Common Disease

?
Trait
A character that is not necessarily related to illness (e.g. eye colour) Also used to describe a group of symptoms of a disease/disorder
1 of 48
Disease
An illness - specific symptoms affecting body functions/structures
2 of 48
Disorder
A disruption in function/structure that can lead to a disease e.g arrhythmia can lead to cardiovascular disease
3 of 48
Condition
An abnormal state of health that interferes with normal/regular feelings of wellbeing e.g. a lung condition can be pneumonia or lung cancer
4 of 48
Syndrome
A collection of signs/symptoms associated with a specific disease/disorder - usually affecting multiple organs
5 of 48
Complex Disease
A disease/disorder/trait where 1+ alleles (genetic variations/mutations) acting alone or in concert (together) increase or reduce the risk of developing a trait
6 of 48
Chromosomal
Numerical or structural disorder. Affects <1% of population. Multiple organs affected and can be inherited or de novo. e.g trisomy 21 Downs Syndrome.
7 of 48
Mendelian
Caused by mutations e.g. structural proteins, enzymes, receptors, transcription factors, metabolic pathways. Affects 1-4% of population. E.g Cystic Fibrosis
8 of 48
Multifactorial
Complex disease. Affects approximately 70%–95% of human disease depending on inclusion of cancers.
9 of 48
Inherited
Mutation passed from one or both parents (Mendelian inheritance) or de novo mutation in gametes (not Mendelian inheritance). Present in all cells and passed onto next generation.
10 of 48
Somatic
De novo mutation that can happen in early stages of development and present in most cells or later in life resulting in mosaicism. Not passed on to next generation.
11 of 48
Penetrance
Proportion of individuals carrying a particular genetic variant that also express an associated trait (phenotype)
12 of 48
Complete
Penetrance where 100% of individuals carrying disease causing trait display clinical symptoms
13 of 48
Reduced
Penetrance where less than 100% of individuals carrying disease causing trait display clinical symptom
14 of 48
Low
Penetrance where very unlikely to display clinical symptoms of a disease causing allele. Environment factors affect.
15 of 48
Monogenic
1 disease gene variant
16 of 48
Polygenic
Multiple disease gene variants
17 of 48
Aetiology
The cause(s) of disease/condition
18 of 48
Structural Variant
Examples: copy number variants, insertion, deletion, inversion, translocation
19 of 48
Homologous Recombination
Non-sister chromatids of homologous chromosomes exchange genetic materials
20 of 48
Independent
Alleles segregate separately in recombination in prophase I of meiosis. Generates no allele combinations
21 of 48
Linked
SNP's too close to be segregated, no recombination. Allele combinations remain identical = 100% LD
22 of 48
Haplotype
A group of alleles that are inherited together from a single parent.
23 of 48
Linkage Disequilibrium
Non-random association of alleles at two or more loci in a general population. Haplotypes do not occur at the expected frequencies.
24 of 48
Tag SNP
A SNP representative of a haplotype (region of LD) that can be used in genotype analysis
25 of 48
Dyslipidemia
An abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids) in the blood. In developed countries, most are hyperlipidemias (increased levels of lipids in blood)
26 of 48
Satiety
Feeling full
27 of 48
Congenital Leptin Deficiency
Obesity. A mutation in the LEP gene that affects the satiety centre and results in no leptin
28 of 48
Leptin Receptor Dficiency
Obesity. A mutation in the LEPR that affects the satiety centre and results in no response to leptin
29 of 48
POMC
Obesity. Mutations in this pathway affect the appetite centre.
30 of 48
Ghrelin
Hormone that is produced and released mainly by the stomach. 'Hunger hormone' - stimulates appetite, increases food intake and promotes fat storage.
31 of 48
Adrenocorticotropic hormone
ACTH - stimulates cortisol release by adrenal glands.
32 of 48
Melanocyte Stimulating Hormone
MSH - α and β, role in weight regulation, energy balance maintenance and skin pigmentation.
33 of 48
MC4R MC3R
Activated by α and β MSH.
34 of 48
Agouti-related protein
AGRP
35 of 48
Neuropeptide Y
NPY
36 of 48
99.9
Percentage sequence identity of unrelated humans
37 of 48
Copy Number Variant
CNV
38 of 48
Short Tandem Repeat
STR, also known as microsatellites
39 of 48
Genotype
Combination of alleles an individual has at a particular locus
40 of 48
Phenotype
Characteristic or trait a person has resulting from their genotype
41 of 48
Sclerotic
Rigid/ unresponsive, losing ability to adapt
42 of 48
Rheumatiod
Autoimmune arthritis
43 of 48
Mortality
Death
44 of 48
Morbidity
Condition of being diseased
45 of 48
Ketoacidosis
Uncontrolled production of ketones. Causes metabolic acidosis
46 of 48
Hb1AC
Measure of average blood glucose (sugar) levels for the last two to three months. Used to assess Diabetes.
47 of 48
Hypoglyceamia
Very low level of blood sugar
48 of 48

Other cards in this set

Card 2

Front

An illness - specific symptoms affecting body functions/structures

Back

Disease

Card 3

Front

A disruption in function/structure that can lead to a disease e.g arrhythmia can lead to cardiovascular disease

Back

Preview of the back of card 3

Card 4

Front

An abnormal state of health that interferes with normal/regular feelings of wellbeing e.g. a lung condition can be pneumonia or lung cancer

Back

Preview of the back of card 4

Card 5

Front

A collection of signs/symptoms associated with a specific disease/disorder - usually affecting multiple organs

Back

Preview of the back of card 5
View more cards

Comments

No comments have yet been made

Similar All resources:

See all All resources »See all Common Disease resources »