Pedigree Stuff Flashcards
This disorder only occurs in individuals who have 2 copies of a mutation…
autosomal recessive
What is it called when someone has 2 different mutations (but in the same gene)?
COMPOUND Heterozygous…can be a part of autosomal recessive
In autosomal recessive, Heterozygotes (carriers) are not _______.
Clinically Affected
What type of inheritance? Sickle cell anemia
Autosomal Recessive
What type of inheritance? Cystic Fibrosis
Autosomal Recessive
What type of inheritance? Amelogenesis Imperfecta
Autosomal Recessive
This factor suggests which type of inheritance: Single generation affected (horizontal transmission)
Autosomal Recessive
This factor suggests which type of inheritance: Both males and females affected
Autosomal Recessive
This factor suggests which type of inheritance: Consanguinity (parents are related even
if several generations back)
CONSANGUINITY: AUTOSOMAL RECESSIVE
This factor suggests which type of inheritance: Parents from isolated area or genetic isolates
Autosomal Recessive
This factor suggests which type of inheritance: Only one mutation is required for disorder to be present
Autosomal Dominant
This factor suggests which type of inheritance: most individuals only have 1 mutant allele
Autosomal Dominant
This factor suggests which type of inheritance: Some _______ disorders have high mutation rates
autosomal dominant
What type of disorder? Achondroplasia
Autosomal Dominant
What type of disorder? Neurofibromatosis
Autosomal Dominant
What type of disorder? Amelogenesis Imperfecta
Autosomal Dominant