Pedigree Analysis Flashcards
What symbol represents unaffected individuals?
Open symbols
What symbol represents affected individuals?
Filled symbols
What symbol represents females?
Circles
What symbol represents males?
Squares
What are the categories of inheritance?
Autosomal recessive Autosomal dominant X-linked recessive X-linked dominant Mitochondrial
What would make a mutation autosomal?
If it is on an autosomal chromosome
What would make a mutation recessive?
When heterozygotes do not have the disease because the enzyme activity is sufficient
What is present in an AD pedigree chart?
Found in each generation
Affects males and females equally
Father to son transmission is possible
What would make a mutation dominant?
When heterozygotes do have the disease
What is present in an XR pedigree chart?
Skips generations
More common in males
If the father is affected then all the daughters carry it but no sons are affected
If the mother carriers it then the sons might be affected and the daughters might be carriers
Why would something be X-linked?
It is in the unique part of X
What is found in a typical XD pedigree chart?
Found in each generation
Affects males and females equally
If the mother is affected then sons and daughters might be affected
If the father is affected then all daughters are affected but no sons are affected
What is mitochondrial inheritance?
Only the mother can pass on the mitochondria, if the oocyte carriers a mutant allele then the child will be affected
What is found in a typical M pedigree chart?
If the mother is affected then all offspring is affected
If the father is affected then no offspring is affected