Slide deck 3: Pedigree Analysis

-determined by single major gene

-specific patterns of inheritance

-autosomal, x-linked, mitochondrial

-the tendency of certain disease phenotypes to appear at earlier ages and with increased severity in successive generations

-term used if individuals are related by blood prior to marriage or mating

-contain DNA that codes for the same genes

-a pair will have the genes in the same locations but different "versions"

Which allele inheritance will always result in 50% of offspring inheriting the gene? (GENDER DOES NOT MATTER)

What are clinical implications of Huntington's disease?

Which gene is responsible for Huntington's disease? What mutation occurs?

Which amino acid is affected by Huntington's Disease?

a. aspartic acid

b. lycine

c. glutamine

d. serine

What is the relationship between CAG repeats and age of onset in Huntington's disease?

a. as repeats increase, age of onset decreases

b. as age increases, number of repeats increases

c. there is no relationship

d. as number of repeats increase, age of onset occurs earlier

-vesicular monoamine transporter 2 (VMAT2) inhibitor

What is the MOA for tetrabenazine?

Which enzyme is responsible for metabolizing Tetrabenazine?

Patients who require doses of XENAZINE greater than 50 mg per day should be first tested and genotyped to determine if they are:

a. extensive metabolizers

b. poor metabolizers

c. intermediate metabolizers

d. metabolizing has no effect on drug efficacy

-most common and serious form of inherited high blood cholesterol.

-condition results in genetically determined inadequate clearance of LDL cholesterol in the liver

Which form of Familial Hypercholesterolemia is more severe?

a. Heterozygous Familial Hypercholesterolemia (HeFH)

b. Homozygous Familial Hypercholesterolemia (HoFH)

c. degree of severity is the same

-an siRNA indicated for the treatment of HeFH- with a statin

What does the mutation of FH cause LDL to do?

-first-in-class monoclonal antibody inhibitor of the protein ANGPTL3

-results in reduction of all 3 major lipid traits

EVKEEZA is indicated for the treatment of ___________

What is the age range for patients treated with EVKEEZA?

If both parents are recessive for a trait, what are the chances their offspring will inherit the disease?

Recessive traits are characteristically found in _______, not ______ of affected. Is a result of ____________

Autosomal recessive disorders are most found in

a) ethnic groups

b) close geographic groups

c) populations in religious isolation

d) populations with increased consanguinity

e) all of the above

What is the phenotypic result of most Autosomal Recessive (AR) Disorders?

-group of disorders including sickle cell anemia, sickle-hemoglobin c disease, and beta-thalassemia

Which defective gene is responsible for SCD?

What is/kind of mutation is responsible for SCD?

What is the phenotypic cause of SCD?

-second generation drug intended for use in patients (12 years or older) with SCD

-patients take 1500 mg tablets every day (q.d)

MOA for OXYBRYTA?

What is unique about the structure of OXYBRYTA?

a) contains Boron; forms ionic bond with HbS

b) contains aldehyde functional group; forms covalent bond with Hbs

c) contains epoxide group; forms covalent bond with HbS

d) none of the above

This mode of inheritance results in a mode of transmission where the trait is never passed from father to son.

All daughters of an affected male and a normal female are affected. T or F?

Which mode of inheritance results in a mode of transmission where affected fathers & unaffected mothers produce unaffected sons and carrier daughters?

For an X-linked recessive trait, Heterozygous mothers and normal fathers have what chances of producing affected sons and carrier daughters?

In Fabry disease, the genetic mutation of _______ is responsible for the failure of lysosomal enzyme _______; causing an accumulation of _________ in various cell types.

-first in class chaperone therapy for Fabry disease in amendable mutations

-enzyme therapy

Migalastat MOA?

What is Fabry disease mode of inheritance?

a. autosomal dominant

b. autosomal recessive

c. x-linked dominant

d. x-linked recessive

What is SCD mode of inheritance?

a. autosomal dominant

b. autosomal recessive

c. x-linked dominant

d. x-linked recessive

What is the mode of inheritance for Familial hypercholesterolemia?

a. autosomal dominant

b. autosomal recessive

c. x-linked dominant

d. x-linked recessive

What diseases are autosomal dominant?

What diseases are autosomal recessive?

What diseases are x-linked recessive?