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  1. autosomes
    non-sex chromosomes, homologous
  2. sex chromosomes
    one pair of the 23, two homologous in females and nonhomologous in males
  3. giemsa stain
    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
  4. karyotype
    ordered display of chromosomes arranged according to size with homologous chromosomes paired together
  5. locus
    area of a chromosome occupied by a gene
  6. alleles
    different forms of a nucleotide sequence
  7. polymorphic
    a locus that has two or more alleles that occur with an appreciable frequency in a population
  8. genotype
    the composition of genes at a given locus
  9. phenotype
    outward appearance of an individual which is the result of both genotype and environment
  10. heterozygote
    effects of one allele mask those of another, dissimilar alleles at corresponding chromosome loci
  11. homozygous
    identical alleles at corresponding chromosome loci
  12. dominant
    allele whose effects are observable
  13. recessive
    allele whose effects are hidden
  14. codominance
    heterozygote is distinguishable from both homozygotes
  15. mode of inheritance
    pattern in which genetic disease is inherited through the generations of a family
  16. principle of segregation
    homologous genes separate from one another during reproduction and that each each reoproductive cell carries only one of the homologous genes
  17. prinicple of independent assortment
    hereditary transmission of one gene has no effect on the transmission of another
  18. chromosomal theory of inheritance
    behavior of chrmomosomes doews essentially correspond to Mendel's laws
  19. pedigree
    tool in analysis of modes of inheritance
  20. proband
    the beginning individual of the pedigree
  21. recurrence risk
    probability that subsequent children also will have the disease
  22. occurence risk
    probability that a child will have the disease
  23. consanguinity
    mating of two related individuals and the offspring are said to be inbred
  24. sex-linked trait
    conditions caused by genes located on the sex chromosomes
  25. sex-influenced trait
    occurs much more often in one sex than in the other
  26. crossing over
    new combinations of alleles can be formed
  27. recombination
    process of forming such new arrangements of alleles
  28. base pair substitution
    one base pair is replaced by another but is subtle and is not observable as chromosome abberations
  29. silent substitution
    amino acid change that does not occur
  30. frameshift mutation
    insertion of deletion of one or more base pairs to the CNA molecule, alters the resulting amino acid sequence
  31. mutagens
    large number of agents known to increase the frequency of mutations
  32. spontaneous mutation
    mutation that occurs in the absence of exposure to known mutagens
  33. mutational hot spots
    certain areas of some chromosomes that have particularly high mutation rates
  34. spontaneous abortions
    50% of all recovered in 1st trimester have major chromosomal abberations
  35. amniocentesis detection method
    • 16 wks
    • fetal fibroblasts cultured for 2-3 wks and karyotyped
    • risk of loss 0.5%
    • only for at risk mothers and fetuses
  36. chorionic villus sampling
    • 10 wk
    • more cells collected and immediately sampled
    • risk 1%
  37. euploid
    multiple of the normal number of chromosomes
  38. polyploid
    • more than the diploid number of ch
    • some normal (liver, bronchial and epithelial) have polyploidy
  39. triploidy
    • three copies of each chromosome
    • early in development and always lethal
  40. aneuploidy
    somatic cell that does not contain a multiple of 23
  41. trisomy
    • three copied of one chromosome
    • may be survivable
    • down's syndrome
  42. monosomy
    • only one copy of a given ch
    • lethal if autosome
    • lethal if no x in male
    • one x in female = turner's
  43. nondisjunction
    • error in which homologous ch or sister ch fail to separate normally during meiosis or mitosis
    • causes monosomy/trisomy
  44. partial trisomy
    • only an extra portion of a chromosome is present in each cell
    • less severe
  45. ch mosaics
    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
  46. nondisjunction can happen when
    meiosis 1 or 2
  47. trisomoy X
    • females having three X ch in each cell
    • sterility, menstrual irregularity, mental
    • more X's = more severe
  48. klinefelters syndrome
    • 47, XXY
    • male appearance
    • sterile
    • half develop female breasts
    • small testes
    • sparse body hair and high voice
    • tall
    • metal retardation
  49. turners syndrome
    • 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
  50. cri du chat deletion
    • low birth weight
    • mental ret
    • microcephaly
    • heart defects
    • facial appearance and cat cry
  51. duplication
    • less serious than deletion
    • same region of deletion causes mental ret but normal physical characterisitics
  52. inversion
    • 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
  53. translocation
    • interchanging of genetic material between nonhomologous chromosomes
    • lose no important genetic material
    • carriers have no phenotypic differences but offspring will
    • acute myelogenous leukemia
  54. robertsonian translocation
    • fusion of 2 long arms
    • carriers lose no important genetic material
    • offspring have serious duplications/deletions
  55. reciprocal translocation
    • breaks take place in two different chromosomes and material is exchanged
    • carrier is normal
    • offspring have problems
    • fragile sites
  56. areas on chromosomes that develop distinctive breaks and gaps
    no apparent relationship to disease
  57. hot spot
    repeat of CGG
  58. fragile X syndrome
    • fragile site on long arm of the X ch
    • mental retardation
  59. S&S of fragile X
    • machroordinism
    • mental retardation
    • large ears
    • prominent jaw
    • high pitched jocular speech
  60. Fragile X repeats
    • normal 29
    • 2X - man can carry
    • 4X - man affected and can pass it on
    • >700 - can see phenotype
  61. genetic anticipation
    worse in successive generations
  62. huntington's disease
    • autosomal dominant, hereditary
    • high penetrance
    • neuronal aggregation of defective proteins
    • no cure and few treatments
    • affective more in spermatogenesis
  63. huntington's disease outcome number
    • normal: 17-20
    • 27-35: meiotically unstable
    • 40-50: adult onset cases
    • >50: juvenile onset
  64. demographics of Huntington's
    • inherited through males
    • 1/10000 western countries
    • 5/500000 prevalence
    • all ethnic groups
    • onset 30-50 yo
  65. huntington's patho
    • too many copies of CAG in huntingtin gene
    • in exon 1
    • gain-of-function, negative dominant
  66. huntington's repeat aggregation
    in caudate, putamen, and striatum
  67. problems with huntington's
    • dystonia
    • chorea
    • akinesia
  68. S&S of huntington's
    • fidgetiness, restlessness
    • chorea
    • muscle spasms
    • tics
    • dystonic posturing
    • falling
    • difficulty swallowing/producing speech
    • akinesia
  69. cognitive S&S of huntington's
    • 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
  70. executive functions
    • planning, working
    • memory, attention, problem
    • solving, verbal reasoning, inhibition, mental flexibility, multi-tasking,
    • initiation and monitoring of actions
  71. psychiatric S&S of huntington's
    • depression
    • apathy
    • personality changes
    • anxiety/irritability
    • obsession with certain activities
    • delirium/mania
    • dementia
    • denial
  72. treating neurochemical symptoms of huntingtons
    • gABA
    • dopamine antagonists (haloperidol, phenothiazines)
  73. spontaneous mutation
    cause of disease in a child with no family history of the disease
  74. achondroplasia
    • autosomal dominant
    • 7/8 spontateous - mutation of FGFR3
  75. penetrance
    percentage of individuals with a specific genotype who also exhibit the phenotype
  76. age-dependent penetrance example
    • huntington's disease - does not show up until later in life 30-50
    • therefore, penetrance increases with age
  77. incomplete pentrance
    gene is present but normal phenotype
  78. obligate carrier
    person with affected parent and affected child
  79. expressitivity
    • extent of variation in phenotype associated with a particular genotype
    • penetrance can be complete but expressitivity will alter the severity of the phenotype
  80. mechanisms altering expressitivity
    • influenced by other genes
    • environmental factors
    • type of mutation
  81. neurofibromatosis
    • retinoblastoma gene
    • cafe-au-lait or malignant neurofibromas, scoliosis, seizures, gliomas, meuromas, hypertension, learning disabilities
  82. X inactivation
    • 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
  83. prader-willi syndrome
    genetic imprinting deletion of ch 15 on fathers side
  84. angelman syndrome
    genetic imprinting deletion of ch 15 on mothers side
  85. S&S of PW
    • short stature
    • obesity
    • hypogonadism
  86. S&S of angelman
    • mental retardation
    • seizures
    • ataxic gait
  87. autosomal recessive
    • need two copies to get the disease
    • carries normal phenotype
    • siblings will have but not parents
    • 1/4 of 2 carrier parents will have
  88. X-linked or mostly (dominant or recessive)
    • recessive
    • hemophilia A and fragile X
  89. sex is determined by...
    SRY gene
  90. XX with SRY =
    male phenotype
  91. XY without SRY
    Female phenotype
  92. most common X-linked...
    • DMD
    • progressive muscle degeneration
    • code for muscle protein and when mutated, doesn't work
  93. cause of death in DMD pts
    respiratory and cardiac failure
  94. male example trait of disease
    male pattern baldness
  95. female examplet trait of disease
    autosomal dominant breat cancer
  96. linkage analysis
    • see how often recombinations of certain genes take place
    • crossing over during meiosis depends on linkage
  97. in situ hybridization
    • Lab technique to identify certain DNA
    • segments/genes in a large piece of DNA/chromosome
  98. risk factor
    • 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
  99. concordant
    Both members of a twin pair share a trait
  100. discordant
    Members of a twin pair do not share the trait
  101. epigenetic
    the chemical modifications that the same DNA sequence can produce dramatically different phenotypes
  102. exon
    sequences left to code for proteins
  103. genomic imprinting
    epigenetic modification characerized by methylation and other changes
  104. intron
    excised sequences that do not code for proteins
  105. promoter site
    sequence of DNA that specifies the beginning of a gene
  106. recombination
    process of forming new arrangements of alleles
  107. sex-limited trait
    can occur in only one of the sexes often because of anatomic differences
  108. sex-linked inheritance
    caused by genes on the sex chromosomes
  109. somatic cell
    include all cells other than gametes
  110. transcription
    process by which RNA is synthesized from a DNA template
  111. translation
    process by which RNA directs the sunthesis of a polypeptide
  112. tumor-suppressor gene
    normal function of its protein product is to regulate the cell cycle so that cells do not grow uncontrollably
  113. complement receptor
    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
  114. contracture
    excessive wound contraction leading to deformity
  115. endogenous pyrogen
    fever-causing cytokines released inside our body
  116. epithelialization
    process by which epithelial cells grow into the wound from surrounding healthy tissue
  117. granuloma
    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
  118. histamine
    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
  119. innate immunity
    natural epithelial barrier and inflammation confer innate resistance and protection
  120. kinin system
    plasma protein system that augments inflammation in several ways, pirmarily by producing bradykinin
  121. native immunity
    same as innate
  122. natural killer cells
    recognize and eliminate the cells infected with viruses as well as other abnormal host cells, specifically cancer cells
  123. opsonin
    molecules that rag microorganisms for destruction by cells of the inflammatory system
  124. PAMP
    pathogen associated molecular patterns, products of cellular damage, recognized by PRRs
  125. PRR
    pattern recognition receptors, recognize PAMP or molecular patterns on infectious agents
  126. PMN
    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
  127. serous
    in early or mild inflammation, watery exudate with very few plasma proteins or leukocytes
  128. TLR
    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
  129. TGF
    transforming growth factor stimulates fibroblasts entering the lesion to synthesize and secrete the collagen precursor procollagen
  130. TNF
    tumor necrosis factor secreted by macrophages in response to recognition of PAMPs by TLRs
  131. active aquired immunity
    produced by an individual after either natural exposure to an antigen or after immunization
  132. adaptive immune response
    called into action after the external barriers have been compromised and inflammation has been activated
  133. antibody titer
    lievel of circulating antibodies
  134. antigen
    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
  135. antigen binding fragment
    two identical fragmnets that retain the ability to bind antigen
  136. antigen presentation
    primary role of molcules of the MHC, antibody and cellular immune responses are dependent on this
  137. APC
    antigen presenting cell, manages some types of antigens, processes and expresses the antigen on the surface of the cell
  138. B-lymphocyte
    large population produced before birth that have the capacity to recognize almost any foreign antigen found in the environment
  139. B-cell receptor
    recognizes circulating antibody and antigen receptors on the surface of B lymphocytes
  140. CD
    cluster differentiation, accepted format for labeling a very large family of proteins found on the surface of many cells
  141. central tolerance
    lymphocytes with receptors against self-antigens have been eliminated
  142. class switch
    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
  143. clonal selection
    antigen selects those lymphocytes with compatible receptors, expands their population, and causes differentiation into antibody-secreting plasma cells or mature T cells
  144. complementary determining region
    CDR, subdivision of the variable region in the amino acid sequence localized into three areas
  145. crystalline fragment
    third fragment crystallized when separated from the Fab portion
  146. epitope
    precise portion of the antigen that is configured for recognition and binding
  147. hapten
    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
  148. helper T cell
    subpopulation of the T cell interacting with APC that facilitate immune responses
  149. human leukocyte antigen
    result of studies of transpantation, human MHC molecules,
  150. MHC
    major histocompatibility complex, essential set of recognition molecules, primary role is antigen presentation
  151. memory cell
    long-lived and capable of remembering the antigen and responding more rapidly and efficiently on subsequent exposure to the same antigen
  152. memory t cell
    help induce secondary cell-mediated immune responses
  153. neutralization
    inactivating or blocking the binding of an antigen to a receptor caused by antibodies
  154. opsonization
    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
  155. plasma cell
    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
  156. peripheral tolerance
    part of the adaptive immune response, actively prevents their recognition by lymphocytes and antibodies
  157. superantigen
    activation of large populations of T lymphocytes, regardless of antigen specificity
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path exam 2
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