Molecular Methods Flashcards
Approximately how many genes are in the human genome?
21,000
What is a phenotype?
The observed expression of the genes of an individual
What is the term to describe the genetic constitution of an individual?
Genotype
What is a locus?
The location of a gene
What is the term given to the first person in a pedigree who initially comes into the clinic?
Propositus
What symbol is traditionally used in a pedigree when sex is unspecified?
A diamond
What symbol is used in pedigrees to denote females?
Circles
What is genetic heterogeneity?
The principle that different mutations can cause different or similar phenotypes
What are the two types of genetic heterogeneity?
Allelic heterogeneity and locus heterogeneity
What does allelic heterogeneity refer to?
Different mutations in the same locus
What does locus heterogeneity refer to?
Different mutations at different loci
What is penetrance?
The percent of people with a mutation with an observable phenotype?
What factors influence penetrance?
Modifier genes, carcinogens, response to DNA damage, and hormonal/ reproductive factors
What is genetic expressivity?
The extent to which a givengenotypeis expressed at the phenotypic level
What are the four P’s of P4 medicine?
Personalized, Predictive, Preventative, and Participatory
