NAME

Question types


Start with


Question limit

of 88 available terms

Advertisement Upgrade to remove ads
Print test

5 Written questions

5 Matching questions

  1. Interstitial duplication on Chromosome 15
  2. Mullerian
  3. Subcellular localization of Polypeptide
  4. Phenotype of Angelman's Syndrome
  5. What are challenges for TS patients across lifespan
  1. a maternally inherited, hypotonic, autism, siezures (people with duplication of paternal part are normal)
  2. b Paramesonephros
  3. c Familial Hypercholesterolemia (mut. in LDL receptor impairs localization of rec. preventing internalization/recycling)
  4. d Mild hypotonia which turns to spasticity, increased intellectual disabilities compared to PWS, autism, seizures, No feeding or obesity issues, prominent chin, seen in couples who turn to ART
  5. e Infertility, Stature, Sexual Dev. Concerns regarding health and aging

5 Multiple choice questions

  1. Chromsomes 9 (SF1), 11(WT gene---diff. of mesoneph, Wolffian ducts), 17(Sox 9)
  2. Mutation, Chromosomal Sorting, Meiotic Recombination, Imprinting
  3. SRY activates TF (HMG DNA binding protein) which opens chromsome for transcription
  4. deletions, insertions, rearrangements that eliminate or reduce the function of the protein

    DMD, Thalassemia, Turner, Hereditary Rboma,HNPP, OI 1, Metabolic and Protein Function diseases
  5. gonadal sex (have male internal/external sexual organs) is opp. karyotype, translocation of Y to autosome

5 True/False questions

  1. How is genetic sex determined?Presence of Y chromsome---default is female without it

          

  2. Leydig Cell HypoplasiaHemoglobinopathies (unstable blobins degraded) Hglobin Hammersmith

          

  3. 10-15% of genesMesonephros

          

  4. GWASdeletions, insertions, rearrangements that eliminate or reduce the function of the protein

    DMD, Thalassemia, Turner, Hereditary Rboma,HNPP, OI 1, Metabolic and Protein Function diseases

          

  5. Function of correctly folded Assembled/localized prtien prdcd in nrml amountsHglobin Kempsey
    impaired subunit interaction locks it in a high 02 state

          

Create Set