Mitochondrial Genetics and Forensic DNA Analysis (8) Flashcards
Common types of disorders associated with mitochondrial DNA mutations?
1- Neuropathies
2- Encephalopathies
3- Myopathies
What type of inheritance does mitochondrial DNA show?
Matrilineal inheritance
What type of tissues do mitochondrial mutations generally effect?
Tissues in which there is a high degree of Ox/ Phos activity
What is homoplasmy?
Refers to a population of mitochondria that all have the same genetic composition
What is heteroplasmy?
Refers to 2 different populations of mitochondria in one cell (they do not all have the same genetic composition)
For which, homoplasmy or heteroplasmy, is the following true:
Mother my be affected by have an unaffected child
Heteroplasmy
How do mitochondrial disorders present?
Often progressive with late onset because of an increase, overtime, in the number of mutations per cell and the number of mutant cells
What is replicative segregation?
As cells divide, the relative proportions of mutant mitochondria may change overtime
Which has a higher mutation rate…mitochondrial or nuclear DNA?
Mitochondrial
True or false: One mutation can be expressed differently in different tissues.
True
What is forensic DNA analysis?
Use of DNA technologies to obtain information of the genetic identity of an individual and how it relates to a criminal, minimal or scientificinvestigation
Why is forensic DNA analysis possible?
Because of sequence variability with a high degree of polymorphisms.
Nuclear DNA has hypervariable minisatellite regions that allow for DNA fingerprinting
Which is used in forensic analysis…nuclear or mitochondrial?
Both
Name some sources of error in forensic DNA analysis?
Quality of specimen
Statistical analysis and interpretation
What is mitochondrial DNA analysis helpful in?
1- Maternal inheritance
2- Siblings
3- Link individuals by comparing maternal mitochondrial lineages
4- Family identity
