Exam II Review Flashcards
Define mutation
permanent change in the DNA of an organism
Define genomic mutation
Karyotypic change resulting in aneuploidy
Define chromosomal mutation
change in size, shape and structure of chromosomes
Define gene mutation
seen at the gene level only
Define point mutation
within coding sequence
Define deletion mutation
Deletion of NT’s
Define insertion mutation
Addition of NT’s
Define missense mutation
Point mutation resulting in a different AA
Sickle Cell
Define nonsense mutation
Example
early stop codon
Beta thalassemia
Define tri-nucleotide repeat
Repeat of 3 amino acid sequence
Define autosomal dominant
3 general characteristics
Only need one allele to have phenotype Reduced penetrance Variable expressivity Males and females Spontaneous mutations can occur Onset is delayed Proteins and metabolic control points
Define autosomal recessive
2 general characteristics
Need two alleles to have disorder
Early onset
Enzymes
Usually complete penetrance
Define x-linked recessive
Need to have one mutant X allele in males and two in females.
Define x-linked dominant
One example?
Only need one X allele to have disorder
Vitamin D resistant rickets
Define codominant
One example?
two different gene alleles are fully expressed together
Marfan's syndrome Type of inheritance Incidence Chromosome involved Protein involved Three charcteristics of syndrome (MARFANS)
Autosomal dominant
Ch 15
Fibrillin
Mitral valve prolapse Aortic aneurysm/Aortic valve incompetence Retinal detachment Fibrillin/Ch15 Arachnodactyly Subluxulated lens
Ehlers danlos Type of inheritance: Protein involved Five characteristics of syndrome "Fellers Damn Loose"
All 3
Collagen
Stretchable skin
Hypermobile joints
Really easily injured skin
Increased lines on palma
Familial hypercholesterolemia Type of inheritance Incidence Proteins/components involved Two characteristics of syndrome
Autosomal Dominant
1 in 500 (MOST COMMON)
Defective LDL receptor
High blood cholesterol levels
Tendinous xanthomas
Tay Sachs Type of inheritance Incidence or population at risk Protein/components involved Two characteristics of syndrome
Autosomal Recessive
Ashkenazi Jews
Hexosaminidase A –> Gangliosides
Cherry Red Spot on macula
Blindness
NO hepatosplenomegaly
Gaucher Type of inheritance Incidence or population at risk Protein/components involved What types exist?
Autosomal Recessive
Eastern European Jews
Glucocerebrosidase
Type I(Phagocytes), Type II (Infantile), Type III (Intermediate)
Niemann-Pick
Type of inheritance
Protein/components involved
What types exist?
Autosomal recessive
Eastern European Jews (Type A&B)
NPC-1 gene –> Sphingomyelin
A (infantile), B, C (most common)
Mucopolysaccharidoses?
Most common type of inheritance
What form is X-linked recessive
Two general characteristics
All AR Except Hunter Syndrome Coarse facial features Clouding of corneas joint stiffness mental retardation
Glycogenoses (Viagara Pills Cause A Major Hard On)
What is hepatic type?
Muscle type?
Lysosomal type?
Hepatic: Type I – Von Gierke’s
Muscle: Type V – McArdle’s
Lysosomal: Type II – Pompe’s
NF-1 Incidence Chromosome involved Protein involved and normal action Three characteristics
1/3000
NF-1 gene on Chromosome 17q11
Neurofibromin - Tumor supressor
Neurofibromas
Cafe au lait macules
Lisch nodules
