Exam 1 Material Flashcards
(79 cards)
1
Q
What is a gene?
A
Unit of heredity
Association with trait
termed with allele
2
Q
What is a Genome?
A
Collection of genetic information
3
Q
How many complete sets are found an animals?
A
two complete set maternal and paternal
4
Q
What is replication
A
Copies DNA for cell division (5’-3’)
5
Q
What genes regulatory domains
A
Promoter and Enhancer
6
Q
Process of DNA to RNA
A
Transcribed (transcription)
7
Q
What is the process of translation?
A
RNA message into protein by ribosomes
8
Q
What is the end results of Transcription?
A
mRNA, tRNA, rRNA
9
Q
What is a genetic code?
A
3 letter code - sense or nonsense codon
10
Q
What is sense codon?
A
Degenerate
Synonymous codons
11
Q
Nonsense codon?
A
Code for Stop
12
Q
What is the start codon
A
AUG
13
Q
What are the secondary structure of protein
A
a-helix and b-pleated sheet
14
Q
molecule function of transcription
A
storage and transmission of genetic information and catalysis
15
Q
Where is transcription encoded
A
DNA
16
Q
Male and Female (mammal) sex chromosome
A
M = XY and F = XX
17
Q
Male and Female (bird) sex chromosome
A
M = ZZ and F = WZ
18
Q
Describe the structure of a chromosome
A
Two sister chromatid joined at center centromere
19
Q
Chromosome Nomenclature
A
first letter of the genus and first two letter of the species
ex: homo sapien HSA
20
Q
Term: Haploid/Diploid
A
Haploid: chromosome n in gamete = 1n
Diploid: chromosome n in zygote = 2n
21
Q
Define Gene
A
Basic unit of inheritance
22
Q
Define Allele
A
Form/version of a gene (a or A)
23
Q
Define Homo, Hetero, Hemizygous
A
Homo: aa or AA
Hetero: Aa
Hemi: A or a
24
Q
What are three mutations
A
Substitution, Insertion, Deletion
25
Explain Substiution
Synonymous
Missense
Nonsense (stop)
26
Insertion
AA addition
Frameshift
27
Deletion
AA loss
Frameshift
28
Explain hot spot for mutation
regions with particularly high rate of mutation
29
Explain lethal mutation
Severely impairs function resulting in death
30
Define Neutral mutation
no impact on form or function
31
What is polymorphism
neural mutation that reaches frequency of 1% in population
32
Genotype
Genetic constitution or alleles present Bb or BB
33
Phenotype
physical manifestation of genotype with environment - black (coat color)
34
What is incomplete penetrance
have gene but don't express phenotype
35
variable expressivity
disease or trait varies among affected individuals
36
What makes up a phenotype? (Vp = Va + Vd + Vi + Ve)
variance in phenotype, added genetic variance, variance in dominance deviation, variance in epistatic interactions, variance in environment
37
Define dominant
phenotype is seen in heterozygotes (Capital case)
38
Recessive
Phenotype only expressed in homozygotes (lower case)
39
Incomplete dominance
Blended phenotype
40
Co-dominance
Unique phenotype
41
Gain-of-Function
Novel protein product, over expression or inappropriate expression, dominant negative
42
DCM in Turkeys Information
Round Heart Disease leading to sudden death, appears in first weeks of life
43
What is the function of DCM in Turkeys
Deletion in intron 7 causes skipping of exon 8 in cardiac Troponin T gene
Changes protein conformation and binding affinity
Incorporation of mutant cTnT into myofibril negatively affect cardiac muscle contractility
44
Gene/Function in Doberman Pincher causing Narcolepsy
Gene - HCRTR2
Retrotransposon - SINE
Insertion site - Intron 3
45
Gene/Function in German Wirehair Pointer causing Hemophilia B
Gene - F9
RT - LINE
IS - Intron 5
46
Gene/Function in Labs causing Centronuclear myopathy
Gene - DTPLA
RT - SINE
IS - Exon 2
47
Gene/Function in "Several Breeds" causing Merle Coat Syndome
Gene - SILV
RT - SINE
IS - Exon 11
48
Gene/Function in Jack Russell causing Lamellar Icthyosis
Gene - TGM1
RT - LINE
IS - Intron 9
49
Loss of Function
Not enough protein (reduced or missing)
50
Law of Segregation
Individual posses two genes for particular trait, only one gene is transmitted to offspring.
Genes can be transmitted independently of each other
51
Are diseases inherited?
Most disease traits are rare in general population
52
What are some single gene inheritance patterns
Autosomal (non-sex chromosome)
- Dominant
- Recessive
X-linked
- Dominant
- Recessive
53
Term for absence of horns
Polled (PP or Pp)
54
What is Lamellar Icthyosis
Seen in Jack Russell Terriers - experience scaly patches, persist through adulthood & autosomal recessive disorder
A = normal, dominant
a = mutant, recessive
55
Punnett Square
see image
56
Explain Von Willebrand's Disease
Inherited bleeding disorder: most common bleeding disorder among dogs
Clotting fact (vWF) is missing or defective
57
What are the 3 classifications of vWD
Type I - Functions but low amounts
Type II - doesn't function properly
Type III - no vWF present
58
Inheritance of vWD
Autosomal recessive
Type I most common in dogs
59
Symptoms of vWD
prolonged or excessive bleeding
symptom range from mild to severe
60
When is vWD typically noted in dogs
SX, females in heat, injury, parturition, nail clipping
61
How to diagnose vWF
ELISA
genetic testing - more accurate
62
Treatment of vWD
precautions to preent injuries
sx required premed with DDAVP (desmopressin)
63
What species does chondrodyplasi punctata
peromyscus maniculatus (mouse)
64
what is the gene for chondrodyplasi punctata
gene - Ebp (emopamii binding protein)
molecular defect - X linked dominant inheritance
65
What is an interesting sex linked recessive trait in chickens
Dwarfism - appear normal at first but evident by 5 months, low body weight but normal fertility
66
How many genes in mitochondria
37 genes
67
mitochondrial inheritance
inheritance only through maternal lineage - no affected male can transmits the disease
68
Homoplasmy
pure population of normal mtDNA or pure population of mutant mtDNA
69
Heteroplasmy
mixed population of normal and mutant mtDNA
70
What is the phenotypic threshold effect
expression of the disease phenotypes in particular tissues
- accumulation of mutation in normal mtDNA
- increasing proportion of mutation mtDNA
- mutation rate in mtDNA is 10-fold higher than nuclear DNA mutation rate
71
Where does heteroplasty exist in mitochondrial phenotypes
spectrum of dx among family members
reduce penetrance
pleiotrophy
variable expressivity
72
What is canine spongiform
-leukoencephalomyelopathy-
changes valine to methionine
alters protein structure
leads to deficient of electron transfer and thus ATP production
73
What is liability of complex disorders
combined effect of factors, genetic and environmental that contribute to whether animal develops disorder or not
74
what is threshold complex disorder
certain level of liability above which all animals will develop the disorder and below which all animals will be normal
75
Give an example of a complex disorder
Hip dysplasia - seen in over 82 dogs, incidence highest in large breeds
76
multifacorial - complex disorder
disorders due to combination of genetic and environmental factors
77
What is GWAS
Genome wide association study
two cohorts - trait positive and negative
Genotype w/ markers of known position in the genome
- microsatellites
-SNPs
Finds markers associated w. dx
78
What is genetic disease in Bedlington Terriers
Copper Toxicosis
79
Common genetic dx in Portugues water dog
DCM (autosomal recessive)
