Genetics Unit 9: Non-Mendelian Inheritance Flash Cards

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Title: Genetics Unit 9: Non-Mendelian Inheritance
Description: flashcards for genetics unit 9
Number of Cards: 9
Save Count: 0
Author: tmak5tx
Created: 2012-01-19
Tags: inheritance non-mendelian
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    • Question
    • Answer
    • Side 3
    • Characteristics of mitochondiral DNA
    • 1) Circular
      2) 37 Genes
      3) Derived from mother (oocyte)
    • Homoplasmy
    • All mitochondrial DNA in a cell are the same (either all normal or all mutated). Occurs during meiosis 2.
    • Heteroplasmy
    • More than one type of mitochondrial DNA in a cell. Occurs during meiosis 1. Can lead to phenotypic variance in a disease.
    • Replicative Segregation
    • When cell divides, mitochondria must also divide. Different organs and different cells within organs may receive different proportions of mutant mitochondrial DNA.
    • Most effected tissues of mitochondrial diseases.
    • Those with large ATP requirements:
      CNS
      Striated and cardiac muscle
      Kidney
      Liver
    • When does somatic mosaicism occur?
    • A gene mutation or chromosomal abnormality during Mitosis. Is not inherited from parent.
    • Trisomy Rescue
    • Most common mechanism for uniparental disomy. When a trisomy chromosome loses one of its extra chromosomes in anaphase lag. If the 2 remaining are from the same parent, get UPD.
    • Prader Willi Syndrome
    • Caused by a microdeletion of 15q at the fathers donated chromosome. However, can also be caused by maternal UPD of 15 because missing genes which cause the syndrome also happen to be maternally imprinted.
      Hypotonia, feeding problems followed by no satiety control, short, small hands and feet, hypogonadism.
    • Angleman Syndrome
    • Caused by a deletion of 15q on the maternally inherited chromosome. Also can be due to paternal UPD at 15.
      Severe cognitive and speech impairment, gait ataxia, paroxysms of laughter, big mouths.