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7-Congenital/Genetic

Pathophysiology

QuestionAnswer
Genetic information for each cell is stored on chromosomes
Chromosomes 23 pairs in each human cell
Autosomes 22 pairs in each human cell
Autosomes are numbered when arranged by size et shape in a diagnostic graphic karyotype
23rd pair consists of a pair of sex chromosomes (XY or XX)
Sperm et ovum receive only 23 chromosomes (one chromosome from each pair) meiosis
Considered a unique identifying characteristic for an individual DNA
Chromosomes are made up of many genes et are matched for a function at a specific location on the paired chromosome allele
DNA "file" that contains info about protein synthesis in the cell gene
All cells in an indvidual's body contain the same ________ et ________ for the same traits although not all genes are active in each cell. chromosomes/genes (genotype)
Limited activity, related to the cell's specific function gene expression
Genes are composed of ______ _______ which dtermine the function of all cells in the body. DNA strands
Provides the communication link with DNA during the actuall synthesis of proteins andhelps to maintain control of cell activity RNA
Chromosomes replicate et each daughter cell receives a copy of DNA identical to that in the parent cell (occurs during embryonic et fetal development) mitosis
Some DNA sequences act as _____ for gene activity, whereas other sequences have unknown functions et have been termed "_____ ____." regulators/junk DNA
Repeats of base pairs in junk DNA identified as abnormalities leading to disease
Changes can occur because of an error in _____ or ______, but are rare. meiosis or mitosis
alteration in genetic material may be spontaneous of may result from exposure to harmful substances such as radiation, chemicals or drugs mutation
HGP Human Genome Project
Disorders prsent at birth congenital anomalies
congenital anomalies include genetic of inherited disorders as well as developmental disorders
may result from a single-gene trait or from a chromosomal defect, o they may be multifactorial genetic disorder
caused by a change in one gene within the repoductive cells (ove or sperm) single-gene disorders
Mutant gene is transimitted to the subsequent generations following the specific ________ _________ for that gene inheritance pattern
Mutations in the body cells other than the repoductive cells may cause ________ but are not _______ to offspring dysfunction/transmitted
Effect of an altered gene expression or phenotype
result from an error during meiosis, when the DNA fragments are displaced or lost, thus altering genetic info (Down Syndrome) Chromosomal anomalies
during meiosis, genes are often redistributed in which chromosomes may swap portions crossover
may be an error in chromosomal duplication or reassembly resulting in an abnormal placement of part of the chromosome translocation
altered structure of the chromosome deletion
Premature birth congenital or developmental disorders can occur
difficult labor et delivery congential or developmental disorders can occur
exposure to damaging agent during fetal development congential or developmental disorders can occur
may be spontaneous errors or may result form exposure to environmental factors in utero developmental defects
DNA of embryonic cells may be altered easily et differentiation take place during the first months of embryonic development rapid mitosis
Replication of DNA occurs during the first month and the possibilty of damage during this period is significant
maternal nutrition may affect developing embryo's genetic makeup
Teratogenic agent agents that cause damage during embyronic or fetal development
caused by multiple genes polygenic
both parents must pass on defective gene to produce an affected child autosomal recessive disorder
Male and female are affected equally autosomal recessive disorder
one normal gene et one disease gene heterozygous
two disease genes homozygous
Carrier heterozygous individual, that shows no clinical sign of disease
Heterozygous Parents= 25% unaffected genotype 50% born with the carrier genotype 25% born with the affected or disease genotype
Only one parent w/ recessive gene 50% born with carrier genotype 50% having unaffected genotype
toxic metabolites accumulate inside cells or in the blood and tissues, interfering with cell function and possibly causing cell death enzyme defect
incomplete dominant heterozygotes may display some clinical signs whereas homozygotes show the full range of expression
presence of the defect in only one of the alleles produces clinical expression of the disease autosomal dominant disorders
Affected parent in re: to autosomal dominant 50% chance of passing the disorder on to each child regardless of the gender of the child
No carriers et unaffected persons do not transmit the disorder autosomal dominant disorder
most common cause of mental retardation, cognitive deficit et learning disorders in North America Fragile X syndrome
Mutation responsible for _____________ is inherited as a dominant allele carried on the ___________ chromosome fragile X syndrome/X
Alleles for the sex-linked recessive disorders are usually carried by the ___ chromosome X
genes are recessive but are manifested in heterozygous males who lack the matching normal gene on the Y chromosome X-linked disorders
Females are carriers (without clinical signs) when they are heterozygous x-linked disorders
X-linked carrier females 50% chance of producing an affected male child and an equal chance of producing a carrier female chiled in each pregnancy
X-linked affected male WILL transmit the defect to all of his daughters, who will then become carriers; sons will neither be affected nor be carriers.
Males pass only the normal ____ chromosome to his sons Y
Three chromosomes rahter than two in the 21 position trisomy 21 or down syndrome
only one sex chromosome, the X chromosome, is present monosomy X or turner syndrome
extra X chromosome is present (XXY) polysomy X or Klinefelter
invloves a number of genes or genetic influences combined with environmental factors multifactorial disorders
developmental abnormality anomaly
extraction of amniotic fluid from the uterus et extraction of a sample of the chorionic villus of the fetus amniocentesis
can be tested approximately 48 hours after birth using blood from a heel prick neonates
laboratory practices of manipulating genes in microorganisms, plants, animals and humans; genes may be altered by changing the sequence of DNA by rearrangement, deletion or substitution genetic engineering
ultimate goal is to remove a defective gene and supply a normal one so as to eliminate genetic defects gene manipulation
involves the introduction of normal genes into living target cells. sometimes by means of a harmless virus or bacterium, thus changing the cell activity or replacing missing genes gene therapy
SCID severe combined immunodeficiency disease
stives to characterize all of the proteins that are significant in the metabolic pathway for expression of a particular allele proteomics
drugs developed for your own specific metabolic pathway, individual genotypes designer drugs
conditions that are present in an individual at birth but are not necessarily manifested until later in life congenital disorders
inherited genetic disorders and developmental defects resulting from damage to the child in utero or at birth congenital disorders
consequences of changes in the genes that make up the 23 pairs of chromosomes in each human cell genetic disorders
DNA file that controls one or more aspects of cellular activity gene
science of identifying the proteins associated with the expression of a particular gene so as to design drugs to replace absent proteins or inhibit damaging proteins proteomics
common patterns of inheritance of single gene disorders are classified as: recessive or X-linked recessive, dominant or X-linked dominant
Probability of inheritance can be prediced using this; same probability exists with each pregnancy Punnett square
involve an abnormal distribution of the chromosomes or dislocation of a part or loss of a chromosome chromosomal disorders
demonstrates the arrangement of the chromosomes from an individual's cell karyotype
caused by damage to one or more body structures during embryonic or fetal development, during labor and delivery, or shortly after birth developmental disorders
most vulnerable period is the embryonic stage during this: organogenesis
result from a combination of genetic predisposition and exposure to certain environmental factors multifactorial disorders
available for carriers of specific genetic disorders screening programs
may detect certain developmental defects in the fetus ultrasonography et aminocentesis
assists in determining the risk of such and occurrence, justifying the testing procedure and genetic counseling family pedigree
sample of a disorder affecting many body components down syndrome
found in most systems and include physical appearnace, skeletal structure et intellectual development abnormalities of down syndrome
T/F DNA is the template for its own replication in re: to central dogma of biology True
T/F DNA is the template for the transcription of RNA (central dogma) True
T/F RNA can be used by some viruses to make DNA by reverse transcription (central dogma) True (some viruses can do transcription)
T/F RNA is the template for the sunthesis of protein (central dogma) True
T/F DNA is the direct template for the translation of proteins (central dogma) False
Spontaneous mutations in DNA... occur during the normal replication process can sometimes lead to changes in portein structure and function can be either somatic or germ like mutations
mRNA is transcribed from the _______ strand of the DNA and has the same sequence as the _______ strand. template, non-template
Central dogma DNA--->Tc-->RNA--->Tl-->Protein
Proteins are made in the cytoplasm by ribsomes
one feature of the genetic code is that it is ________. The units of meaning are called _______. triplet, codon
Proteins come in many different shapes and sizes. The function of each protein aligns with its structure. The first level of protein structure is... the chain of amino acids
The second level of protein folding is often either an alpha-helix or a beta-pleated sheet. These structures are formed by ________ bonds. hydrogen
When two or more polypeptides must be joined together to form an active protein, this is called _________ structure. quaternary
The rate of live human births with genetic disorders is between... 1 et 3 percent
A_________is the arrangement of human chromosomes from largest to smallest. Karyotype
Diseases that display an autosomal recessive phenotype are common when marriages are consanguineous
the link between a mutation in the DNA in the gene for hemoglobin et the development of the disease sickle cell anemia 1. mutation in DNA 2. small change in DNA 3. change in amino acids 4. folds incorrectly 5. functions improperly
A 40 year old man with coronary artery disease (CAD) asks the doctor why he would develp heart disease at such a young age. In addition to his history of smoking (he started at age 16). May also have inherited the risk for coronary disase from a parent. This patient has a multifactorial inherited disease caused by both genetic et environmental factors
What percent of live human births have medical disorders/"congenital disorders"? 5%
Stores DNA info nucleus
the set of genes carried by an individual genome
the fundamental physical unit of heredity; a piece of DNA that allows the transcription of an RNA molecule gene
the form of the gene allele
the specific genetic consititution of an organism; what set of alleles are present in an individual genotype
the expression of the genoype phenotype
a DNA molecule packaged in protein; genes are on these chromosome
the absence of health disease
genes present in the egg or the sperm or both are mutated so that every cell in the body of the offspring have the mutated allele forms heritable condition
once ell of the organism incurred a mutation (or several mutations) due to spontaneous replication errors or exposure to mutagens; this cell then replicates without control forming a tumor non-heritable condition
heritable et non-heritable conditions genetic disease
a region of DNA that contains info for synthesis of a protein gene
two different alleles heterozygous
two like alleles homozygous
23 pairs of chromosomes human genome
important for chorionic/amniotic fetus karyotype analysis
22 pairs autosomes
extra chromsome on #21 down syndrome
homogenetic sex female (XX)
heterogenetic sex male (XY)
diploid/2n spermatogonium/oogonium (46 chromosomes)
divides to create sperm et eggs meiosis (which makes them haploid)
sperm et eggs combine to form... a zygote/2n
complementary base pairs A=T et G=C
order of bases changed due to enzyme malfunction mutation
randomly happens spontaneous
environment that induces mutations at a higher rate induced
RNA copy is _____ stranded single
beginning point promoter
stopping point terminator
during transcription base A is converted to ____ U
used to make proteins RNA
strands of amino acids proteins
catalyze chemical reaction enzymes
transport oxygen hemoglobin
attach to cancer cells et aid immune system immunoglobulins IgG
provide protection keratin
four bases allow us to encode for _____ different amino acids 20
first level of protein folding secondary stucture
protein become globular tertiary structure
more than one polypeptide together quaternary structure
can be completely silent et positive mutations
gene for __________ is on an a autosome not X or Y hemoglobin
long chain of protein distorts shape of cell; causing capillaries to break which leads to hemorrhaging causing O2 not t be delivered to brain/muscles sickle cell anemia
many affects pieiotopism
color vision is located on what chromosome? X
do not go from father to son (it will only be passed on to daughters) x-linked genes
turn off an X in every cell lyonization
when the X chromosome is turned off barbodies
relation mating (common ancestors) consangunity
classic sign of recessive trait is when a ___________ skipped generation
can be random expressivity
drugs can induce_______ expressivity
dominance can be ______ (inherit gene but do not show it) impenetrant
example of Codominance AB bloodtype
small change in DNA-->change in AA inserted into protein-->protein folds incorrectly-->functions improperly-->disease point mutations
top four multifactorial diseases lung, breast, prostate et colon cancer
a genetic disease characterized by the interplay of oncogenes et tumor suppressor genes leading to the uncontrolled growth of cells cancer
stimulate cancer 6 to ten genetic changes/cell
increased risk for cancer than those with normal genes predisposed
polyps, warts, dysplasia pre-cancerious
genes that can cause the development of cancer; when mutated they cause cancer oncogene
study of cancer oncology
cABL codes for protein kinase, important for mitosis to occur
oncogenes are _________ dominant autosomal
________ of oncogenes causes hyperactivity which creates large amounts of cells mutation
these genes turn mitosis "off" tumor suppressor genes
tumor suppressor genes are _________recessive autosomal
predisposed=chromosome deletion ;)
code for genes that will deregulate the growth of the cells that they infect et therefore potentiate cancer viruses
using molecular information to lessen side effects/drugs for individuals;personaling meds pharmacogenomics
study of how a person's genetic inheritance affects the body's response to drugs. Uses DNA and AA sequencing to create new drugs that work at molecular level to preven/treat disease pharmacogenomics
absent of greatly reduce ability to clear or activate drug poor metabolizer PM
heterozygotes for both normal and reduced activity genes intermediate metabolizer IM
the norm extensive metabolizer EM
greatly increased activity that accelerates clearance of increases activation rapid metabolizer RM/UM
added to standard breast cancer treatment to improve prognosis et reduces risks of recurrence herceptin
What percent have a congenital disorder that is genetic? 5%
Store DNA info Nucleus
a region of DNA that contains info for synthesis of a protein Gene
two different forms located in the same place allele
what exactly do you have, form-wise, to your genetic makeup? genotype
is important for chorionic/amniotic fetus karyotype analysis
homogenetic sex XX female
heterogenetic sex XY male
2n- spermatogonium/oogonium diploid
divides to create sperm et eggs (haploid) meiosis
zygote, DNA expressed different in different cells->transcription->RNA, copy of DNA->translation->protein, expression information et do work of the cell central dogma
copy of NA (RNA) is the ____________ of protein synthesis
A-T et C-G complementary base pairs
order of bases changed due to enzyme malfunction which can be sspontaneous or induced mutation
just randomy happens spontaneous
environment that induces mutation at a higer rate induced
somatic mutations are not ________ genetic
examples of germ line/genetic mutations sickle cell anemia, retinal blastoma
DNA is its __________ for its own _________ template, synthesis
RNA copy is ________ stranded single
beginning point during transcription promoter
stopping point during transcription terminator
during transcription, adenine is converted to what? uracil
enzymes are ___________ proteins
RNA is used to make ________, which are strands of _________ __________ proteins, amino acids
these catalyze chemical reactions enzymes
example of enzymes kinase, amylase, ligase
enzyme in saliva, breaksdown starch amylase
enzyme that allows 2 pieces of DNA to attach to one another ligase
transport oxygen in body Hemoglobin
attach to cancer cells et aid immune system Immunoglobulins (IgG)
body uses as protection keratin
how many genes work together to make 100,000 different proteins? 25,000 different genes
4 complementary bases allows us to encode for _____ different amino acids 20
these can go in any order et can be as long as we want amino acids
first level of folding of a protein structure secondary structure
protein structure becomes globular tertiary structure
more than one polypeptide together in protein structure quarternary structure
stand of amindo acid in protein structure primary structure
alpha helix, beta folds secondary structure
HbA/pos #6->amino acid is glutamic acid (hydrophillic)->mutation from G to A->amino acid valine (hydrophobic)->changes of folding pattern of hemoglobin->causes......... sickle cell anemia
these can be completely silent et can be positive mutations
needs to have 2 recessive alleles autosomal recessive
gene for ______ is on an autosome, not on the X or Y hemoglobin
no functional Hg=what disease? Sickle cell anemia
long chain of protein distorts shape of cel, causing capillaries to break which leads to hemorrhaging causing oxygen no to be delivered to brain muscles sickle cell anemia
terminology for many affects in genetics pieotropism
Huntingtons, ALS, dwarfism, polydactly, retinoblastoma, BRCA1 et BRCA2 autsomal dominant biochemistry
cystic fibrosis (CF), sickle cell, tay-sachs, PKU autosomal recessive biochemistry
mutated form will dominate over the normal autsomal recessive
athlete who had ALS Lou Gouehrig
with ALS, protein prevents damage to _________ (super oxide) DNA
percent of sporadic form of ALS 90%
percent of familial form of ALS 10%
defect in the gene that encodes superoxide dismutase 1 ALS
SOD1 superoxide dismutase 1
if this becomes weaker, it causes gray hair superoxide
Used interchangeable with phenotype characteristcs
every organism has ___ copies 2
color vision is located on __ chromosome X
these genes do not go from father to son (It will only be passed to daughters) X-linked
dosage compensation helps turn off an X in evry cell lyonization
when the X chromosome is truned off barr body
Do females really need both X's? Yes et No. Yes, due to Turner Syndrome. No, because we can turn one off for the most part.
Hemphillia, Duchenne's Muscular Dystrophy, red-green color blindness X-linked characteristics
clotting factor 8 problem hemophillia
protein dystrophen Duchenne's muscular dystrophy
a tool for human disease study pedigree analysis
Medication medthod for discovering disease in genes infamilies pedigree analysis
controlled matings not possible, long generation times, et small family sz pedigree analysis
extended family tree based on a single genetic characteristic (or occasional several genetic characteristics) pedigree
White box, not filled in on pedigree unaffected person
colored in box on pedigree person affected with trait
white box, with dot in center on pedigree obligate carrier (carries the gene by does not have the trait)
white box, with a number in the middle on pedigree multiple persons affected
white box with diagonal line through it on pedigree deceased person
small dot or triangle on pedigree miscarriage
First came into clincial diagnosis proband
white box with question mark in the center on pedigree adoption
relation mating or common ancestors in pedigree consanguinity
Classic sign of ________ trait is that a generation is skipped recessive
these can show/express recessive traits consanguinious
sometimes ________ traits can be affected by environment but not be soon dominant
these can be random on genese expressivity
these can induce expressivity drugs
can be impenetrant, you can inherit gene but do not show it dominance
if a characteristic is passed from father to son Y-linked characteristic
this can be incomplete, carriers can have symptoms but not genetically diagnosed dominance
example of codominance AB bloodtype
sm chg in DNA->chg in AA inserted into protein->protein folds incorrectly->functions improperly->disease Genetic disease
down syndrome (trisomy 21), edward syndrome (trisomy 18), patau sydrome (trisomy 13), XO, Turner Syndrome, XXY kleinfelter syndrome, whole chromosomal changes
autosomeal recessive (CF, sickle cell anemia), huntington disease (autosomal dominant), et X-linked point mutations on chromosome
cri du Chat part of chromosomes
the set of genes carried by an individual genome
the fundamental physical unit of heredity, a piece of DNA that allows the transcription of an RNA molecule gene
the form of the gene, for example you could have an allele for tongue rolling of one that does not allow this function allele
the specific geneitc constitution of an organmism, what set of alleles are present in an individual phenotype
a DNA molecule packaged in protein, genes are on chromosomes chromosome
the absence of health disease
genese present in the egg or the sperm or both are mutated so that every cell in the body of the offspring have the mutated allele forms heritable condition (CF or sickle cell anemia)
on cell of the organism incurred a mutation or several mutations, due to spontaneous replication errors or exposure to mutagens (UV light or asbestos): this cell then replicates without control forming a tumor non-heritable condition (cancer)
DNA is the template for its own replication, DNA is template for the transcription of RNA, RNA can be used by some viruses to make DNA by reverse transcription, et RNA is the template for the synthesis of protein true about the central dogma
DNA is the direct template for the translation of protein false about the central dogma
occur during the normal replication process, can sometimes lead to changeds in protein structure et function, can be either somatic or germ line mutations all are spontaneous mutations in DNA
mRNA is transcribed from the ________ strand of the DNA et has the same sequence as the ____________ strand template, non-template
3' used to make RNA template
5' non-template created from mRNA
proteins are made in the cytoplasm of cells by.... ribsomes
these translate proteins ribsomes
one feature of the genetic code is that it is________; the units of meaning are called ______ triplet, codon
proteins come in many different shapes et sizes; the function of each prtein aligns with its structure; the first level of protein structure is: the chain of amino acids
the second level of protein folding is often either an alpha-helix or beta-pleated sheet; these structures are formed by _______ bonds hydrogen
when two or more polypeptides must be joined together to form an active protein, this is called ____________ stucture quarternary
short essay to show the link between a mutation in the DNA in the gene for Hg et the development of the disease sickel cell ademia 1. mutations in DNA 2. small change in DNA 3. change in AA 4. folds incorrectly 5. functions improperly
the rate of live human births with genetic disorders is between; 1 to 3 percent
a ________ is the arrangement of human chromosomes from largest to smallest karyotype
diseases that display an autosomal recessive phenotype are common when marriages are consanguineous
show up in half of the offspring in a family dominant=1/2, every generation
1/4 et skips a generation recessive
second leading cause of mental retardation fragile-x syndrome
relatively constant or stable internal environment is maintained witin the body with regard to BP, body temperature et fluid balance homeostasis
disease develops when sifnifican changes occur in the body leading to a state in which homeostasis cannot be maintained without intervention need to understand homeostasis because pahto studies the physiologic changes in the body that result from the disease process
decrease in the size of cells, resulting in a reduced tissed mass atrophy
increase in the size of individual cells, resulting in an enlarged tissue mass hypertrophy
increased number of cells resulting in an enlarged tissue mass hyperplasia
occurs when one mature cell type is replaced by a different mature cell type metaplasia
term applied to tissue in which the cells vary in size et shape, lg. nuclei are present et the rate of mitosis is increased dysplasia
cells that are undifferentiated with variable nuclear et cell stuctures et numerous miotic figures (characteristic of cancer) anaplasia
"new growth" usually called a tumor, malignant are referred to a as cancers; benign tumors do not always become malignant neoplasm
porgrammed cell death apoptosis
deficit of oxygen in the cells, due to respiratory problems or circulatory obstruction ischemia
reduced oxygen in the tissue hypoxia
occurs when there is an absence of oxygen, causing a decrease of ph et further metabolic impairment anaerobic metabolism
ischemia, physical agents, mechanical damage, chemical toxins, micro-organisms, abnormal metabolites, nurtitional deficits, imbalance of fluids the 8 most common causes of cell injury
excessive heat or cold, or radiation exposure in cell injury physical agents
deficit of oxygen to cells, due to respiratory problems or circulatory obstruction ischemia
pressure or tearing of tissue in cell injury mechanical damage
bacteria, virus et parasites in cell injury micro-organisms
accumulate in cells causing cell injury abnormal metabolites
When the most common cause of cellular injury occurs what is the manifestation seen with the cell? Ischemia which is reduced blood supply to the tissue which results in insufficient oxygen et reduced cellular metabolism. Decreased oxygen in the tissue may occur locally because of a blocked artery or systemically because of respiratory impairment;
describe first inital cell damage stage cell damage causes an alteration in a metabolic reaction, which leads to loss of function of the cell. If the factor causing the damage is removed quickly, the cell may be able to be recovered
describve second cell damage stage after increased damage continues as damage increases, detectable morphologic changes occur in the nucleus et teh cell as well; generally swelling et rupture occur et damage occurs et cell dies
term used when a group of cells die necrosis
liquification, coagulative, fate, caseous 4 types of necrosis
process where dead cells liquefy under the influence of certain cell enzymes liquifacation
cell proteins are altered or denatured et cell retains some form for a time after death coagulative
fatty tissue is broken down into fatty acids in the presence of infection or certain enzymes fat
form of coagulation necrosis, a thick, yellowish cheesy substance forms caseous
excision of very small amts of living tissue biopsy
examination after death autopsy
identification of a specific disease through evaluation of signs et symptoms, lab tests, or other tools diagnosis
concerns the causative factors in a particular disease, there may be one or several causative factors (congenital defects, inherited or genetic disorders, viruses or bacteria, immunologic dysfunction, metabolic derangements, degenerative chgs, malignancy etiology
the cause of the disease is uknown idiopathic
a treatement, a procedure or an error may cause a disease iatrogenic
encompass the tendencies that promote development of a disease in an individual. Indicates a high risk for the disease but not certain development (age, gender, inherited, factors, occupational, exposure, or certain dietary practices) predisposing factors
disease is closely linked to etiology et predisposing factors for a specific disease (vaccines, dietary or lifestyle changes, cessation of potentially harmful activities such as smoking et removal of harmful materials in the environment) prevention
the development of the disease of the sequence of events involved in the tissue changes related to the specific disease process pathogenesis
sudden obvious disease, indicates a short term illness that develops very quickly with marked signs such as high fever or severe pain (acute apendicitis) acute
gradual progression with mild or vague signs insiduous
the disease is often a milder condition developing gradually but persists for a long time et usually cause more pertinent tissue damage, marked my intermittent acute episodes (R.A) chronic
state exists in some conditions in which pahologic changes occur but not obvious manifestations are exhibited by the patient, perhaps because of the great reserve capacity of some organs (kidney failure) subclinical
"silent" stage, no clinical signs are eveident, characterizes some disease latent
period occurs in some diseases, the time between exposure to the micro-organism et the onset of signs or symptoms (day to weeks) incubation
period is the time in the early development of a disease when one is aware of a change in the body, but the signs are nonspecific (lab tests are negative) prodromal
the clincial evidence of effects, the signs et symptoms of disease manifestation
found at the site of the problem local
general indicators of illness (fever) systemic
objective indicators of disease that are obvious to someone other than the affected individual (fever or rash) signs
subjective feelings, such as pain or nausea symptoms
a specific local change in the tissue (microscopic or highly visible) lesion
collection of signs et symptoms occurring together in response to a certain condition syndrome
are lab tests that assist in the diagnosis of a specific disease diagnostic tests
may mark the course of disase, the manifestations of the disease subside remission
may mark the course of disease, the signs increase during manifestations exacerbation
factor is a condition that triggers an acute episode (seizure) precipitating
new secondary or additional problems that arise after the original disease begins complications
therapeutic interventions are treatment measures used to promote recovery or slow the progress of a disease therapy
describe the potential unwanted outcomes of the primary condition sequelae
period of revoery et return to the normal, healthy state, it may last for several days or months convalescence or rehabilitation
defines the probability or likelihood for recovery or other outcomes prognosis
the disease rates witin a group, used to indicate functional impairment morbidity
the relative number of deaths resulting from a particular disease mortality
science of tracking the pattern or occurrence of disase epidemiology
a higher than expected number of cases of an infectious disease within a given area epidemics
include high number of cases in many regions of the globe pandemics
disease is tracked by recording 2 factors, the incidence et prevalence occurrence
indicates the number of new cases in a given population noted within a stated time period prevalence
diseases are infections that can be spread from one person to another communicable
diseases the physican is designated to report to authorities (AIDS, SARS, HIV) notifiable or reportable
performed after death to determine cause of death, or determine course of the illness et effectiveness of treatment autopsy
having 2 identical alleles at corresponding points on a chromosome pair homozygous
having 2 different alleles ar corresponding points on a chromosome pair heterozygous
inherited diseases, single gene variation, dominant disorder, if you have dominant allele you have disease, no carrier state, does not skip generation, delayed age of onset, variable expression Mendeliam traits/disorders
People who have same mutated gene show ________ symptoms different
genotype+phenotype present, genotype+phenotype absent penetrance
must have homozygous pair for trait/disease, hase deisease state (25%)/carriers (50%)/no disease (25%), skips generations, higher with imbreeding recessive diseases
generally on X chromosome et is recessive, female carriers et affected males, 50% of carrier's son will have disease et 50% of daughters will be carriers sex linked inheritance
high fat, low fiber diet colon cancer
obesity, dietary sugar type 2 diabetes
high fat intake, minimal exercise coronary heart disease
smoking, elevated cholesterol hypertension, stroke
social, environmental alcoholism
high fat intake, alcohol consumption non BRCA 1 or 2 in female breast cancer
accidental death of cells by swelling or rupture necrosis
severe ischemia/hypoxia coagulative necrosis
ischemic injury > tissue soft et liquefied > walled off rom healthy tissue > accumulation of cysts et pus liquefactive necrosis
coagulative et liquefactive combination; tissue appears soft, granular, et resemble clumped cheese caseous necrosis
necrotic tissue appears opaque ete chalky; combining of Ca+, Mg+, Na+ to make soaps fat necrosis
hypoxia > bacterial invasion > massive necrosis et putrefaction > death of tissue et possibly person gangrenous necrosis
active process of cellular self-destruction apoptosis
involve a number of genes or genetic influences combined with environmental factors (cleft palat, congenital hip dislocation, congenital heart disease);necessary, can't have unless it is inherited; sufficient, you get the gene, you have it multifactorial inheritance
turn mitosis "off"-autosomal recessive; genes that are normally involved in regulating the cell cycle (mitosis) et preventing growth at inappropriate times tumor supressor genes
genes that can cause the development of cancer when mutated; genes that are involved in the normal cell cycle (mitosis) but are in some way mutated or unregulated in cancer oncogenes
mutation of these genes cause hyperactivity which reates large amts of cells oncogenes
can inherit a predisposition of cancer but could take 6 to 10 genetic changes to cell to stimulate cancer (Knudson's hypothesis); cancer is multifactorial
1. germ line mutations can exist (often in a tumor supressor gene (Rb) rarely sufficient for development of cancer) 2. additional mutating occur somatically (additional mutations in tumor supressor genes, mutations in oncogenes, et chromsomal level chgs) cancer is considered multifactorial
1. Precancerous stages 2. age statistics 3. interplay of genes et carcinogens cancer is considered multifactoriale
sm chg in DNA > chg in AA > inserted into protein > protein fold incorrectly > functions improperly > DISEASE the path of mutation in DNA that leads to disease
study of how a person's genetic inheritance affects the body's response to drugs; uses DNA et AA sequencing to created new drugs that work at molecular level to prevent/treat disease pharmacogenomics
studying the relationship between human genome, nutrition, et health; dietary interventions for responders et noriresponders (PKU testing) nutrigenomics
insertion of genes into an individual's cell et biological tissues to treat disease such as cancer; mutant genes are replace with functional ones gene therapy
absent or greatly reduced ability to clear or activate drug PM-poor metabolizer
heterzygotes for both normal et reduced activity gene IM-intermediate metabolizer
THE NORM re: drugs EM-extensive metabolizer
greatly increased activity that accelerates clearance or increases activation RM-rapid metabolizer
used to confirm or rule out a known or suspected genetic disorder in a symptomatic individual (DMD) diagnostic
offered to asymptomatic individuals (usually adults) with a family history of a genetic disorder (FAP, autosomal dominant) predictive
performed to identify individuals who have a gene mutation for a disorder inherited in an autosomal recessive or x-linked recessive manner; carriers usually do not themselves have symptoms related to gene mutation (hemophillia A) carrier
performed during a pregnancy to assess health status of a fetus; offered when there is an increased risk of having a child with a genetic condition due to maternal age, family history, ethnicity or suggestive fetal ultrasound (ATR-S) Prenatal
identifies individuals who have increased chance of having a specific disorder so that further testing et treatment can be started as soon as possible newborn
these can be inherited because it can be recessive or dominant x-linked inheritance
1:4000 boys et 1:8000 girls have been identified with Fragile-X disorder; mutation is inherited as a dominant allele carried on the s-chromosome; thus male et females can both be affected x-linked inheritance dominant
these disorders are usually carried by the x-chromosome; genes for x-linked disorders are recessive but are manifested in the heterozygous males who lack the matching normal gene on the Y chromsome; x-linked inheritance recessive
females are carriers without clinical signs when they are heterozygous, carrier females have 50%, affected male have 50%. x-linked inheritance recessive
affected male will transmit to daughters to make them carriers et nothing to sons (DMD et hemophilia A) x-linked inheritance recessive disorder
Created by: melissaaclark
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