Genetics Final

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  1. consanguinous mating:
    • aka: inbreeding
    • reproduction between closely related people
    • the closer the relative is related to the proband/consultand the more likely it is that they share a common genotype
  2. primary relative
    • immediate relative
    • 1 position away on the descent line
  3. secondary relative
    2 positions away on the descent line
  4. tertiary relative
    3 positions away on the descent line
  5. multifactorial inheritance
    • aka: polygenic inheritance
    • multiple genes determine a single trait
    • the more genes involved the more continuous the variation
  6. intelligence
    • multifactorial
    • nature vs. nurture
    • monozygous tins show substantial evidence for a genetic basis to intelligence
  7. heritability
    • a correlation between phenotype and genotype
    • H=1: populations phenotypic variance due entirely to genotype
    • H-0: variance due to environment
  8. observational studies
    predict the futrue based on the past using emperical risk figures
  9. 3 ways to measure multifactorial inheritance
    • heritability
    • correlation between specific DNA marker sequence
    • emperical risk figures
  10. approaches used with multifactorial inheritace
    • pedigrees
    • twin studies
    • heritability
    • DNA associative studies
    • emperical risk figures
  11. family patterns of multifactorial inheritance
    • 1. family risk is higher than the general population
    • 2. family risk drops the further away you are
    • 3. recurrent risk higher if multiple family members are affected
    • 4. risk often related to severity
    • 5. may exibit threshold expression
    • 6. prior history useful to determine approx recurrant risk
    • 7. primary relatives risk = square root of the populations risk
  12. multifactorial inheritance:
    • very difficult to explain at molecular level
    • some degree of continuous variability, heredity, and familial aggregation (autosomal dom. with reduced penetrance)
    • envrionment plays a role in expression
    • everything is somehow genetic
  13. population genetics attemps:
    to address the complex issue of how genes are distributed in populations
  14. populations genetics answers what questions
    • what is the genotype of a typical person
    • how common are carriers
    • what determines pop frequency of disease
    • what factors effect frequency of genes in pop
  15. populations have 3 genetic characteristics
    • 1. gene poop
    • 2. allelic frequencies
    • 3. genotypic and phenotypic frequencies
  16. gene pool:
    sum total of all alleles in the reproductive gametes from members of a mendillian population
  17. hardy-weinburg equilibrium
    • the state of balance between allelic frequencies
    • 1. no mutations
    • 2. no migration
    • 3. no assortative mating
    • 4. no selecion
    • 5. no genetic drift
  18. equation for HW equilibrium
    1= p2+ 2pq+ q2
  19. ABO blood system
    • O is recessive
    • A and B are co-dominant
  20. major histocompadability complex
    • produces human leukocyte antigen
    • genes are inherited as a group-haplotypes
    • certain HLA types are associted with disease
  21. B27 HLA haplotype associated with:
    high risk of ankylosing spondylitis
  22. antibody
    a protein coded for by a gene
  23. how to infectious agents gain acess to the body
    by binding to specific cell surface molecules coded for by genes
  24. cancer
    • when cells lose control of their cell cycle
    • some run in families meaning cancer is a disease of genes
  25. proto-oncogenes
    • promote cell division
    • form oncogenes- promote uncontrolled cell division
  26. tumore suppressor gene
    inhibit cell division
  27. knudson hypothesis
    • carcinogenesis requires multiple tumore suppresor gene mutations
    • two-hit model
  28. sporadic cancer
    • most cancers
    • both TSGs must be mutated for cancer
  29. familial cancer
    inherit one bad TSG, other one mutates
  30. cancer immortality
    released from restraints on # of mitotic cells
  31. most breast cancers and colon cancers are: (sporadic or familial?)
  32. when is your risk of developing breast cancer increased?
    • if you have BRCA1 and 2
    • have 60-80% risk of developing cancer
  33. mitochonrial genetics
    • reproduction is unpredictable
    • only recieve mitochondria from moms oocyte- mitochondrial genes are maternal
    • distrobution of variant ones in body is unpredictable
    • mitochondrial disorder inheritance is very hard to predict
  34. Nutritional genetics
    • there is diversity in the ability of a person to process or metabolize nutrients
    • nutrients can alter gene expression
    • nutrients may alter compounds that affect other metabolic pathways
    • variations in adsoprtion ability
    • nutrients are a form of nruture
  35. genetic counseling
    a collaborative effort between health profesionals
  36. goal of cenetic counseling
    to expose patients to methods of prevention, aboidance, and amelioration of these disorders
  37. what is the chance of having another affected child??
    autosomal recessive
  38. what is the chance of having another affected child??
    autosomal dominant
  39. what is the chance of having another affected child??
    rare, sex linked recessive
  40. what is the chance of having another affected child??
    trisomies of autosomes
    slight increase over general populations
  41. what is the chance of having another affected child??
    multifactorial inheritance
    • usually < 10%
    • look at emperical risk figures
  42. information to gather before genetic counseling
    • what is the exact diagnosis
    • know facts/family history (pedigree)
  43. refer cases requireing genetic counseling
  44. red flags of genetics
    • Family: history
    • G: groups of congenital abnormalities
    • E: extreme/exceptional presentation
    • N: neurodevelopmental delay/degeneration
    • E: extreme/exceptional pathology
    • S: surprising lab values
  45. reasons for prenatal diagnosis
    • 1. late maternal age (35+)
    • 2. prior child with chromosomal defect
    • 3. history of miscarriage
    • 4. known defect in parent
    • 5. family history of genetic disease in high risk ethnic group
  46. new therapies for genetic defects
    • soon available
    • not cures
  47. high-tech genetic therapies include
    • DNA analysis and repair
    • disruption of defective genes
  48. hemochromatosis inheritance
    autosomal recessive
  49. huntingtons disease inheritance
    autosomal dominant
  50. osteogenesis imperfecta inheritance
    autosomal dominant
  51. neurofibromatosis type 1 inheritance
    autosomal dominant
  52. achondroplasia inheritance
    autosomal dominant
  53. marfan's syndrome inheritance
    autosomal dominant
  54. polycystic kidney disease inheritance
    autosomal dominant
  55. Phenylketonuria inheritance
    autosomal recessive
  56. albinism inheritance
    autosomal recessive
  57. tay-sachs disease inheritance
    autosomal recessive
  58. cystic fibrosis inheritance
    autosomal recessive
  59. familial hypercholesterolemia inheritance
    autosomal co-dominant inheritance (Aa- semi affected)
  60. sickle cell anemia
    autosomal co-dominant inheritance (Aa= semi affected)
  61. klinefelters syndrome
    male with female-like qualities
  62. turner's syndrome
    female with male-like qualities
  63. hemophilia A inheritance
    x-linked recessive
  64. common colorblindness inheritance
    x-linked recessive
  65. duchenne-type MD inheritance
    x-linked recessive
  66. fragile-x syndrome inheritance
    x-linked recessive
  67. male pattern baldness inheritance
    x-linked recessive
  68. adolescent idiopathic scoliosis
    • multifactorial linheritance
    • scoliosis- multiple forms, AIS most common
    • common: females have larger curves than males
    • autosomal dominant with reduced penetrance
    • penetrance: 60%
  69. spondys
    • multifactorial inheritance
    • condition of pars interarticularis, common source of LBP
    • common
    • autosomal dominant with reduced penetrance
    • penetrance: 40%
  70. congenital dislocation fo the hip
    • multifactorial inheritance
    • displacement of the femoral head outside the acetabulum prior to or slightly after birth
    • common in caucasians
    • autosomal dominant with reduced penetrance
    • shown to run in families, more in females
  71. ankylosing spondylitis
    • multifactorial inheritance
    • autoimmune spondyloarthopathy condition
    • chronic, painful, progressive inflammatory arthritis affecting primary spine and SI joint leading to fusion
    • associated with HLA-B27
    • familial aggregation and genetic predisposition
  72. Neural tube defects
    • multifactorial inheritance
    • embryonic failure to fully close the developing tube
    • listed as autosomal dominant
    • 1 in 1,000 people
    • recurrent risk is 4% in siblings
  73. pyloric stenosis
    • multifactorial inheritance
    • substantial narrowing of the stomach pylorus
    • significant hypertrophy and hyperplasia of the pylorus
    • not uncommon: 1 in 400
    • autosomal dominant with reduced penetrance
    • threshold trait- will occur when multiple factors cause an anomalous variation in the pylorus
  74. cleft lip/palate
    • multifactorial inheritance
    • developmental failure of fusion of maxillary process and frontal process
    • not uncommon: 1 in 700
    • autosomal dominant with variable expressivity/severity
  75. recurrent risk of cleft palate
    • previous child: 2%
    • parent had it: 6%
    • previous child and parent had it: 15%
  76. club foot
    • multifactorial inheritance
    • congenital anomalies characterized by a foot that is twisted in and down
    • colloquial term for a collection of skeletal deformities that include talipes equinovarus
    • autosomal dominant with reduced penetrance
  77. diabetes mellitus
    • multifactorial inheritance
    • common and on the rise: 1 in 3
    • type 1= autoimmune, type 2= insulin resistance
  78. recurrent risk of type 2 DM
    • sibling: 40%
    • child: 33%
  79. hypertension
    • when of unknown origin it is deemed essential which is about 95% of cases
    • polygenic because there are a number of genes that contribute to it
  80. eugenics
    • application of selective principles upon mankind by mankind
    • positive: encouraging those with desirable traits to reproduce (Hitler)
    • negative: discouraging those with undesirable traits from reproducing
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Genetics Final
Genetics Final
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