Mendellian Inheritance Flashcards
Name 1 disease thats a result of GOF mutations
just…cancer (oncogenes)
Name 1 disease that is a result of protein alteration
sickle cell anemia (beta globin)
Which disease is a good example of people having multiple gene abnormalities and still getting the same phenotype?
CF
Give an example of a disease where the same genotype can have different phenotypes
PKU where the PAH enzyne doesnt work to break down phenylalanine. You can also have a mutation in THB that causes PKU because it is a necessary cofactor
Postaxial Polydactyly is what type of genetic disease?
autosomal dominant
tyrosinase negative albinism is an example of what kind of genetic disease?
autosomal recessive (though it is more prevalent in certain populations that are isolated)
What is an example of an X linked recessive disease?
DMD
What type of disorder is Hypophosphatemia?
X linked dominant which is very rare
What are the characteristics of Hypophosphatemia?
low levels of phosphate reabsorption in kidneys leading to low levels in the blood
Ca++ deficient because cant absorb it from gut leading to bone softening and rickets
Abnormal metabolism of Vitamin D
What type of inheritance does Hemophilia A have?
X linked recessive
Name an example of a disease known to have reduced penetrance?
Retinoblastoma which is autosomal dominant- has 90% penetrance
What is an example of a disease with variable expressivity?
neurofibromatosis- cafe au lait spots. Difference has to do with the specific gentoype
Name an example of locus heterogerniety.
Osteogenesis Imperfecta which is the result of a mutation of collagen gene on either Ch 7 or CH 17
Name 1 diseases that is a result of LOF mutations
DMD loss of dystrophin
Locus heterogeneity
mutations on different sites causing the same disease
