2.1 and 2.2 MI

Single Gene Disorders

Mutations in the DNA sequence of one gene.

Multifactorial Disorders

Result from environmental factors combined with multiple mutated genes.

Chromosomal Disorders

Caused by missing or extra copies of genes, or breaks in chromosomes.

Mitochondrial Disorders

Caused by mutations in mitochondrial DNA, passed from mother to child.

PCR (Polymerase Chain Reaction)

A method to make millions of copies of a specific DNA segment.

Taq Polymerase

A thermostable enzyme used in PCR to extend DNA strands.

Anneal

The process of primers attaching to their complementary DNA sequences during PCR.

Amniocentesis

A procedure that involves extracting amniotic fluid for genetic testing.

Chorionic Villus Sampling (CVS)

A test where chorionic villus cells are extracted from the placenta for genetic testing.

In Vitro Fertilization (IVF)

A method of fertilization where sperm and eggs are combined outside the body.

Preimplantation Genetic Diagnosis (PGD)

A procedure that analyzes embryos for genetic conditions before implantation.

Gene Therapy

Techniques that aim to cure genetic diseases by replacing faulty genes.

CRISPR-Cas9

A technology that allows for targeted gene editing by cutting DNA.

Restriction Enzyme

An enzyme that cuts DNA at specific sequences for analysis or manipulation.

Gel Electrophoresis

A technique used to separate DNA fragments based on molecular weight.

Genetic Counselor

A professional who provides information and support regarding genetic conditions.

Phenotype

The observable characteristics or traits of an organism.

Karyotype

The number and appearance of chromosomes in the nucleus of a cell.

Sperm Sorting

A procedure that separates sperm based on their sex chromosomes to choose the baby's gender.

Vector

A vehicle used to transfer genetic material into cells.

Thermal Cycler

A machine used to amplify DNA by controlling the temperature during PCR.

PCR Primers

Short sequences of nucleotides that provide a starting point for DNA synthesis.

dNTPs (Deoxyribonucleotide Triphosphates)

The building blocks of DNA, used in the synthesis process during PCR.