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5 Written questions

5 Matching questions

  1. Phenotype of PWS?
  2. Peptide folding
  3. Types of Expansion Repeats Class III
  4. Why find disease genes?
  5. What other chromosomes are implicated in creating the male sex (which, when mutated, can cause sex reversal)?
  1. a Understanding biological defect/how to treat is accelerated by finding disease genes
  2. b Chromsomes 9 (SF1), 11(WT gene---diff. of mesoneph, Wolffian ducts), 17(Sox 9)
  3. c Hypotonic, Almond eyes, feeding problems initially which reverse in toddler years, lighter pigmentation, undescended testicles
  4. d Hemoglobinopathies (unstable blobins degraded) Hglobin Hammersmith
  5. e Expansion of codons in exons/NOVEL

    Mutant/novel RNA made, mutant/novel/toxic protein made

    Spinocerebellar Ataxia

5 Multiple choice questions

  1. Increased distance/unlinked-ness
  2. Role of genetic/env. factors varies from individual to individual. Population "general" rules don't necessarily work at individual level
  3. AR
    Testosterone can't mature into dihydrotestosterone with incomplete phallic dev. sever hypospadias
  4. Slipped mispairing of repeat sequences results in change in stability and expansion of repeats

    Increasing repeats increases disease severity

    **Anticipation is the clinical obs. of disease severity worsening in subsequent generations
  5. Hyp. Free
    Studies genes indirectly
    Search genome for segments disproportionately co-inherited
    Assumes aff. relatives share disease
    Discovers new, unknown genes
    Provides fine localization
    Good for Mendelian traits

5 True/False questions

  1. 3 most commonly used types of DNA polymorphismsBrachecelphaly, Mid face hypoplasia, upslanting palpebral fissures, epicanthal folds, brushfield spots, dysplastic small pinnae, heart murmer, genitalia may be abnormal, incurving pinky finger, bracehdactyly, increased space between toes, increased joint ROM, diffuse hypotonia


  2. Deletions on Chromosome 15Maternal deletion of 15q11-q13 or paternal uniparental disomy, imprinting error, mutation in UBE3A can result in Angelman's Syndrome


  3. Pseudohermaphroditismabnormal devleopment of genital sex
    external phen/sex assignment is at odds with genetic (karyotype) and gonadal (internal sexual organs)

    Masculinized females (exposed to androgens during development)

    Males with underdeveloped or ambiguous genitalia (can't produce or respond to testosterone)


  4. How is genetic sex determined?1. Sex independent pregonadal stage (migrate to gonads)
    2. Gonadal stage (develop and mature)


  5. 47, XYY 1/900-1/1000Klinfelter's
    gonadal dysgenesis
    decreased testosterone, failed maturation of spermatogonia, tall, gynecomastia, increased impulsive behavior