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5 Written questions

5 Matching questions

  1. Deletions on Chromosome 15
  2. Mendelian Sexual Disorders
  3. 45X--1/2000-5000
  4. GWAS
  5. Co factor/Prosthetic group binding
  1. a Testicular Feminization, Congential Adrenal Hyperplasia, 5alpha reductase deficiency, Leydig Cell Hypoplasia, Smith Lemli Optiz, Kallman
  2. b Turner's Syndrome
    Female genital and gonadal development
    Short stature, perceptual disorders, anatomic maldevelopment gonadal dysgenesis, heart and kidney problems
  3. c tests many SNPs across genome,
    Still need to match cases/controls
    Easy to perfrom multiple testing correction
    Need more controls
    Need to confirm each significant hit individually
  4. d Homocystinuria due to poor binding of cofactor to cyst. synthase apoenzyme
  5. e Maternal deletion of 15q11-q13 or paternal uniparental disomy, imprinting error, mutation in UBE3A can result in Angelman's Syndrome

5 Multiple choice questions

  1. Extra marker chromsome, results in hypotonia, autism, siezures
  2. Hyp. driven
    Studies gene directly
    good for mendelian/complex
    most hyp. wrong
    have to apply bonferroni correction

    can look for variations in candidate gene tagged by nearby markers between cases and controls

    Must match
    Watch out for stratification (leads to false positives)
  3. SNPs on GABA locus of chromsome 15
  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. Mesonephros

5 True/False questions

  1. What are characteristics of disease that have multifactorial inheritanceDiabetes, Alzheimers, Cleft lip and Cleft palate

          

  2. 5 Alpha Reductase DeficiencyAR
    Testosterone can't mature into dihydrotestosterone with incomplete phallic dev. sever hypospadias

          

  3. When does nonrandom X inactivation occur?X chromsome is abnormal or there is an X;autosomal translocation

          

  4. Exome/Genome SequencingBoth Hyp. Free and Driven

    Genomic DNA---hybridize various sequences to probes---shot gun library--DNA sequencing---mapping/alignment/variant cloning

    Lots of genomic noise, but cheap, distinguishes causal var. from non path. var.

          

  5. What are Medical Problems associated with DSIncomplete penetrance, Variable expressivity, Allelic/Locus Heterogeneity, Phenocopies (disease mimics genetic version but it's caused for non genetic reasons--limb malformation)

          

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