Good Genes Gone bad (KEY TERMS)

phenotypes

what you see (clinical features) - what the gene expresses

dysplasia

abnormal cell growth or development in an organ or tissue

hyperplasia

increased cell production in a normal tissue/ organ. MAY/MAY NOT be pathogenic (bigger organ compare with hypertrophy)

neoplasia

abnormal increase in cell numbers- can lead to cancer

metaplasia

when one mature cell type is replaced by another mature cell type

aplasia

when organ/part of organ is MISSING due to lack of growth

hypoplasia

when there is a congenital deficiency in the number of cells (can be reduced proliferation)

congenital

present from birth

desmoplasia

overgrowth of fibrous connective tissue- that is secondary to an insult ( E.G. adhesions from abdominal surgery, connective tissue is exactly that, E.g. ligaments

anaplasia

loss of structural differentiation- within cell/ cell groups; cells revert to a more primitive state ( often times occurs in cancer)

hypertrophy

process by which cells enlarge, causing increase in size of organ/tissue. E.G. is when muscles get larger due to weight-lifting.

intestinal metaplasia

a precancerous condition where the normal lining of the stomach or esophagus is replaced by cells resembling the small intestine

clinical features

used by clinicians and biomedical scientists to describe the symptoms/clinical presentations of the patient.

Patient/case/affected

refers to the individual affected by a disease/genetic disorder.

Consanguineous

relating to or denoting people descended from the same ancestor (e.g., via marriage).

Dysmorphic

structure(s) that are malformed or different from normal.

P arm of human chromosome

small arm of chromosome

Q arm of chromosome

longer arm of chromosome

Variable expressitivity

how severe the clinical features are

Atoms

the basic building blocks of chemistry, made up of subatom particles (proton, electron, neutron)

de novo mutation

"new" mutation "not present" in

parents

Tonic

muscles suddenly tense

clonic

muscles relax (chill)

variants

mutations ( another word)

replication

the act of copying or replacing something

transcription

conversation of spoken/recorded speech into text

translation

process of translating words/texts from one "language" to another

autoimmune disease

where bodys immune system attacks healthy cells, tissues, organs, etc.

indel

deletion or insertion of codons due to (mutation)

connective tissue

basic tissue type in body that supports, protects, connects other tissues and organs; includes fibrous connective tissue made up of collagen fibers (!) and fibroblasts which are found in ligaments, tendons, skin; cartilage, which is good at withstanding pressure.

Dermis/dermal layer

middle layer of skin (contains blood vessels, glands, hair follicles, lymphatics, nerves, collagen, elastic fibers, fibroblasts); below epidermis (protective outer layer) and hypodermis (innermost layer that makes up the subcutaneous tissue and includes fibroblasts (makes collagen), adipose (fat) cells, macrophages (eater cells), blood vessels, nerves).

extracellular matrix

Network of macromolecules (including proteins) that surrounds cells and provides structural support to tissues and organs. Oftentimes on one side of a layer of cells.

Heterozygous

different alleles (Aa)

Homozygous

2 alleles are the same (AA)

Allele

one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.

"Common Disease - Common Variant"

low effect size

• "Rare Disease - Rare Variant"

large effect size

polymorphism

variation of a DNA sequence in a population.

Hemoglobinopathies

inherited disorders of hemoglobin structure and function