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13 Cards in this Set

  • Front
  • Back
What is a transcription factor?
a protein that binds to specific DNA sequences, thereby controlling the flow (or transcription) of genetic information from DNA to mRNA.
What is added at the 5' end and the 3' of the primary transcript?
a 'cap' and Poly (A), repsectively
Non-disjuntion in meiosis 1 leads to what type of gametes and what type of cells
nullisomic gametes producing monosomic cells (45 ch'somes)
Non-disjuntion in meiosis 2 leads to what type of gametes and what type of cells
Disomic gametes producing trisomic cells (47 ch'somes)
All cases of monosomy are lethal except one - what is it? How does it manifest?
Turner syndrome (45 ch'somes, X0).
Failure to develop secondary sexual characteristics. Gonads degenerate to connective tissue at birth
What is another name for trisomy 21?
Down syndrome
Name 3 trisomies in the sex chromosome and what problems they cause?
Triple-X sydrome (XXX). Some mild retardation, 25% inferile.
Jacob's syndrome (XYY). Usually asymptomatic (possible motor coordination problems).
Kinefelter's syndrom (XXY). Mild learning difficulties and infertility.
Some triplet repeat diseases exhibit anticipation. What is meant by this?
Repeats can increase in successive generations. Can lead to progressively earlier onset in each generation.
What causes Huntington's disease?
A triplet repeat expansion (>36) of CAG within the huntington gene. When expressed this mutant gene leads to the damage of nerve cells
What causes Fragile X syndrome?
the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development
State 3 molecular explanations for dominant diseases mutations
Haploinsufficiency.
Dominant negative effect
Gain of Functional effect
What is incomplete penetrance (Genetics)
Dominant disorders are not apparent in all individuals.
What is heterozygote advantage in the case of sickle cell anaemia
Homozygotes suffer from sickle cell anaemia but heterozygotes don't and have additional resistance to malaria