Genetic Disorders Flashcards Preview

MOD Test 1 > Genetic Disorders > Flashcards

Flashcards in Genetic Disorders Deck (13)
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1
Q

Mendelian Disorders

A
  • mutation in a single gene with large effects, but strong selective forces maintain mutation in a population
  • RARE, high penetrance
  • i.e. sickle cell anemia
2
Q

chromosomal disorders

A

structural or numerical alterations in autosomes and sex chromosomes

  • uncommon, high penetrance
3
Q

complex multigenic disorders

A
  • more common, low penetrance
  • environment and gene interactions (polymorphisms)
  • i.e. atherosclerosis, DM, HTN, autoimmune disease
4
Q

mutation

A

permanenet change in the DNA

5
Q

germ cell mutation

A

gives rise to inherited disease

6
Q

somatic cell mutation

A

give rise to CA and congenital malformations

7
Q

missense mutation

A
  • point mutation

- alter meaning of sequence of the encoded protein

8
Q

sickle cell mutation

A

missense mutation, glutatmic acid to valine in Beta-globin chain of hemoglobin

9
Q

nonsense mutation

A
  • point mutation

- changed to stop codon

10
Q

frameshift mutation

A

deletion or insertion that is NOT a multiple of 3, alteration in a reading frame

11
Q

multiple of 3 deletion or insertion

A

reading frame intact- abnormal protein

12
Q

trinucleotide-repeat

A

amplification of a sequence of 3 nucleotides, almost all contain guanine and cytosine

13
Q

anticipation

A

a genetic disorder that is passed on to the next generation, the symptoms become apparent at an earlier stage with each generation. Most times, an increase in severity of Sx is also noted