Lec 9 - DNA Based Tests

Signalment? (B.A.S.U.)

Breed, Age, Sex, Use

Polycystic Kidney Disease

Persian Cats

Hyperuricosuria

Purebred Dalmatians

Nutrigenomics

preventive nutrients for predisposed diseases

Ways to do DNA testing

It is laboratory dependent: cheek swab, frozen semen, EDTA blood, FDA cards

PCR testing determines specific ________ of animals

genotype

PCR testing is very specific, and is done by the _____ and ______

breed and mutation

What are the 2 categories of genetic diseases

shared across breeds and breed specific

Most common ‘shared across breed’ genetic disease?

IVDD

______ is shared across domestic species

coat colors

Phenocopy

Can have mutations in different genes that cause the same phenotype

What are the 2 types of genetic tests

mutation test and marker test

What does the mutation test do

checks for presence of mutated copy of gene (this test is IDEAL)

What does the marker test do

tests for a marker that is found to be inherited along w/ disease phenotype (greater error rate)

For autosomal recessive mutations, should carriers, non carriers, or affected get DNA tested?

carriers, since they are phenotypically normal

When should autosomal dominant mutations be DNA tested? (hint: 3 reasons)

late age onset, incomplete permeance, or 2 v.s. 1 copy of mutant allele

Define odds ratio (OR)

how much more likely a diseased animal is to carry a particular allele

Define relative risk

how much more likely the animal is to get the disease if they carry the risk allele

Allele frequency

how common the disease is

What kind of allele frequency of certain diseases in certain breeds should prompt owners to do a genetic test?

High allele frequency should prompt O to do a genetic test

Two ways in managing inherited diseases

large panel tests and individual/breed specific test