Genetics Final

What is the main purpose of genetic testing?

Diagnose disorders, identify carriers, assess risk, and guide treatment

What is PCR used for?

Amplifying small amount of DNA for analysis

What is a key limitation of PCR?

Requires prior knowledge of DNA sequence for primer design

What does next-generation sequencing (NGS) allow?

Rapid, large-scale DNA sequencing at lower cost

What is chromosome painting used for?

Detecting chromosomal deletions and translocations

What major shift has occurred in prenatal testing?

from invasive → non-invasive methods

What is NIPT?

Non-invasive prenatal testing used cell-free fetal DNA

What conditions can NIPT detect?

Chromosomal abnormalities (e.d., trisomies)

What is a key advantage of modern prenatal testing?

Earlier detection with less risk to fetus

What is factor V leiden?

Genetic mutation causing increased blood clotting

Inheritance pattern of Factor V Leiden?

autosomal dominant

Why does Factor V Leiden increase clot risk?

Factor V is resistant to inactivation

Major complications of Factor V leiden?

DVT and pulmonary embolism

What causes MSUD?

Defect in metabolism of branched-chain amino acids

Which amino acids are affected in MSUD?

Leucine, isoleucine, valine

Classic symptom of MSUD?

Sweet-smelling urine

How is MSUD diagnosed?

Newborn screening and amino acid levels

Treatment for MSUD?

Dietary restriction of branched/chain amino acids

What are the two fundamental genetic properties of cancer?

Uncontrolled growth and genomic instability

What are oncogenes?

Mutated genes that promote excessive cell growth

What are tumor suppressor genes?

Genes that normally inhibit cell growth or induce apoptosis

What type of mutation activates oncogenes?

Gain-of-function

What type of mutation affects tumor suppressor genes?

Loss-of-function

What is p53 important?

Regulates DNA repair and apoptosis

What are the three interacting factors in cancer development?

Environmental exposure, immune health, genetic predisposition

Give examples of environmental carcinogens

Smoking, radiation, chemicals

What is cancer progression?

Increasing malignancy and aggressiveness over time

What are multifactorial disorders?

Diseases caused by genetic + environmental factors

Examples of multifactorial disorders?

Diabetes, HTN, heart disease

What is the threshold of liability model?

Disease occurs when risk exceeds a certain threshold

How is recurrence risk estimated?

Based on family history and degree of relatedness

Key feature of multifactorial inheritance?

Does not follow Mendelian patterns

What do twin studies assess?

Genetic vs environmental influence

What do adoption studies help determine?

Environmental vs genetic contributions

What does Hardy-Weinberg equilibrium describe?

Stable allele frequencies in a population

Hardy-Weinberg equation?

p² + 2pq + q² = 1

What does p represent?

Frequency of recessive allele

What disrupts hardy-Weinberg equilibrium?

Mutation, selection, drift, migration