Things that are examples of a lot

Question 1

SCA

Answer 1

• genetic disorder d/t mutation in single genes w lg effects that is NOT rare bc the pop maintains the selective forces for it
• nonconservative missense mutation
• partial (anemia)/full (trait) expressio in homo/hetero
• plieotropism
• other genes that modify the pheno: a-blobin effects how much Hb made in the 1st place
• ARD
• alteration in structure of nonenz protein type of mendelian disorder

Question 2

Thalassemais

Answer 2

• B-thalasemia: nonsense mutation
• general: mutation in noncoding seq
• alteration in structure of nonenz protein type of mendelian disorder