Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pharmacology Equations > Genetics > Flashcards

Genetics Flashcards

1
Q

Genetics

A

The study of heredity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Genetic disease

A

a disease caused by a mutation in the genetic material

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Congenital disease

A

A disease present at birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Epigenetics

A

the study of changes in gene function that occur without a change in the DNA of this gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Examples of Codominance

A

MHCs and ABO blood group

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Meiosis I

A

Replication and separation of chromosomes to make 2 cells that are diploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Meiosis II

A

Separation of sister chromatids and cell division leading to haploid gametes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Homologous recombination

A

Sister chromasomes lined up on the metaphase plate have a crossing over of chromatids which resolves switching some genetic material from one to the other

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Metacentric Chromosome

A

P and Q arm are same length

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Submetacentric

A

P arm is shorter than Q arm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Acrocentric

A

P arm is almost completely nonexistent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Diploid human genome

A

46, XX or 46 XY
Chromosomes 1-22 Autosomes
Arranged in Karyotype Largest to smallest

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Karyotype Nomenclature

A

Total number of Chromosomes
Sex Chromosomes
Any Chromosomal Abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Chromosomal Disorders

A

Aneuploidy: loss or gain of a chromosome
Polyploidy: the presence of one or more additional sets of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How does aneuploidy occur

A

Non-disjunction
Mostly occurs during oogenesis in females
More likely at later age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Trisomy 21

A 
Down Syndrome
Growth retardation
Mental retardation
Early onset alzheimers
40% risk congenital heart disease
15-20 fold risk of Leukemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Trisomy 13

A 
Patau Syndrome
Severe facial dismorphism
Cardiac malformations
50% die within first week of life
Rest die by 6 months
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Trisomy 18

A

Edwards Syndrome
Characteristic finger folding
Heart abnormalities
Survival beyond 1 year very unusual

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

45, X

A 
Turner Syndrome
Intrauterine Edema
Neck Webbing
Short Stature (SHOX)
Infertility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

47, XXY

A 
Klinefelter Syndrome
Tall Stature
Gynaecomastia
Infertility
Mild learning deficits
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

47, XXX

A

Triple X
No physical abnormalities
Normal fertility
Mild learning difficulties

22
Q

47, XYY

A 
XYY
Tall Stature
Normal fertility
Mild learning difficulties
Some behavioral issues
23
Q

Balanced vs. Unbalanced Chromosome Rearrangement

A

Balanced: No loss or gain of essential chromosome material
Unbalanced: Loss or gain of essential chromosome material

24
Q

Translocations

A

Reciprocal: balanced unless breaking point is through a gene
Robertsonian: Accentric chromosomes, balanced because P arm has little gene info

25
Q

Inversions

A

Pericentric: include the centromere
Paracentric: Dont include centromere

26
Q

Isochromosomes

A

Centromere splits so P arms join together and Q arms join together

27
Q

Williams Syndrome

A 
Caused by microdeletions
Distinct facial appearance
Cardiovascular abnormalities
Mental retardation
Distinct cognitive profile
28
Q

What are the consequences of chromosomal structural abnormalities

A

Very little effect on individual

Can lead to mitotic spindles abnormalities leading to increase in partial trisomy or monosomy

29
Q

Haploinsufficiency

A

Mutation in a gene leads to absence of half a signal that requires the full stimulation to work
(Familial Hypercholesteremia)

30
Q

Dominant Negative Effect

A 
Mutant Protein interferes with function of a normal protein
Osteogenesis imperfecta
Types 1 (1/2 normal amount)
Type II (mutation in protein leads to 1/4 normal amount
31
Q

Gain of function

A

New property of a protein
Achondroplasia: Mutation of FGFR3 results in overactive receptor
Huntington Disease: Mutant protein is cytotoxic

32
Q

Allelic Heterogeneity

A

Different alleles can effect the same function. Presence of different nonfunctional alleles can cause problems that look like a double mutation
RET Gene

33
Q

Locus Heterogeneity

A

Mutations on different genes can have the same effect

34
Q

New Mutations

A

Spontaneous mutation rate (Extremely rare)

35
Q

Incomplete Penetrance

A

Some conditions do not manifest even in people who are dominant for the mutation

36
Q

Delayed onset

A

Diseases that manifest later in life may be passed on to offspring.
Someone can die before manifesting the disease

37
Q

Gonadal Mosaicism

A

People can have some gametes with a mutation and some that don’t carry it

38
Q

Pleiotropy

A

Single gene with diverse effects

All the conditions caused by Marfan Syndrome related to fibrillin gene mutation and weak connective tissue

39
Q

Variable Expressivity

A

Some people express more or less severe symptoms of the same disease

40
Q

Why are there differences in penetrance and expressivity

A

Modifier Genes
Environmental Factors
Complex genetic interactions

41
Q

What can happen to histones

A

Acetylation: More gene expression HAT acetylates N termini, HDAC removes it
Methylation: Less expression, Lysine residues of carboxyl termini
Phosphorylation

42
Q

Rett Syndrome

A

Neurological disorder in girls

Mutations of MECP2 protein lead to altered expression of brain function genes

43
Q

X inactivation

A

Equalizes the contribution of X chromosome in males and females
Random X is inactivated

44
Q

Mechanism of X inactivation

A

XIST RNA codes for DNA methylation, alteration of chromosome structure, and barr body formation
XIC is Xq13.2

45
Q

Anticipation

A

Increased severity of disease in successive generations caused the continued expansion of repeats
Mechanism of expansion thought to be slipped mispairing

46
Q

CAG repeats

A

Huntington’s disease

Gain of function mutation leads to toxic protein

47
Q

CTG repeats

A

Myotonic Dystrophy

Repeats cause DNA to hairpin resulting in changes to RNA splicing

48
Q

GAA repeats

A

Friedrich Ataxia

49
Q

CGG repeats on FMR1 genes

A 
Fragile X syndrome
Mental retardation
Distinct facial morphology
X linked recessive
Break at Xq27.3
50
Q

Genomic Imprinting

A 
Prader Willi (Paternal imprinting on chromosome 15, hypotonia, hypogonadism, obesity)
Angelman Syndrome (Maternal imprinting, Seizures, severe mental retardation, unprovoked smiling, lack of speech)

Pharmacology Equations (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions