pahto

non-sex chromosomes, homologous

one pair of the 23, two homologous in females and nonhomologous in males

uses banding techniques, unambiguously numbered chromosomes, and individual variation in ch. composition can be studied, and missing or dulication portions often resulting in disease can be identified

ordered display of chromosomes arranged according to size with homologous chromosomes paired together

area of a chromosome occupied by a gene

different forms of a nucleotide sequence

a locus that has two or more alleles that occur with an appreciable frequency in a population

the composition of genes at a given locus

outward appearance of an individual which is the result of both genotype and environment

effects of one allele mask those of another, dissimilar alleles at corresponding chromosome loci

identical alleles at corresponding chromosome loci

allele whose effects are observable

allele whose effects are hidden

heterozygote is distinguishable from both homozygotes

pattern in which genetic disease is inherited through the generations of a family

homologous genes separate from one another during reproduction and that each each reoproductive cell carries only one of the homologous genes

hereditary transmission of one gene has no effect on the transmission of another

behavior of chrmomosomes doews essentially correspond to Mendel's laws

tool in analysis of modes of inheritance

the beginning individual of the pedigree

probability that subsequent children also will have the disease

probability that a child will have the disease

mating of two related individuals and the offspring are said to be inbred

conditions caused by genes located on the sex chromosomes

occurs much more often in one sex than in the other

new combinations of alleles can be formed

process of forming such new arrangements of alleles

one base pair is replaced by another but is subtle and is not observable as chromosome abberations

amino acid change that does not occur

insertion of deletion of one or more base pairs to the CNA molecule, alters the resulting amino acid sequence

large number of agents known to increase the frequency of mutations

mutation that occurs in the absence of exposure to known mutagens

certain areas of some chromosomes that have particularly high mutation rates

50% of all recovered in 1st trimester have major chromosomal abberations

• 16 wks
• fetal fibroblasts cultured for 2-3 wks and karyotyped
• risk of loss 0.5%
• only for at risk mothers and fetuses

• 10 wk
• more cells collected and immediately sampled
• risk 1%

multiple of the normal number of chromosomes

• more than the diploid number of ch
• some normal (liver, bronchial and epithelial) have polyploidy

• three copies of each chromosome
• early in development and always lethal

somatic cell that does not contain a multiple of 23

• three copied of one chromosome
• may be survivable
• down's syndrome

• only one copy of a given ch
• lethal if autosome
• lethal if no x in male
• one x in female = turner's

• error in which homologous ch or sister ch fail to separate normally during meiosis or mitosis
• causes monosomy/trisomy

• only an extra portion of a chromosome is present in each cell
• less severe

body has two or more different cell lines, each of which has a different karyotype, nondisjunction in 1 line of cells but not the other

meiosis 1 or 2

• females having three X ch in each cell
• sterility, menstrual irregularity, mental
• more X's = more severe

• 47, XXY
• male appearance
• sterile
• half develop female breasts
• small testes
• sparse body hair and high voice
• tall
• metal retardation

• 45,X
• sterile females
• gonadal streaks instead of ovaries
• short and webbing of neck
• wide nipples
• carctation of aorta
• edema of feet
• reduced carrying angle at the elbow
• sparse body hair

• low birth weight
• mental ret
• microcephaly
• heart defects
• facial appearance and cat cry

• less serious than deletion
• same region of deletion causes mental ret but normal physical characterisitics

• balanced, no gain or loss of material
• inverted order after breaking
• no apparent physical effect
• position effect - change in gene's expression cause by its position

• interchanging of genetic material between nonhomologous chromosomes
• lose no important genetic material
• carriers have no phenotypic differences but offspring will
• acute myelogenous leukemia

• fusion of 2 long arms
• carriers lose no important genetic material
• offspring have serious duplications/deletions

• breaks take place in two different chromosomes and material is exchanged
• carrier is normal
• offspring have problems
• fragile sites

no apparent relationship to disease

repeat of CGG

• fragile site on long arm of the X ch
• mental retardation

• machroordinism
• mental retardation
• large ears
• prominent jaw
• high pitched jocular speech

• normal 29
• 2X - man can carry
• 4X - man affected and can pass it on
• >700 - can see phenotype

worse in successive generations

• autosomal dominant, hereditary
• high penetrance
• neuronal aggregation of defective proteins
• no cure and few treatments
• affective more in spermatogenesis

• normal: 17-20
• 27-35: meiotically unstable
• 40-50: adult onset cases
• >50: juvenile onset

• inherited through males
• 1/10000 western countries
• 5/500000 prevalence
• all ethnic groups
• onset 30-50 yo

• too many copies of CAG in huntingtin gene
• in exon 1
• gain-of-function, negative dominant

in caudate, putamen, and striatum

• dystonia
• chorea
• akinesia

• fidgetiness, restlessness
• chorea
• muscle spasms
• tics
• dystonic posturing
• falling
• difficulty swallowing/producing speech
• akinesia

• altered organization
• slowed processing of information
• difficulty learning new things
• difficulty planning and prioritizing
• difficulty multi-tasking
• impairment of space perception
• difficulty organizing incoming and outgoing words

• planning, working
• memory, attention, problem
• solving, verbal reasoning, inhibition, mental flexibility, multi-tasking,
• initiation and monitoring of actions

• depression
• apathy
• personality changes
• anxiety/irritability
• obsession with certain activities
• delirium/mania
• dementia
• denial

• gABA
• dopamine antagonists (haloperidol, phenothiazines)

cause of disease in a child with no family history of the disease

• autosomal dominant
• 7/8 spontateous - mutation of FGFR3
• NOT FROM HORMONES

percentage of individuals with a specific genotype who also exhibit the phenotype

• huntington's disease - does not show up until later in life 30-50
• therefore, penetrance increases with age

gene is present but normal phenotype

person with affected parent and affected child

• extent of variation in phenotype associated with a particular genotype
• penetrance can be complete but expressitivity will alter the severity of the phenotype

• influenced by other genes
• environmental factors
• type of mutation

• retinoblastoma gene
• cafe-au-lait or malignant neurofibromas, scoliosis, seizures, gliomas, meuromas, hypertension, learning disabilities

• turns off one X
• men have 0 normally
• women have 1 normally
• occurs at embryonic 7-14 days
• can be mom or dad but once inactivated, stable

genetic imprinting deletion of ch 15 on fathers side

genetic imprinting deletion of ch 15 on mothers side

• short stature
• obesity
• hypogonadism

• mental retardation
• seizures
• ataxic gait

• need two copies to get the disease
• carries normal phenotype
• siblings will have but not parents
• 1/4 of 2 carrier parents will have

• recessive
• hemophilia A and fragile X

SRY gene

male phenotype

Female phenotype

• DMD
• progressive muscle degeneration
• code for muscle protein and when mutated, doesn't work

respiratory and cardiac failure

male pattern baldness

autosomal dominant breat cancer

• see how often recombinations of certain genes take place
• crossing over during meiosis depends on linkage

• Lab technique to identify certain DNA
• segments/genes in a large piece of DNA/chromosome

• Common measure of the effect of a specific risk factor
• incidence rate of disease among individuals
• exposed to a risk factor/” not exposed to risk factor

Both members of a twin pair share a trait

Members of a twin pair do not share the trait

the chemical modifications that the same DNA sequence can produce dramatically different phenotypes

sequences left to code for proteins

epigenetic modification characerized by methylation and other changes

excised sequences that do not code for proteins

sequence of DNA that specifies the beginning of a gene

process of forming new arrangements of alleles

can occur in only one of the sexes often because of anatomic differences

caused by genes on the sex chromosomes

include all cells other than gametes

process by which RNA is synthesized from a DNA template

process by which RNA directs the sunthesis of a polypeptide

normal function of its protein product is to regulate the cell cycle so that cells do not grow uncontrollably

found on many cells of the innate and acquired immune responses and some epithelial cells that recognize several fragments produced through activation of the complement system

excessive wound contraction leading to deformity

fever-causing cytokines released inside our body

process by which epithelial cells grow into the wound from surrounding healthy tissue

body's attempt to wall off and isolate the infected area, may be formed if neutrophils and macrophages are unable to destroy microorganisms during the acute inflammatory response

vasoactive amine that causes temporary, rapid constriction of the large vessel walls and dilation of postcapillary venules, both of whih result in increased blooed flow into the microcirculation

natural epithelial barrier and inflammation confer innate resistance and protection

plasma protein system that augments inflammation in several ways, pirmarily by producing bradykinin

same as innate

recognize and eliminate the cells infected with viruses as well as other abnormal host cells, specifically cancer cells

molecules that rag microorganisms for destruction by cells of the inflammatory system

pathogen associated molecular patterns, products of cellular damage, recognized by PRRs

pattern recognition receptors, recognize PAMP or molecular patterns on infectious agents

polymorphonuclear neutrophil, member of the granulocytic series, predominant phagocyte in early inflammatory site arriving within 6-12 hours after inital injury and ingest bacteria, dead cells, and celluar debris

in early or mild inflammation, watery exudate with very few plasma proteins or leukocytes

toll-like receptor, expessed on surface of many cells that have direct and early contact with potential pathogenic microorganisms that recognize a large variety of PAMPs located on the microorganism's cell wall or surface

transforming growth factor stimulates fibroblasts entering the lesion to synthesize and secrete the collagen precursor procollagen

tumor necrosis factor secreted by macrophages in response to recognition of PAMPs by TLRs

produced by an individual after either natural exposure to an antigen or after immunization

called into action after the external barriers have been compromised and inflammation has been activated

lievel of circulating antibodies

foreign or non self substances associated with pathogens such as viruses, bacteria, fungi, parasites, but also found on noninfectious environmnetal agents such as pollens, foods, and bee venom and many others

two identical fragmnets that retain the ability to bind antigen

primary role of molcules of the MHC, antibody and cellular immune responses are dependent on this

antigen presenting cell, manages some types of antigens, processes and expresses the antigen on the surface of the cell

large population produced before birth that have the capacity to recognize almost any foreign antigen found in the environment

recognizes circulating antibody and antigen receptors on the surface of B lymphocytes

cluster differentiation, accepted format for labeling a very large family of proteins found on the surface of many cells

lymphocytes with receptors against self-antigens have been eliminated

variable region of the antibody heavy chain is conserved and the light chain remains unchanged from that used in the BCR and therefore the antigenic specificity also remains unchanged

antigen selects those lymphocytes with compatible receptors, expands their population, and causes differentiation into antibody-secreting plasma cells or mature T cells

CDR, subdivision of the variable region in the amino acid sequence localized into three areas

third fragment crystallized when separated from the Fab portion

precise portion of the antigen that is configured for recognition and binding

antigens that are too small to be immunogens by themselves but become immungenic in combination with larger molecules that function as carrier for the haptens

subpopulation of the T cell interacting with APC that facilitate immune responses

result of studies of transpantation, human MHC molecules,

major histocompatibility complex, essential set of recognition molecules, primary role is antigen presentation

long-lived and capable of remembering the antigen and responding more rapidly and efficiently on subsequent exposure to the same antigen

help induce secondary cell-mediated immune responses

inactivating or blocking the binding of an antigen to a receptor caused by antibodies

necessary for efficient bacterial clearnace because many bacteria have an outer capsule that deters recognition by phagocytes unless it is coated with an antibody or complement protein

found in blood, secondary lymphoid organs, and some inflammatory sites; factory for antibody production and is dedicated to the secreation of a single class or subclass of antibody with one variable region and therefore specificity against one antigenic determinant

part of the adaptive immune response, actively prevents their recognition by lymphocytes and antibodies

activation of large populations of T lymphocytes, regardless of antigen specificity