20) Genetic nature and molecular causes of genetic diseases and defects Flashcards
1
Q
Genetic nature causes of genetic diseases and defects can be split into…
A
- Monogenic inheritance
- Polygenic inheritance
2
Q
Monogenic inheritance
A
- Single gene
- Mendelian inheritance
3
Q
4 types of Mendelian inheritance
A
- Autosomal recessive
- Dominant
- X-linked dominant/recessive
- Complex inheritance
4
Q
Give an example of complete inheritance
A
Manx cat
- No tail*
- If two none-tailed cats breed → Misscariage*
5
Q
Give an example of co-dominant inheritance
A
Merle colour in dogs is linked with deafness
6
Q
Recessive inheritance
A
Most typical inheritance type
7
Q
Monogenic diseases are…
A
- Usual autosomal
- Rarely x-linked
8
Q
Give examples of x-linked diseases
A
- Tremor
- Haemophilia
- Nephritis
9
Q
Polygenic inheritance
A
- Several genes
- Inborn errors of metabolism
- Phenocopy
10
Q
Inborn errors of metabolism
A
- Enzyme mutation causes enzyme deficiency
- Pathway of enzyme is blocked
- Abnormal accumulation in tissues
11
Q
Phenocopy
A
- Alternation of phenotype by nutritional factors or environment
- Rickets = phenocopy due to vitamin D deficiency
12
Q
Molecular causes of genetic diseases and defects
A
- Point mutations
- Trinucleotide expansion and insertion mutations
- Chromosomal abbreviations and abnormalities
13
Q
Types of point mutation
A
- Frequent and typical
- Mis sense
- Non sense
- Same sense
14
Q
Frequent and typical
A
Base change in a change
15
Q
Mis sense
A
- A nucleotide is substituted for another
- Codon will code for another amino acid
- Canine haemophilia
- Bovine leukocyte adhesion deficiency (BLAD)
