Mendelian Inheritance Flashcards
Human genetic information is contained within how many pairs of chromosomes?
23
What are homologous chromosomes called?
Autosome chromosomes
Are the daughter cells produced my meiosis, haploid or diploid?
haploid
In whom are sex-linked diseases more commonly seen?
Males
What is the definition of proband?
A person presenting with the disorder
What is usually an impact of Y linked conditions?
The individuals are sterile
What are the 3 laws of mendelian inheritance?
Law of Dominance
Law of Segregation
Law of Independent assortment
What are the mechanisms of incomplete penetrance?
Envirnomental factors
Genetic modifiers
What is penetrance?
The frequency with which a trait is manifested by individuals carrying the gene/
What is the penetrance of cystic fibrosis?
100%
What other factors are taken into consideration to explain the severity of CF in organs?
Genetic modifiers
Environmental factors
What is genomic imprinting?
When genes are expressed from only one chromosome
What is uniparental disomy?
Inheritance of a chromosome pair from one parental origin
What fixes Trisomy?
Non-disjunction
Why is the mitochondrion a mutation hotspot?
Lack of efficient repair system
Lack of protective proteins
