Molecular Genetics — Flashcards

Flashcard 281: Hirschsprung disease is associated with inactivating mutations in the _____ gene

Answer: RET

Extra:  Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/colorectal-pathology?index=6] https://onlinemeded.org?ref=anki  Atlas: 

Flashcard 282: What type of oncogene is KIT? _____

Answer: Stem cell growth factor receptor

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Flashcard 283: Does a uniparental disomy result in euploidy or aneuploidy? _____

Answer: Euploidy

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Flashcard 284: What process is used to genomically "imprint" DNA during gametogenesis? _____

Answer: DNA Methylation

Extra: Watch Disorders of Imprinting (Prader-Willi & Angelman Syndromes) [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-disorders-of-imprinting-and-microdeletion-disorders-of-imprinting-prader-willi-and-angelman-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=2] https://onlinemeded.org?ref=anki

Flashcard 285: The proteins Bcl-2 and Bcl-xL normally stabilize the _____, preventing pro-apoptotic proteins from leaving the mitochondrial intermembrane space

Answer: outer mitochondrial membrane

Flashcard 286: Different exons are frequently combined by _____ to produce a larger number of unique proteins

Answer: alternative splicing

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Flashcard 287: What is the mode of inheritance of sickle cell anemia? _____

Answer: Autosomal recessive

Extra:   Watch Autosomal Recessive Diseases [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-autosomal-recessive-diseases-autosomal-recessive-diseases?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Sickle Cell Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-sickle-cell-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=4] https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki Other: 

Flashcard 288: The Cell Cycle is regulated by Cyclins and Cyclin-Dependent Kinases (CDKs) which when complexed allow cells to bypass _____

Answer: restriction points (checkpoints)

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/mitosis-meiosis-and-the-cell-cycle?index=8] https://onlinemeded.org?ref=anki 

Flashcard 289: What pathology is associated with a defect in the enzyme N-acetylglucosaminyl-1-phosphotransferase? _____

Answer: I-cell disease (inclusion cell disease/mucolipidosis type II)

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Flashcard 290: The genes that are responsible for the generation of homeodomain proteins are the _____ gene and _____ gene

Answer: homeobox (HOX)

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