Genetics

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jonas112
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173767
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Genetics
Updated:
2012-12-11 11:25:23
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genetics
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Genetics
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  1. What is the cytogenetic nomenclature for:
    1) Turner Syndrome
    2) Klinefelter Syndrome
    3) Down's Syndrome
    • 1) 45,X
    • 2) 47,XXY
    • 3) 47,XY+21
  2. What else can genetic imprinting look like?
    • 1) autosomal dominant
    • 2) autosomal recessive
    • 3) x-linked recessive
    • 4) multifactorial traits
  3. Name 4 imprinting syndromes:
    • 1) Beckwith-Wiedemann
    • 2) Prader-Willi
    • 3) Angelman
    • 4) Russel-Silver

    Mnemonic: BackWards People Will Always Rule Syria
  4. Name 6 repeat disorders:
    • 1) Fragile X (large, outside)
    • 2) Huntington Disease (modest, inside, late onset)
    • 3) Kennedy Disease (modest, inside, late onset)
    • 4) The SCA diseases (modest, inside, late onset)
    • 5) Myotonic Dystrophy 1/2 (large, outside)
    • 6) Friedrich ataxia (large, outside)

    Mnemonic: Fathers Hate Kicking Some Mothers
  5. 3 Autosomal Dominant
    • 1) Gonadal Mosaicism
    • 2) Huntingtons
    • 3) Neurofibromatosis (cafe au lait spots, neurofibromas)
  6. 3 Autosomal Recessive Diseases
    • 1) Tay Sachs
    • 2) Sickle Cell
    • 3) Cystic Fibrosis
  7. 2 types of x-linked recessive disorders
    • 1) Hemophilia A
    • 2) Duchenne Muscular Dystrophy
  8. name an X-linked dominant disease
    Rickets
  9. Areas prone to thalassemia
    • Everywhere except Japanese,
    • Korean, Caucasian of Northern European ancestry, First Nations or Inuit should
    • be screened
  10. If Maternal Serum Screening detected down syndrome, what would you see?
    • T1: increased hCG; increased NT; decreased PAPP-A
    • T2: increased hCG; increased DIA; decreased AFP; decreased UE3
  11. Areas prone to sickle-cell anemia
    • 1) Africa
    • 2) Mediterranian
    • 3) Middle East
    • 4) SE asia (parts of india)
    • 5) Carribbean
    • 6) South America
  12. Disorders of intermediary metabolism that give rise to
    “intoxication”
    • a)       Amino acid disorders: e.g. Phenylketonuria (PKU)
    • b)       Organic acid disorders: e.g. Methylmalonic acidemia (MMA)
    • c)       Urea cycle disorders: e.g. Carbamylphosphate synthetase (CPS) deficiency
    • d)      Carbohydrate disorders: e.g. Galactosemia (Classic)
  13. Disorders of energy generation
    • a)       Glycogen storage disorders: e.g. Glycogenosis type Ia
    • b)       Gluconeogenesis defects (rare): e.g. Pyruvate carboxylase deficiency
    • c)       Mitochondrial respiratory chain disorders :e.g. Leigh disease
    • d)      Fatty acid oxidation disorders: e.g. Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
    • e)       Ketone metabolism disorders (rare) e.g. Mitochondrial HMG-CoA Synthase Deficiency
  14. Disorders of complex molecules
    • 1) Lysosomal storage disorders (e.g. Hurlers)
    • 2) Peroxisomal Disorders
    • 3) Congenital Disorders of glycosylation
    • 4) Inborn errors of control synthesis
  15. Characteristics of autosomal dominant
    • expect to see in several generations
    • an affected person will have an affected parent
    • each offspring has a 50% chance of inheriting trait
    • males and females transmit equally
  16. define and contrast expressivity and penetrance
    • expressivity: is the severity of the expression at the phenotype level, different types of expression
    • penetrance: the probability that a gene will have any expression (looking at a population level)
  17. Characteristics of x linked recessive
    • mainly males affected
    • no male to male transmission
    • all daughters of an affected male are carriers
    • each son of a carrier female has a 50% chance of being affected
    • each daughter of an carrier female has a 50% chance of being affected
  18. What are the characteristics of X-linked dominant
    • Each daughter has a 50% chance of being affected if mom is affected
    • no male to male transmission
    • each daughter of a male carrier will be affected
    • each son of an affected female has a 50% chance of being affected
  19. Characteristics of autosomal recessive
    • If trait appears in family pedigree, it is generally only in siblings
    • affects males and females in equal numbers
    • 25% recurrence risk if both parents are carriers
    • more suspicious if there is consanguinuity
  20. Rules of multifactorial inheritance
    1.Recurrence risk is higher if more than one family member is affected.

    2.The greater the severity, the higher the recurrence risk.

    3.Recurrence risk is greater if the proband is of the less commonly affected gender.

    4.Recurrence risk decreases rapidly in more distantly related individuals.

    5.Recurrence risk for first degree relatives is approximately the square root of the population incidence of the trait.
  21. What are some clinical indications for chromosome analysis?
    • 1) problems of early growth/development
    • 2) still births and neonatal deaths
    • 3) fertility problems
    • 4) family history of genetic problems
    • 5) prenatal diagnosis
    • 6) neoplasia (formation of new tissue)
  22. Cell sources for karyotyping
    • peripheral blood (most common);
    • umbilical cord blood (cordocentesis)
    • fibroblasts (skin biopsy)
    • amniocytes (amniocentesis)
    • chorionic villi (chorionic villus sampling)
  23. symptoms of DMD, how to detect?
    • gowers sign
    • late walking
    • Elevated creatine kinase
    • multiplex PCR first, looking for a bum dystrophin gene (large deletions).
  24. What are some good indications that invasive prenatal diagnostic testing is appropriate.
    • Advanced maternal age
    • previous stillbirth/livebirth with chrom. abnormality
    • family history of chrom. abnormality
    • family history of single gene abnormality
    • family history of x-linked recessive
    • abnormal pregnancy screening or ultrasound
    • test tube baby
    • risk of NTD
    • moaisism
  25. List some minor abnormalities
    • single transverse palmar crease
    • Clinodactyly
    • Hypertelorism (increased distance between organs)
  26. Name 4 modes of pathogenesis of anomalies
    • 1) Deformation (due to mechanical deformation, e.g. club feet)
    • 2) Disruption (interference with an originally normal developmental process, FAS)
    • 3) Dysplasia (abnormal organization of cells into tissues, achondroplasia)
    • 4) Malformation (due to an intrinsically abnormal development process, cleft lip and palate)
  27. Name 4 patterns of anomalies
    • 1) Sequence (pattern of anomalies derived from a single defect, oligohydraminos)
    • 2) Developmental Field Defect (disturbed development of a related group of cells, limb-body wall complex)
    • 3) Syndrome (recognized pattern of anomalies that has a unique set of symptoms, Down's)
    • 4) Association (related, but we don't know why, VATER association)
  28. What is involved in the VATER association?
    • Vertebral defects
    • Anal atresia
    • TE fistula
    • Radial/Renal dysplasia
  29. Symptoms of Down's
    • Nuchal skin
    • single crease
    • brachycephaly
    • congenital heart defects
    • usually sterile men
  30. Name and lethality of trisomy 18
    • Edwards
    • semilethal, only 50% make it past the first week
    • more than 6 arches
  31. Name and lethality of trisomy 13
    • patau syndrome
    • most dont last a month
    • polydactyly

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