Genetics and Neoplasm Flashcards
What is penetrance?
The % of individuals who will present with the phenotype of a specific genotype
What is an autosomal dominant disorder?
when the offspring receives at least one mutated gene from a parent regardless of sex
When does onset usually occur in a person with an autosomal dominant disorder?
later in life; adulthood
Is a person with an autosomal dominant disorder a carrier?
No
What are examples of autosomal dominant disorders?
Marfan’s syndrome, neurofibromatosis, Huntington disease
T/F. Autosomal dominant disorders usually involve regulatory proteins or key structural components.
True
What is an autosomal recessive disorder?
When the offspring receives affected gene from each parent.
When does onset usually occur in an autosomal recessive disorder?
early in life
How are autosomal recessive disorders different than dominant disorders?
They are far more severe and usually results in loss of function
What are the chances that the offspring will be affected by an autosomal recessive disorder?
1 in 4
How can the child be a carrier but not affected by the autosomal recessive disorder?
if only one parent passes on the mutated “non working” gene
What are the chances that a couple can have a healthy child in an autosomal recessive disorder?
3 in 4
What are the only two ways that a child can be affected by an autosomal recessive disorder?
Both parents have to be affected or carriers
What are examples of autosomal recessive disorders?
Tay Sachs, cystic fibrosis, and PKU
What is X linked recessive inheritance?
abnormalities on the X chromosome.
