Millonig - Complex Diseases

Question 1

genetic linkage

Answer 1

If you know the location of a certain gene you can link a probe of some sort to it and see if the person is affected.

Question 2

Hirschprung’s Disease

Answer 2

neural crest defects for cells that go on to form the enteric nervous system of the intestines. Mutation in a tyrosine kinase receptor. Doesn’t follow mendelian inheritance. More males than females. Really high relative risk in siblings.
- example of complex inheritance because you need a mutation at multiple places in order to get the disease.

Question 3

multi-factorial inheritance

Answer 3

inheritance of phenotypic trait that is attributable to two or more genes, or interaction with the environment, or both.

Question 4

polygenic

Answer 4

a character determined by a number of genetic loci.

Question 5

GWAS - Genome Wide Association Analysis

Answer 5

Basically recruit people with the disease. Sequence their genome and look for SNPs so that you can see which SNPs are occurring in this diseased population.

Question 6

Heritability equation

Answer 6

(Variance in dizygotic twins)-(Variance in monozygotic twins) / (Variance in dizygotic twins
- If you get a number closer to 0 then it is more due to environment. If it more close to 1 then it is closer to genetic.

Question 7

Functional polymorphism

Answer 7

When a polymorphism affects the levels or activity of the gene BUT IS STILL IN NORMAL RANGE

Question 8

Relative risk

Answer 8

prevalence of the disease in the relatives of an affected person / prevalence of the disease in the population

Question 9

semi-dominant

Answer 9

when having one allele will give you the phenotype but having two alleles will give you a worse phenotype

Question 10

commons vs. rare varints

Answer 10

• within one disease there can be the more common variants that cause the disease and a very rare variant that causes the disease.
  common variants are common and thus causes less risk to the individual but greater risk to the population.
  rare variants are not common and are thus termed mutations. They cause much individual harm but little harm to the population.

Question 11

De novo mutation

Answer 11

when the actual sperm or egg of the parent is mutated, which causes mutation for the first time in the family.