Biochem Week 3 Flashcards
1
Q
Where does meiosis produce and where does it occur
A
Haploid gametes in spermatozoa in males and ovum in females.
2
Q
Meiosis: Prophase 1
A
Crossover recombination
3
Q
Region where crossover occurs in prophase 1
A
Chiasma…Chromosomes associate like tetrodes
4
Q
Tetrodes align along the midline(equator of the cell)
A
Metaphase 1
5
Q
Random segregation of homologous chromosomes to opposite poles
A
Anaphase 1
6
Q
1 copy of chromosomes w/ each 2 sister chromatids
A
Telophase and cytokinesis
7
Q
Alignment of sister chromatids
A
metaphase ii
8
Q
Separation of sister chromatids x2
A
anaphase ii
9
Q
how many chromosomes are left for the haploid gametes
A
23
10
Q
How does genetic diversity of gametes occur
A
Cross over between homologous chromosomes during prophase 1 and random segregation of homologous chromosomes in anaphase 2
11
Q
Male gametogenesis results in ____ genetically distinct ____
A
four; spermatozoa
12
Q
Results in formation of one ovum and ___ polar bodies
A
Oogeneis 3
13
Q
23 pairs of chromosomes come together and form 46 chromosomes i.e 2n
A
fertilization
14
Q
M Phases
A
PMAT
15
Q
G1 phase
A
growth and normal metabolic roles
16
Q
S phases
A
DNA replication
17
Q
G2 Phase
A
Growth and preparation for mitosis
18
Q
Sister chromatids are linked at the
A
centromere
19
Q
Spindle fibers appear and chromosomes condense
A
Prophase
20
Q
Spindle fibers attach to chromosomes
A
Prometaphase
21
Q
Chromosomes align
A
metaphase
22
Q
centromeres divides and sister chromatids move to opposite poles
A
anaphase
23
Q
Nuclear membrane reforms and chromosomes decondense and spindle fibers dissipate
A
Telophase
24
Q
Cytoplasm divides and parent cell becomes 2 daughter cells w/ identical genetic information
A
Cytokinesis
25
Identify symbols
1. Male
2. Female
3. Consanguineous parents(relates
4. Generations
26
1. Identical Twins
| 2. Fraternal Twins
27
Traits the manifest due to inheritance of a single allele are known as
Dominate traits the dominate allele
28
Incomplete penetrance
Concept of absolute the individual has the allele and the either manifest ir or do not.... So they incompletely have allele but depends on gene if it will manifest or not
29
Variable expressivity
Range of possible outcomes some individuals with allele may have more severe manifestations than others. Spectrum
30
Familial hypercholesterolemia is an example of ____
Haploinsufficiency
31
The situation that occurs when one copy of a gene is inactivated or deleted and the remaining functional copy of the gene is not adequate to produce the needed gene product to preserve normal function.
haploinsufficiency... only one allele is active unable to compensate for the other half
32
Achondroplasia is an example of
Gain of function... Dwarfism... FGFR3 single and protein made to ossify
33
Achondroplasia occurs when
FGFR3 singles too early or too much which means the growth plate of long bones start to ossify to early and stop growing.
34
There will be complete showing of the mutation when the gene is present.
Fully Penetrant disorder... Compares to incomplete where there is a chance it may or not occur.
35
The presence of different variants at a single gene locus that cause the same or similar phenotypic expressions of a disease or condition.
allelic heterogeneity
36
Different genes can cause a similar presentation
locus heterogeneity
37
Huntington's disease is an example of a
Gain of naval function... Increase of GLN AA which can lead to neurodegeneration
38
Huntington's disease is an example of ____ penetrant
Fully penetrant. They will have the disease if they live long enough
39
Huntington's disease can become unstable because
the longer the repeat of CAG the worse the disease can be w/ symptoms and will increase in severity w/ future generations
40
Marfan disease is an example of _____.
Dominate negative
41
Only one allele w/ mutation for the effect to occur
Dominate negative. Different than haploinsufficeny because it mutation will occur w/ one allele while in haplo the genes can compensate for loss of other
42
Sonic hedgehog syndrom is a type of
incomplete penetrance and variable expressivity
| involved in the formation of midline
43
Lynch syndrome is an example of ______
two hit hypothesis
44
Dominate disease alleles are not typically inherited in homozygous state
1. rare for two individuals to have same dominate disorder
| 2. are more severe.
45
A person who just inherits one disease allele is a
Carrier and we say that functional allele is Haplosuffiicent so the disease does not manifest
46
Some genes are lethal when ______ for recessive alleles
Homozygous... the null mutation
47
Tay Sachs is a disease of ____ _____ due to the deficiency of an enzyme
Autosomal resesive
48
Deficiency of Phenylalanine hydroxyls enzyme
unable to degrade Phenylalanine.. Usually excreted through the urine but w/o enzyme may go to brain and
49
PKU treatment
Special diet, formula,
Autosomal recessive gene
50
Cystic fibrosis
Autosomal Recessive gene
Ion channel of NACL do not form
If one allele is present then they are a carrier only
51
Alpha-1 Antitrypsin Deficiency
Autosomal Recessive
52
Co Dominance ` where both alleles are detected and expressed
Sickle cell
53
X or Y which has the least amount of genes
Y mostly control formation of male sex
54
IN females X inactivations
ensures same dosage of most x-linked genes to no have duplicates
55
X*
demarcation for x linked mutant
56
Glucose 6-Phosphate dehydrogenase deficiency is an example
X-linked disorder
| Hemolytic anemia due to oxidative damage in RBCs
57
Red - green color blindness is the ability ton differentiate between red and green colors
X-Linked and is more common in males than females
58
Hemophilia is an example of
x-linked chromosomes occurs more in males and females unlikely to inherit
59
CVD
Collective term used to describe any disorder of the heart and circulatory system
60
CAD
Coronary artery disease
61
Measurable and quantifiable biological parameters which serve as indices for health and physiology
Biomarkers
62
Enzymes and proteins which serves as indices of the heart
Cardiac enzymes
63
An enzyme used in the past along w/ aminotransferases to dx an acute mi
LDH
64
which types of LDL does cardiac muscle contain
LDH-1 and LDH-2
65
onset rise of LDH
rise about 10hrs s/p onset and peak at 24-48hrs and can remain elevated for 8 days
66
AST enzymes are found in which organs
Heart and live
67
heme protein present in heart and skeletal muscles
myoglobin
68
CK subunits
MM-muscle not indicative if SKM or SKM heart
BB-brain
MB-high precent in heart
69
Troponin 3 subunits
TnC TnT and TnI
70
why is TnC not measured for MI
no isoform specific to heart
71
which troponin makers are used
cTnI and cTnT
72
Fast acting Na+ channels occur in which phase
phase 0
73
Slow acting(funny) Na channels occur at which phase
Phase 4
| Pacemaker myocytes
74
K channel transient outwards occurs in
Phase 3
75
K+ channel delayed rectifier occurs
phase 3
76
Ca2+ L-Type occurs ar
phase 2
77
T-Type Ca2+ occurs at phase
4 and are pacemaker
78
Na is high in or out of cell?
Out
79
K is high in or out of cell
in
80
CA2+ high in or out
Out
81
Contractile cardiomyoctes
Contraction and relaxation
ventricles of the heart
have increase sarcomeres
82
Pacemaker mycoses
generate AP
no sarcomeres has gap junctions
SA nodes, AV nodes and bundle of his
83
Draw the cardiomyocte graph
84
Pacemaker action potential graph
85
Phase 4
K+ leak channels open
86
Phase 0
Fast Na channels causing depolarization
87
Phase 1
Transient K+ channel open
88
Phase 2
L-Type CA2+ brings CA inside to stabilize or platue
89
Phase 3
depolarization and channels close delayed K + back into cells
90
Pacemaker AP phase 4
Funny Na Channels and slow
91
Phase 0 pacemaker AP
l-type ca2+
92
Pacemaker AP phase 3
decline and replorization due to delayed K+ channels
