Genetic Disorders Flashcards
1
Q
Base Pair substitution
A
One base is substituted for another
Silent, Missense, Nonsense
2
Q
Frameshift Mutation
A
Insertion or deletion of one or more base pairs
Causes a change in in the entire reading frame
3
Q
Non Mutation alterations
A
Polymorphisms
Epigenetic changes
Alterations in non-coding RNAs
Translocation
4
Q
Polymorphisms
A
- Single nucleotide polymorphisms
- Common variation at a single nucleotide position
- Copy number variations
- Abnormal number of copies of one or more sections of the DNA
5
Q
Epigenetic Changes def
A
Non-DNA changes, ex alteration in gene or protein expression
6
Q
Alterations in non-coding RNAs def
A
Reg genes that do not code for proteins
7
Q
Translocations
A
- Interchanging of material between nonhomologous chromosomes
- Translocation occurs when 2 chromosomes break and segments are rejoined in an abnormal arrangement
8
Q
Euploid Cell
A
Has the normal amount of chromosomes
Different for haploid and diploid
9
Q
Polyploid
2 examples
A
- Cell has a multiple of 23
- Triploid
- 3 copies of each chromosome
- Tetraploidy
- 4 copies of each
- Both are embryonic lethal
10
Q
Aneuploidy
A
- A somatic cell that does NOT contain a multiple of 23 chromosomes
- Trisomy
- 3 copies of 1 chromosome
- Monosomy
- 1 copy of any chromosome
- Often lethal
11
Q
Nondisjunction
A
- Disjunction-normal seperation of chromosomes during cell division
- Nondisjunction usually causes aneuploidy
- Failure of homologous chromosomes or sister chromatids to seperate normally during meiosis or mitosis
12
Q
Trisomy 13
A
- Patau Syndrome
- Polydactyly, mental retardation, microcephaly
- Rare
- Cleft lip and palate
- Usually lethal in life due to heart deformities
13
Q
Turner Syndrome
A
- Sex chromosome aneuploidy
- Only 1 X chromosome
- XO female
- Undeveloped ovaries and breasts (sterile)
- Webbing of neck
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