Flashcards in Patterns of Inheritance (Part 1) Deck (18):
Sequence of DNA that codes for a protein, including regulatory regions
Location of gene on chromosome
Different forms (versions) of a gene
Multiple forms (alleles) of a gene in population
Possess same allele at a locus
Possess different alleles at a locus
Require only one copy of the mutation to produce disease
Requires TWO copies of the mutation to produce disease
An allele is one of the alternate forms of a gene that occur at a ___.
Define recurrence risk
Probability of the offspring of a couple will express the genetic disease.
- For single gene disorders, it does not depend on the number of previously affected/ unaffected offspring.
Recurrence risk depends on what?
Mode of inheritance of a disease
The AFFECTED INDIVIDUAL in the family who has approached the physician for consultation.
Define monozygotic twins
-Arise as a result of fertilization of a single zygote.
-Possess identical genes
Define dizigotic twins
-Arise as a result of fertilization of two ova
-Genetically share about 50% genes (sibling)
Autosomal dominant disorders manifest in which state?
What are the characteristics of Autosomal Dominant disorders when looking at pedigree?
- Affected children receive disease causing gene from affected parent.
- Skipped generations NOT common (Vertical inheritance)
- Males and females are affected with equal frequency
- Male to male transmission is seen
How is the affected parent depicted as for autosomal dominant disorder? Normal parents?
Affected parent: Aa
Normal parent: aa