Question: So-called “splice Site Mutations” Are Rather Common Among Recessive Alleles Associated With Heritable Disease In Humans. A) Please Define What Is Meant By A “splice Site Mutation”? B) Why Might They Be Seen More Frequently Than Missense Or Nonsense Mutations In Medical Genetic Diagnosis?
Question: So-called “splice Site Mutations” Are Rather Common Among Recessive Alleles Associated With Heritable Disease In Humans. A) Please Define What Is Meant By A “splice Site Mutation”? B) Why Might They Be Seen More Frequently Than Missense Or Nonsense Mutations In Medical Genetic Diagnosis?
So-called “splice site mutations” are rather common amongrecessive alleles associated with heritable disease in humans.
a) Please define what is meant by a “splice site mutation”?
b) Why might they be seen more frequently than missense ornonsense mutations in medical genetic diagnosis?