MI: Unit 2 Final Review

These flashcards cover essential vocabulary and concepts related to genetics and genetic counseling, based on the provided lecture notes.

Genetic Counselor

A healthcare professional trained in genetics who helps individuals and families understand genetic conditions, testing results, and inherited risks.

Job of a Genetic Counselor

They collect family histories, assess genetic risk, explain test results, discuss options, and provide emotional support.

Human Genome Project

An international research project that mapped all human genes and sequenced human DNA.

Importance of the Human Genome Project

It allows scientists to identify disease-causing genes, improve treatments, and advance personalized medicine.

Completion Year of the Human Genome Project

2003.

Percentage of DNA that differs between humans

About 0.1%.

What does DNA code for?

Proteins such as enzymes, hormones, antibodies, and structural proteins.

Genetic Disease

A disorder caused by changes or mutations in DNA.

Genetic Testing

Testing DNA to identify mutations, inherited disorders, or disease risk.

Genetic Testing Process

Collecting DNA through blood, saliva, or cheek cells and analyzing it in a lab.

Causes of Genetic Abnormalities

Mutations, chromosomal errors, inheritance from parents, or environmental factors.

HIPAA

Health Insurance Portability and Accountability Act.

Enactment Year of HIPAA

1996.

Regulations of HIPAA

The privacy and security of medical and genetic information.

Protected Health Information (PHI)

Any information that identifies a person and relates to their health or medical care.

Information Protected under HIPAA

Medical records, genetic test results, diagnoses, and insurance information.

Gene

A segment of DNA that contains instructions for making a protein.

Function of a Gene

To code for proteins that determine traits and cell function.

PCR

Polymerase Chain Reaction, a technique used to make many copies of DNA.

Three Steps of PCR

Denaturation, annealing, and extension.

Types of Genetic Disorders

Autosomal dominant, autosomal recessive, sex-linked, and chromosomal.

Autosomal Dominant Disorder

A disorder where only one copy of the mutated gene is needed.

Examples of Autosomal Dominant Disorders

Huntington’s disease, Marfan syndrome.

Autosomal Recessive Disorder

A disorder that requires two copies of the mutated gene.

Examples of Autosomal Recessive Disorders

Cystic fibrosis, sickle cell disease.

Sex-Linked Disorder

A disorder linked to genes on the X chromosome.

Examples of Sex-Linked Disorders

Hemophilia, color blindness.

Genotype

An individual’s genetic makeup.

Phenotype

The physical expression of genes.

Number of Chromosomes in Humans

46 total chromosomes.

Number of Autosomes in Humans

44 autosomes.

Number of Sex Chromosomes in Humans

2 sex chromosomes.

Karyotype

A picture of chromosomes arranged in pairs.

Gel Electrophoresis

A lab technique that separates DNA by size using an electric current.

Charge of DNA

Negative charge.

Restriction Enzymes

Proteins that cut DNA at specific sequences.

Uses of Restriction Enzymes

In genetic engineering, cloning, and DNA analysis.

Gene Therapy

A treatment that replaces, fixes, or adds genes to treat disease.

Vectors in Gene Therapy

Carriers used to deliver healthy genes into cells.

Examples of Vectors

Viruses and plasmids.

CRISPR-Cas9

A gene-editing system that can precisely cut DNA.

How CRISPR targets genes

Using guide RNA to match and locate specific DNA sequences.

Role of Cas9

Cas9 cuts the DNA at the targeted location.

Diseases treated with CRISPR

Sickle cell disease, cystic fibrosis, some cancers.

IVF

In vitro fertilization, where eggs are fertilized outside the body.

Preimplantation Genetic Testing (PGT)

Testing embryos for genetic conditions before implantation.

Types of PGT

PGT-A, PGT-M, and PGT-SR.