Genetic Disorders Flashcards
Categories of Genetic disorders
Single gene (Monogenic disease)
Chromosal
Complex multigenic disorders
Deleterious effects
Mutation within non coding sequence
more common; caused by interactions between multiple variant forms of genes and environmental factors
Complex multigenic disorders
Conservative missense mutation
cause no little change
Permanent change in DNA
Mutation
Reading frame remain intact
number base pairs involved is three or multiple of three
Single gene disorders:
Patterns of Inheritance
Autosomal DOminant
Autosomal recessive
X-linked
Mendelian traits
either dominant or recessive
THalassemias
hereditary anemia
All hemoglobin is abnormal
homozygous
Defective transport system for chloride and bicarbonate
Cystic fibrosis
Alterations involving single genes
biochemical and molecular basis of single gene medelian disorder
Enzyme proteins not affected; structural proteins affected
autosomal dominant
cherry red spot
Tay sachs disease
Familial hypercholesterolemia
autosomal domnant
Disorder of connective tissue
Marfan syndrome
Severe infantile form
Niemann-Pick disease Type A
one arm of chromosome is lost and remaining arm duplicated
Isochromosome
Trisonomy 21/Down syndrome
Most common chromosomal disorders
Sickle cell anemia is most commonly found in
African American
Loss portion of chromosome
Deletion
Royal disease
Hemophilia
christmas disease
Hemophilia B
Lorenzo oil made up:
Oleic acid
Euric acid
