1. Telocentric 2. Acrocentric 3. Submetacentric 4. Metacentric

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1. a labelled DNA probe is hydridized to a ssDNA on a slide

2. The hybridization occurs at a specific site on the DNA

the exchange of chromosomal segments between two non-homologous chromosomes

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1. Chrom 9 has the C-ABL gene

2. Chrom 22 has the BCR gene

3. Translocation occurs and the C-ABL gene on chrom 9 is  moved below the BCR gene of chrom 22

4. creating the BCR-ABL oncogene on chrom 22 (also known as the philadelphia chromosome)

 [image]

1. a gene that normally controls cell cycle but contributes to cancer when over expressed

2. A gain of function mutation that contribute to the production of cancer

EX: BCR-ABL oncogene

Familial down syndrome

46, t(14;21)

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paracentric: does not include centromere, all changes are done on one side of the centromere

Pericentric: includes centromere, changes the arm ration

a rapid, in vitro method for cloning without a host cell

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1. Target DNA: living or existing

2. Primers

3. DNA polymerase (Taq polymerase)

4. Buffer system (MgCl2)

5. Deoxynucleotide Triphosphates (dNTPs)

1. Denature target DNA by heating at 90-95C

-dsDNA to ssDNA

2. Annealing by heating at 50-70C

-hybridization of primers of ssDNA

3. Extention/Polymerization by heat at 70-75 C

-Taq polymerase adds complimentary bases 

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a type of DNA polymerase used in PCR to add complimentary bases to ssDNA

-stands fo thermus Aquaticus

thermocyclers

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series of reactions in PCR is called a cycle

Formula: 2^n-->n = # of cycles

-so if one molecule undergoes 25 cycles, then 3.4X10^7 copies will be made

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reverse transcriptase PCR uses RNA as template to synthesize cDNA

-used to test for i.e HIV

-individuals have unique fragment sizes

a method of seperating molecules based on charge and size in an electrical feild 

-used to determine best pair length

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used for large nucleic acids (i.e genomic DNA)

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-used to seperated proteins and small molecules

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-used to seperate extremel large fragments of DNA

material of interest is transferred from gel to membrane

1. Southern blot

2. Northern blot

3.WEstern blot

1. Southern: DNA sample

2. Northern: RNA smaple

3.Western: protein sample

1. target DNA is purified from cell

2. restriction enzymes are used to cut specific fragments of DNA

3. Vectors are used to carry DNA to host cell

4. Cloning occurs in host cell

5. isolate cloned DNA from the host cell 

• enzymes that recognize and cut DNA at specific sites..can leave a sticky or blunt end 
• they restrict and prevent viral infectionin bacteria by degrading viral DNA

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carrier molecules/DNA sequences that can enter living cells

-Capable of replicating both itself and the inserted DNA fragment

-a type of vector that carry small inserts up to 15 kb of inserted DNA

-contains a large number of recognition sequences 

1. Vector and DNA fragment

2. R-DNA has selectable markers i.e Lac-Z gene

PCR: in vitro, rapid method of cloning DNA w/ out host cell

VS

Recombinant: requires a host cell for cloning, take more time

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-4 globin chains, in each globin portion there's a heme pocket which contains iron(4 globin, 4 hemes, 4 iron)

-made up of 2a and 2B

heme(non-protein section, iron is held in) 

globin (protein section-made up of polypeptide chains)

alpha gene cluster (chrom 16)

beta gene cluster (chrom 11)

• a1, a2 and zeta
• contains 3 pseudogenes

1. B(beta)

2.delta (δ)

3.G γ

4. Aγ

5.ε(episolin)

-contains one pseudogene

1. ζ(Zeta) and ε(epsilon) chains-->0-3 months
2. α(alpha) chains are always present
3. γ(gamma) chains-->3 months gestation-1 year
4. β(beta) chains-->1 month gestation and through life

1. Embryonic Hemoglobin (Yolk Sac)

2. Fetal Hemoglobin (HbF)

3. Adult Hemoglobin (HbA)

• Gower 1-->ζ_2ε2, the most primitive form: 5-6 weeks gestation
• Gower 2-->a₂ε_2, first hemoglobin to require alpha chains: 4-12 weeks gestation
• Portland-->ζ₂γ₂

• (a₂ δ₂₎
• contains two forms of gamma: G form and A form
• G form of gamma: 136, Glycine
• A form of gamma: 136, Alanine

HbA_2-->a₂δ₂

-appears late in fetal development 

HbA₁-->a₂B₂

-most mature type of hemoglobin, major component of postnatal life

• chromosome 16 produces a(alpha) chains
• Chromosome 11 produces B(beta) chains
• a and B chains are made in equal amounts: one a chains combines with one B chain to form a dimer
• two dimers form a tetramer
• Hemoglobin is a quatenary structure

1. ability of hemoglobin to take up 0₂ in the lungs and deliver it to sites of low oxygen tension

2. a major form of hemoglobin

a₂B₂^{6 Glu-Val}

POINT MUTATION ON THE BETA GENE ON AMINO ACID 6. GLUCINE IS CHANGED TO VALINE

• mutation changing amino acid sequence 
• alteratiom of 3D structure of a or B chains
• Sickle cell disease is a qualitative mutation of the hemoglobin

SICKLE CELL

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• base substitution in both of the inherited Beta globin genes
• structural protein abnormality
• abnormal globinchain function
• Anemia reflects inability of hemoglobin variant to function normally

autosomal recessive

25% have the disease

50% are carriers

25% are not affected

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• Homozygous: B^sB^s  or a₂B₂^s
• 
  Carrier States:heterozygous 

1. Healthy Hemoglobin is insoluble regardless of oxygen state

2. Homoglobin S or (HbS) is soluable when oxygenated

• rapid destruction of drepanocytes
• causes hemolytic anemia
• over-activity of bone marrow-->its trying to compensate for anemia

• Splenomegaly=huge spleen-->because the body is trying to rid of all the abnormal RBCs

• age of onset: 4-9 months of birth

• lack of bone marrow function
• associated with bacterial or viral infections

• shortened RBC life span(healthy life span is 120 days)
• decrease in Hgb and Hct

B1-4 linkage

a chromosome that consists of two copies of every gene -2n=46 in humans

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• consists of a single copy of every gene OR the number of different types of chromosomes in a diploid species 
• n=23 in humans

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1. autosomal chromosomes
2. sex chromosomes
3. homologous chromosomes
4. non-homologous chromosomes

• chromosomes that do not have sex detergine gene
• humans have 22 pairs (2n=44)

• chromsomes which determine sex
• humans have 1 pair, X and Y
• 2n=2

• chromosome pairs of the same size, shape, centromere location, binding pattern, and gene sequence
• one is inherited from the mother and the other is inherited from the father
• [image]

• chromosomes that are morphilogically and genetically distinct in humans 
• during cell division, they behave as if they are homologous
• X and Y chromosomes

1. What is the human genome? 
2. how many genes and bases make up the human genome?

• complete set of human genetic information, stored as DNA sequences within the 23 chromosome pairs 
• genes: 25-30 thousand ; bases:3.2 billion base pairs

• largest human gene is the DMD gene
• it codes for the protein Dsytrophin(when absent, it causes muscular dystrophy)

• 2.5 million base pairs
• Dsytrophin is the protein that DMD codes for, it is used for muscular purposes

• uncoiled extended DNA, RNA, or protein
• you see it in interphase
• [image]

one of the two side-by-side replicas produced by chromosome division (1/2 of replicated chromosome)

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1. diretcs cellular function
2. largely determines an organism's phenotype(physical appearance)
3. link between generations in every species

1. skin cells:keratin
2. connective tissue: collagen
3. pancreatic cells: insulin

• partitioned ares of a cell which carry out specific functions such as sectrete substances, dismantle debris, ect

• it is a network of flattened membran bound sacs 
• type: Rough ER and Smooth ER

• smooth: fatty acids and phospolipids are formed
• rough: site of protein synthesis-->called rough because ribosomes are conneted to it and the Rough ER is also connected to the outter layer of the nucleus

• "vehicles of a cell" that are pinched off from the ER
• they transport biochemicals to the golgi apparatus

• site of glycolipid and glycoprotein production and secretion
• packages and processes proteins and other molecules for secretiion

• "Garbage truck of cells"
• involved in intracellualr digestion of waste products
• they use their digestive enzymes to lyse (cut off) unwanted material

• "mighty m"
• function: site of oxidative respiration--> ATP is made here
• special because it contains it's own genome(mtDNA)

• it is a semi-permeable, phospholipd bi-layer membrane that completely surrounds the cell
• function: regulates what enters and leaves the cell

1. function: network of proteins filaments(actin and tubulin) which provide support within the cell
2. made of of: microfilaments, microtubules, and intermediate filaments

1. micro: tiny   :  filaments:threads. -->tiny threads
2. internal cellular support and intracellular transport
3. [image]

• micro=tiny  ; tubules=tubes
• they are parallel rows of hollow spheres
• function: makes mitotic fibers/spindles and centioles during mitosis
• they form cilia
• [image]

caused by a complete lack of the protein dystrophin (which is the product of the DMD gene) in plasmsa membrane of muscle cells

-more common in males

1. a disease that caused sodium to build up in the lungs
2. caused by: Faculty Cl-/Na+ cahnnels in the plasma membrane (CFTR protein is trapped in cytoplasm)

1. prophase
2. metaphase
3. anaphase
4. telophase
5. cytokenisis
6. PMAT and C

• preperation phase

1. chromsomes are condensed and replicated from 46 to 92
2. microtublues organize into mitotic spindle at either end of cell
3. nuclear membrane breaks down
4. [image]

1. chromosomes align in the middle of the cell
2. spindle fibers attach to the centromeres of chromosomes and holds them together
3. [image]

• chromsomes pull apart and centromeres divide
• sister chromatids chromatids move to opposite poles of the cell and become daughter chromosomes
• [image]

• daughter chromosomes begin to uncoil-->chromatin
• nuclear membrane reforms
• membranes of two cells ar still connected
• [image]

• cytoplasmic division
• two new identical cells are formed, each having a complete set of chromosomes

• gap phases for growth, cytoplasm grows and when it is  big enough, cell begins to divide
• made up of G1 and G2 phases

Interphase

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the non-division phase, or the decision phase where:

1. cell growth can occur

2. cell can remain specialized

3. cell can proceed to division

-chromosomes are not visible, because they are uncoiled(chromatin)

-G1 phase, S phase (replication of chroms), G2 phase

1. occurs before division

2. produces two sister chromatids joined by a centromere

3. haploid to diploid

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1. DNA= Deoxyribonucleic Acid

2. Function: carrier of genetic information

3. Location: nucleus-->compacted into chroms

also located in Mitochondria-->mtDNA

• Right-Handed double helix
• has two strands that are antiparallel-->one strand running 5'-3' and the other running 3'-5'
• A-T and C-G base pairing (10 per turn)
• polymer

1. a large molecule that has repeating units (each called a nucleotide)

2. DNA is an example

one phosphate group, one sugar, and one nitrogenous base

[image]

purines(double ringed): A (adanine) and G (guanine)

Pyrimidines(single ringed): C (cytocine) and T (thymine)

Purines bind with pyrimidines

 -

C    -   G  

-

A  -  T

-

Highly regulated process by which base sequences of the parent molecule are copied

It is semi-conservative replication

1. hydrogen bond holding bases together are broken
2. two strands are seperated
3. complementary free nucelotides pair with with bases on ssDNA

1. helicase
2. binding proteins
3. primase
4. DNA ploymerase
5. Ligase

DNA helicase uses ATP to unwind parental DNA double helix

[image]