
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Term
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Definition
| Erythroblastosis Fetalis which occurs in babies with RBC's having the Rh antigen (Rh +), and mother who do not have the Rh antigen (Rh -). |
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Term
| Cause of Erythroblastosis Fetalis |
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Definition
| Antibodies are formed after delivery of first child to child's RBC antigens. Rh + antigens can cross the placenta during the next pregnancy and destroy the fetus' RBC. |
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Term
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Definition
| Mutation to the phenylalanine hydroxylase gene cause deficiencies in the enzyme that converts phenylalanine to tyrosine. |
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Term
| benign hyperphenylalaniemia |
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Definition
| Only partial deficiency of phenylalanine hydroxylase therefore the patients do not suffer neurologic disorder. |
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Term
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Definition
| Mutations to the CFTR (Cystic fibrosis transmembrane conductance regulator) protein serves as a chloride channel. Leads to increased water reabsorption from lumen, dehydration of the mucus layer, and ultimately accumulation of hyperconcentrated, viscid secretions that obstruct the airways. |
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Term
| CFTR (Cystic fibrosis transmembrane conductance regulator) structure |
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Definition
| Two transmembrane domains, two nucleotide-binding domains, and a regulatory domain (R-domain)with protein kinase phosphorylation sites. |
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Term
| CFTR (Cystic fibrosis transmembrane conductance regulator) mechanism |
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Definition
| Aceylcholine binds, increases cAMP, activates PKA which phosphorylates CFTR, leading to opening Cl- channels. |
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Term
| Cystic Fibrosis Classification |
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Definition
Class I: defective protein synthesis - lack of CFTR at surface.
Class II: abnormal protein folding, processing, and trafficking - degraded before reaching surface.
Class III: defective regulation - prevent activation of CFTR by ATP hydrolysis.
Class IV: Decrease conductance - mutation in TM regions of CFTR leading to reduced function with normal expression.
Class V: Reduced abundance - mutations in intronic splice sites decrease protein expression.
Class VI: Altered regulation of separate ion channels. |
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Term
| Sudden Infant Death Syndrome (SIDS) |
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Definition
| The sudden death of an infant under 1. |
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Term
| Neuroblastic tumors (Neuroblastoma) |
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Definition
| tumors arise in the adrenal medulla or various ganglia. |
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Term
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Definition
| Between ages 2 and 5. Nephroblastoma, tumor of the kidney associated with deletion of WT-1 or WT-2 gene. |
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Term
| Two basic components of all tumors |
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Definition
1. Proliferating neoplastic cells (parenchymal)
2. Supporting stroma |
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Term
| Four characteristics of neoplasms |
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Definition
1. Differentiation and anaplasia
2. Rate of growth
3. Local invasion
4. Metastasis |
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Term
| Differentiation of tumor cells |
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Definition
Extent to which tumor cells resemble comparable normal cells.
-benign tumors closely resemble (high differentiation)
-malignant tumors are less well differentiated. |
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Term
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Definition
Lack of differentiation
Malignant tumors |
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Term
| Cytologic features that characterize anaplastic tumors |
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Definition
-Nuclear and cellular pleomorphism-wide variety in shape and size
-hyperchromatism- prominent nucleoli
-Nuclear-cytoplasm ratio- enlargement of nuclei
-abundant mitoses
-tumor giant cells
-loss of polarity |
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Term
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Definition
| refers to disorderly but non-neoplastic growth |
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Term
| Three categories of Hereditary forms of cancers |
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Definition
1. Inherited cancer syndromes
2. Familial cancers
3. Autosomal recessive syndromes of defective DNA repair |
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Term
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Definition
-cirrhosis of the liver-hepatocellular carcinoma
-atrophic gastritis of pernicous anemia-stomach cancer
-chronic ulcerative colitis-carcinoma of the colon
-leukoplakia of the oral and genital mucosa-squamous cell cancers
-solar keratosis of the skin |
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Term
| Four classes of genes where mutations cause cancer. |
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Definition
1. Growth-promoting protooncogenes
2. Growth-inhibiting tumor-suppressor genes
3. Genes that regulate apoptosis
4. Genes that regulate DNA repair |
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Term
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Definition
The attributes of malignancy are acquired in a stepwise fashion.
Also called Tumor progression |
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Term
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Definition
| genes whose products are associated with neoplastic transformation or play a role in tumor progression. |
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Term
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Definition
| Normal cellular genes that affect growth and differentiation. They become oncogenes when mutated. |
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Term
| Products of protooncogenes |
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Definition
Growth factors
Growth factor receptors
Signal-transducing proteins
Nuclear Transcription proteins
Cyclins and cyclin-dependent kinases (CDK) |
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Term
| Cyclins and cyclin-dependent kinases |
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Definition
| regulate the progression of cells through the cell cycle. |
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Term
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Definition
| facilitate the transistion from G1 to S phase of the cell cycle by activating CDK4 and CDK6. These CDK's phosphorylate retinoblastoma protein (pRB) which in turn releases E2F transcription factors for S-phase proteins. |
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Term
| Three mechanisms that convert protooncogenes to oncogenes |
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Definition
1. Point mutations
2. Chromosomal rearrangements
3. Gene amplification |
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Term
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Definition
functions in cell cycle regulation
Somatic mutations cause:Retinoblastoma, Osteoscarcoma, Breast, Colon and Lung Cancers
Inherited mutations cause: Retinoblastomas and Osteosarcomas |
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Term
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Definition
Functions in cell cycle regulation and Apoptosis in response to DNA damage.
Somatic mutations cause: Most human cancers
Inherited mutations cause: Various carcinomas and sarcomas |
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Term
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Definition
Functions in Transcription
Somatic mutations cause: Wilms Tumor
Inherited mutations cause: Wilms Tumor |
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Term
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Definition
Tumor suppressor
Inherited mutations cause: Breast and Ovarian cancer |
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Term
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Definition
Tumor suppressor
Inherited mutations cause: Breast Cancer |
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Term
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Definition
Functions in Cell Cycle Regulation
Somatic mutations cause: Pancreatic and Esophageal cancers
Inherited mutations cause: Malignant melanoma |
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Term
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Definition
DNA mismatch repair gene
can cause ALL cancers |
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Term
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Definition
Functions in cell growth inhibition
Somatic mutations cause: colon cancer
Inherited mutations cause: unknown |
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Term
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Definition
Functions in cell adhesion
Somatic mutations cause: Stomach and Breast cancer
Inherited mutations cause: Gastric cancer |
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Term
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Definition
Regulates RAS pathway of signal transduction, mutated version stays in GTP-bound state and continually signals to divide.
Somatic mutations cause: Schwannomas and Meningiomas
Inherited mutations cause: Schwannomas and Meningiomas |
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Term
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Definition
Control apoptosis by regulating the exit of cyrochrome c from the mitochondria which activates proteolytic enzyme caspase 9. Overexpression extends cell survival
Ex. B-cell lymphomas |
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Term
| Three variables that influence the kinetics of tumor cell growth |
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Definition
1. Doubling time of tumor cells
2. Growth fraction - amt of cells in reproductive phase
3. Cell production and loss imbalance |
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Term
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Definition
1. Vascular endothelial growth factors (VEGF)
2. Basic fibroblast growth factor (bFGF) |
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Term
| Four steps in Invasion of Extracellullar Matrix |
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Definition
1. Detachment of tumor cells from each other
2. Attachment to matrix components
3. Degradation of extracellular matrix
Migration of tumor cells |
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Term
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Definition
| Loss of body fat, wasting, and profound weakness |
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Term
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Definition
| Symptoms not directly related to the spread of the tumor. Earliest clinical manifestations of a neoplasm and may mimic distant spread. |
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Term
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Definition
| Semi-quantitative estimate of gravity of tumor based on degree of differentiation and the number of mitoses within the tumor. |
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Term
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Definition
| Based on the anatomic extent of the tumor. Size of primary tumor and extent of local and distant spread. |
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Term
| Five ways that cancer cells escape detection and killing |
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Definition
1. Drug resistance
2. Expresses immune cell inhibitors
3. Resistant to apoptosis even due to chemotherapy
4. Normal tissue specific gene expression is lost
5. Limited access |
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Term
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Definition
| colonization of the human host |
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Term
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Definition
| Establishment of a long term harmless relationship between host and the bacteria |
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Term
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Definition
| Infections that result in pathology |
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Term
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Definition
| Microbe that can cause disease to host |
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Term
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Definition
| relative capacity of a pathogen to cause disease |
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