Week-8-OMK

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Pedigrees

Diagrams that show the genetic relationships within a family and can be used to analyze inheritance patterns.

Dynamic mutations

Mutations that involve the expansion of repetitive DNA sequences and can lead to anticipation

Co-dominance

A type of inheritance where both alleles of a gene are fully expressed in the phenotype.

Pseudoautosomal inheritance

Inheritance patterns of genes located on the pseudoautosomal regions of the X and Y chromosomes

Mitochondrial inheritance

Inheritance of genes located in the mitochondrial DNA

Pleiotropy

A phenomenon where a single gene mutation can cause multiple effects or symptoms in different parts of the body.

Variable expression

The range of phenotypic manifestations observed in individuals with the same genetic mutation.

Trinucleotide repeat disorders

Disorders caused by the expansion of trinucleotide repeat sequences in certain genes.

Epigenetics

The study of heritable changes in gene expression that do not involve changes to the DNA sequence.

Prader-Willi Syndrome

A genetic disorder characterized by a small deletion on chromosome 15q11.2-q13

Angelman Syndrome

A genetic disorder also caused by a deletion on chromosome 15q11.2-q13

De novo mutation

A genetic mutation that occurs for the first time in an individual and is not inherited from their parents.

Imprinting defect

A mechanism in Prader-Willi and Angelman syndromes where there is a disruption in the normal gene expression pattern based on parental origin.

UBE3A gene

A gene that provides instructions for making a protein called ubiquitin protein ligase

Anticipation

A phenomenon where the severity or age of onset of a genetic disorder increases in successive generations.

Genomic imprinting

An epigenetic phenomenon where certain genes are expressed differently depending on whether they are inherited from the mother or the father.

Multifactorial disorders

Disorders that are influenced by both genetic and environmental factors.

Qualitative traits

Traits that can be categorized into distinct categories

Quantitative traits

Traits that can be measured on a continuous scale

Penetrance

The proportion of individuals with a specific genotype who exhibit the associated phenotype.

Genetic heterogeneity

The presence of different genetic variations that can cause the same phenotype.

Proto-oncogene

Normal gene involved in cell cycle and proliferation.

Growth factors

Proteins that stimulate cell growth and division.

Transcription factors

Proteins that regulate gene expression by binding to DNA.

Gain-of-function

Mutation that leads to increased activity or function of a gene or protein.

Gene dosage

The number of copies of a gene present in a cell or organism.

Tumor suppressor genes

Genes involved in suppressing cell cycle and preventing uncontrolled cell growth.

Familial Cancer Syndrome

A hereditary condition that increases the risk of developing certain types of cancer.

RB1

Retinoblastoma gene

TP53 (p53)

A tumor suppressor gene associated with Li-Fraumeni syndrome and various cancers.

WT1

Wilms tumor gene

BRCA1 & BRCA2

Tumor suppressor geneS associated with familial breast and ovarian cancer.

Two-hit hypothesis

The idea that both copies of a tumor suppressor gene need to be mutated or inactivated for cancer to develop.

Retinoblastoma

A rare eye cancer that primarily affects children

Germline Cells

The cells that give rise to eggs or sperm and can pass on genetic mutations to offspring.

Somatic Mutations

Mutations that occur in non-germline cells and are not passed on to offspring.

Philadelphia chromosome

A genetic abnormality resulting from a translocation that is associated with chronic myelocytic leukemia (CML) and acute lymphoblastic leukemia (ALL).

p53

A tumor suppressor protein encoded by the TP53 gene

Environmental risk factors

Factors in the environment that can increase the risk of developing cancer

Multifactorial inheritance

The combined influence of genetic and environmental factors in the development of a trait or disorder.

Empirical risk

The probability of developing a trait or disorder based on observed data.

Threshold model

A model that suggests that a certain level of genetic and/or environmental factors must be exceeded for a trait or disorder to manifest.

Cleft palate

A congenital condition characterized by a split or opening in the roof of the mouth.

Pyloric stenosis

A condition in which the opening between the stomach and small intestine becomes narrowed

NTD

Neural tube defect

Hypertension

High blood pressure

Diabetes

A metabolic disorder characterized by high blood sugar levels

Proto-oncogene to oncogene

The transformation of a normal gene involved in cell cycle and proliferation (proto-oncogene) into a mutated gene that promotes uncontrolled cell growth (oncogene).

Cytoskeleton

A network of proteins that provides structural support

Intermediate filaments

A type of cytoskeletal protein that provides structural stability to cells and tissues.

Microtubules

Hollow tubes made of protein that help maintain cell shape

Motor proteins

Proteins that use ATP energy to move along microtubules and actin filaments

Desmosomes

Cell junctions that connect neighboring cells and provide mechanical strength to tissues.

Hemidesmosomes

Cell junctions that connect cells to the extracellular matrix and provide anchorage to tissues.

Vimentin

An intermediate filament protein found in mesenchymal cells and used as a histopathology tool.

Keratins

Intermediate filament proteins found in epithelial cells and used as histopathology tools.

Neurofilaments

Intermediate filament proteins found in neurons and used as histopathology tools.

GFAP

Glial fibrillary acidic protein

Desmoglein and desmocollin

Cadherin proteins that mediate cell-cell connections in desmosomes.

Integrin α6β4

A transmembrane protein that connects hemidesmosomes to the basal lamina.

Bullous pemphigoid

An autoimmune disorder characterized by antibodies against hemidesmosome proteins

Pemphigus vulgaris

An autoimmune disorder characterized by antibodies against desmosome proteins

Epidermolysis bullosa

A rare genetic disorder characterized by weakened intermediate filaments

Desminopathies

A group of muscle disorders characterized by mutations in the desmin gene

Progeria

a genetic disorder characterized by rapid aging in children

Nuclear lamins

proteins that provide structural support to the cell nucleus

Neurofilaments

proteins that may play a role in amyotrophic lateral sclerosis (ALS)

Microtubules

cylindrical structures that provide mechanical support

Kinesins

motor proteins that move cargo along microtubules towards the plus end

Dyneins

motor proteins that move cargo along microtubules towards the minus end

Tubulin

protein subunits that make up microtubules

Dynamic instability

the ability of microtubules to undergo rapid growth and shrinkage

MAPs (Microtubule-associated proteins)

proteins that regulate microtubule stability and function

Tau

a MAP that promotes microtubule assembly and stabilization in axons

Alzheimer's disease

a neurodegenerative disorder characterized by the accumulation of neurofibrillary tangles

Centriole

a structure involved in cell division and the formation of cilia and flagella

Cilia

hair-like structures that are involved in cell motility and sensory functions

Flagella

whip-like structures that are involved in cell motility

Vinblastine

a chemotherapy drug that interferes with microtubule dynamics and cell division

Taxol

a chemotherapy drug that stabilizes microtubules and interferes with cell division

Colchicine

a medication used to treat gout that inhibits microtubule polymerization

Motile cilia

cilia that exhibit active motility

Primary cilia

a single immotile cilium found on most cells

Ciliopathies

a group of disorders caused by defects in cilia structure or function

Axonal transport

the movement of cargo along microtubules in neurons

Neurotropic viruses

viruses that specifically target neurons for infection and replication

Herpes and rabies virus

examples of neurotropic viruses that rely on dynein for transport within neurons

GFAP

Glial fibrillary acidic protein

Actin

A protein that forms microfilaments and plays a role in cell structure and movement.

Microtubules

Hollow tubes made of protein that help maintain cell shape and serve as tracks for intracellular transport.

Myosin

A motor protein that interacts with actin to generate movement in cells.

Cell migration

The process by which cells move from one location to another.

Adherens junctions

Cell-cell junctions that are formed by the interaction of cadherin proteins and actin filaments.

Desmosome

A type of cell-cell junction that connects intermediate filaments of adjacent cells.

Hemidesmosome

A type of cell-matrix junction that connects intermediate filaments to the extracellular matrix.

Cytoskeleton

A network of protein filaments that provides structural support and facilitates cell movement.

Nucleation

The process of initiating the formation of a filament.

Polymerization

The process of assembling monomers into a polymer.

Severing

The process of cutting or breaking filaments.

Capping

The process of preventing further elongation or depolymerization of filaments.