2.1 Vocab

Genetic disorder

A health condition casued by a change in an individual’s DNA, encompassing mutations in genes or chromosomes, leading to various health problems

Single gene genetic disorder

A disease caused by a mutation or alteration in a single gene, leading to a change int he protein it codes for, which can disrupt normal bodily functions

Multifactoral genetic disorder

a condition caused by the interaction of multiple genes (polygenic) and environmental factors, rather than a single gene mutation, making them complete and difficult to study and treat

Chromosomal genetic disorder

A condition caused by abnormalities in the number or structure of chromosomes, the structures that carry genes, leading to various health issues

Mitochondrial genetic disorder

group of inheritted conditions that disrupt the body’s ability to produce energy, becuase of problems with the mitochrondria

screening test

Diagnostic test

Chromosomal testing

Carrier screening

Preimplantation Genetic diagnosis

In vitro fertilization

Maternal serum screening

Ultrasound (2D, 3D, 4D)

Nuchal translucency (NT) ultrasound

Anatomy ultrasound

Noninvasive prenatal screening

Cell-free fetal DNA analysis

Chorionic Villus sampling (CVS)

Amniocentesis

Karyotype

Folic acid

Newborn screening / panel

Polymerase chain reaction (PCR)

Thermal cycler

Primers

Taq polymerase

Deoxynucleotides (dNT’s)

Buffer

Denaturation

annealing

Extention

Single nucleotide polymorphism (SNP)

Supernatant

Restriction enzyme

Gel electrophoresis

Genotype

Phenotype

Genetic counciler