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Final Review
genetics
249
Medical
Undergraduate 1
04/17/2013

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Cards

Term
What are the DNA repair mechanisms?
Definition
1. Directsion Repair
2. Mismatch Repair
3. Excision Repair
Term
What is direct repair mechanism?
Definition
1. DNA ligase: Ionizing radiation (repairs nicks in DNA)
2. Photolyase: UVB damge in bacteria --> repairs UVB damage
Term
What do mismatched repair mechanisms do?
Definition
Fix errors of replication through DNA polymerase
Term
What is DNA polymerase role in mismatch repair mechanisms
Definition
Proofreading: Repairs mismatch base pairing
Term
What sequences are prone to mismatches?
Definition
Repetitive seqences
Term
What is Base Excision Repair?
Definition
Repair that works to correct errors in lesions of DNA.
Term
In base excision how many bases are repaired at a time?
Definition
1-5 bases
Term
What damages does Base excision repair fix?
Definition
Oxidation damage and spontaneous hydrolysis or chemical agents (Deamination)
Term
What does Nucleotide Excision repair fix?
Definition
1.repairs lesions in DNA that destort the helix shape
2. repairs 30 babes
Term
What are the types of repairs of Nucloetide Excision Repair?
Definition
1. UVB damage in humans
2. chemically modified bases
3.missing bases
Term
What disease occurs from the loss of NER?
Definition
Xeroderma Pigmentosum
Term
What is XP?
Definition
rare autlsomal recessive disorder, multiple genes are involved
Term
What are the effects of XP?
Definition
-Skin cancer and extreme photo sensitivity
-people who have this have this are predisposed to cancer
Term
What distinguishes chromosomes?
Definition
the placement of the centromere
Term
What are the 4 types of chromosomes?
Definition

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

[image]

Term
in which two chromosomes do the p and q arm appear?
Definition
submetacentric and metacentric
Term
What is a chromosome?
Definition
1. Thredlike, linear structure that is composed of DNA and proteins and is visible during cell division
Term
What is cytogenetics?
Definition
1. study of chromosomes and heredity
2. discipline of genetics that matches phenotypes to detectable chromosomal abnormalities
Term
What are the three criterion for a chromosome to be considered a human chromosome?
Definition
1. It has to have centromeres
2. it has to have telomeres
3. it has to be able to replicate
Term
What is a telomere? and what are the repeating sequences that make up a telomere?
Definition
ends of chromosome that consist of many repeating TTAGGG and shorten with each mitotic division
Term
What is a Karyotype?
Definition
the chromosomal complement of a cell of an individual arranged in a sequence
Term
How is a karyotype arranged?
Definition
by size, length, and placement of centromere
Term
What are the steps of preparing a karytpe?
Definition
1. Isolate cells
2. Culture Cells
3. Stain
4. Align and Analyze chromosomes
Term
what occurs when a cell is being cultured in karyotype?
Definition
1. mitosis is stimulated: phytohemagglutinin protein
2. mitosis is then blocked at metaphase
Term
What does the notation 7q31.2 mean?
Definition
-long arm (q) of chromosome 7
-region 3
-band 1
-subband 2
Term
What is an idoegram?
Definition
A schamatic map of a chromosome
Term
what is the difference between and ideogram and a karyotype?
Definition
A kayrotype shows a complete set of chromosomes while ideograms shows a "map" of a single chromosome
Term
How are chromosomes arranged?
Definition
1. size (smallest to laregest)
2. centromere placement
3. cytogenetic placement/gene location
Term
What are the criterion used to analyze chromosomes?
Definition
1. X/Y chromosome
2. ploidy (# of chromosomes)
3.deletions, duplications, translocations, inversions
Term
What does FISH stand for?
Definition
Flourescent in situ Hybridization
Term
How does FISH work?
Definition

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

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

 

Term
What are the applications of FISH?
Definition
1. used to determine the # of copies of a specific segement of DNA present in a cell
2. used to identify structural abormailites
Term
What are the advantages of FISH?
Definition
1. metaphase or interphase cells may be ued
2. cell cultures NOT necessary
3. High resolution which enables detection of a single gene within an entire set of chromosome
Term
What are the different types of prenatal Genetic Screening?
Definition
1. Ultrasounds
2. Amniocentesis
3. Chronic Villus Sampling (CVS)
4. Fetoscopy
5. Alpha Fetoprotein
6. Fetal Cell Sorting
Term
What is a chromosome mutation?
Definition
a variation in chromosome number and arrangement, changes in the genetic material within or among chromosomes
Term
What are the shorthand notations of chromosomes?
Definition
1. total number of chrom.
2. Sex chrom
3. autosomal abnormalitites
Term
Euploidy
Definition
a somatic cell containing the normal number of chromosomes
2n=diploidy
Term
What type of chromosomal abberations are there?
Definition
1. Abnormal number
2. chromosomal rearrangments
Term
What are the three categories of mutations caused by abnormal number of chromosomes?
Definition
1. polyploidy
2. anueploidy
3. amplification
Term
What is polyploidy? and how is it caused?
Definition
cell containing one or more complete extra sets of chromosomes. Caused by errors in cell division (chromatid pairs don't seperate during anaphase)
Term
What are two types of polyploidy?
Definition
3n-triploidy
4n-tetraploidy
Term
What is anueploidy and how is it caused?
Definition
gain or loss of one or more individual chromosome. Caused by non-disjunction during meiosis
Term
What are two types of aneuploidy?
Definition
monosomy : 2n-1-->45 chromosomes
trisomoy: 2n+1--> 46 chromosomes
-trisomy of smaller chromosomes is slightly more tolerated than that of a large chromosome
Term
What is ampliflication? and what are two examples disease caused by amplification?
Definition
-trinucleotide expansion/repeat
->Huntington Disease
->Fragile X syndrome (# 1 cause of mental retardation in males)
Term
What disease are caused by sex chromosome aneuploidy?
Definition
1. Turner Syndrome: 45, X
2. Klinfelter Syndrome: 47XXY
Term
What is the chromosomal notation for Turner Syndrome?
Definition
45, X
Term
notation for klinefelter Syndrome?
Definition
47, XXY
Term
What diseases are caused by autosomal anueploidy?
Definition
1. Patau Syndrome : 47, +13
2. Edward's Syndrome : 47,
Term
What disease is caused by autosomal deletion? what is the chromosomal notation for it?
Definition
Cri-du-chat syndrome : 46, del(5p) or 46, (-5p)
Term
Klinefelter Syndrome? notation? is it sex or non sex?
Definition
disease that causes males to be sterile. notation: 47,XXY--> sex chromosome abnoramlity
Term
Turner syndrome? Notation? sex or non-sex abnormality?
Definition
disease that causes females to be sterile. Notation: 45,X-->sex
Term
Diseases due to sex chromosome abnormalities
Definition
Klinefelter and turner
Term
Trisomy? and notation
Definition
2n+1, addition of one chromosome to a dipliod gamete
Term
diseases caused by trisomy? trisomy of each is?
Definition
1.Down syndrome-->trisomy 21
2.Patau syndrome-->trisomy 13
3. Edwards Syndrome-->trisomy 18
Term
What are the chromosomal notation for Down, Patau, and Edwards syndrome? are they sex or non-sex chromosomal abnormalities?
Definition
Down Syndrome: 47, +21
Patau Syndrome:47, +13
Edwars Syndrome: 47, +18
-All non-sex abnormalities, they are due to an abnormal number of chromosomes
Term
Monosomy? Notation? what category does it fall under?
Definition
-total deletion or segmented deletion of a chromosome.
2n-1
-chromosomal anueploidy
Term
diseases caused by monosomy? and what is the notation of this disease? Why was this disease given its name?
Definition
1.Cri-du-chat syndrome
2. 46, del (5p) or 46,(-5p)
3. Those affected by the cri-du-chat make a high pitched cat-like cry due to the abnormal dev of their larynx
Term
Translocation is? types of translocation are?
Definition
the movement of a chromosomal segment to a new location in the genome TYPES: reciprical and non reciprical
Term
What is reciprical translocation?
Definition

the exchange of chromosomal segments between two non-homologous chromosomes

[image]

Term
What does CML stand for?
Definition
Chronic Myelogenou Leukemia
Term
What is CML and what is it caused by?
Definition
A type of leukemia that ic caused by reciprical translocation of chromosome # 9 and chromosome # 22
Term
Explain what occurs between chrom 9 and chrom 22 of CML
Definition

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]

Term
What is the chromosomal notation for CML?
Definition
t(9;22) or t(9q;22q)
Term
What is an oncogene? Example?
Definition

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

Term
What does an oncogene produce?
Definition
fusion oncoprotein
Term
What is non-reciprical translocation? or Robertsonian?
Definition
breaks at the end of the short arm of two non-homologous acrocentric chromosomes
Term
what is an example of a disease caused by non-reciprical translocation? and what is the chrom notation of it?
Definition

Familial down syndrome

46, t(14;21)

[image]

Term
what is the difference between paracentric and pericentric inversions?
Definition

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

Pericentric: includes centromere, changes the arm ration

Term
Molecular Genetics
Definition
the study genes that code for functional components
Term
What is biotechnology
Definition
the use of biological molecules for specific applications (i.e medicine, agriculture, and forensics)
Term
what are the steps of molecular genetics?
Definition
1. isolate gene
2. amplify DNA
3. Analyze
4. manipulate DNA
Term
What does it mean to amplify DNA, what are the two ways of amplification?
Definition
Amplify=clone=making many different genetically identical copies of an original sequence of DNA
through:
1. polymerase chain reaction (PCR)
2. Recombinant DNA
Term
What is PCR?
Definition

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

[image]

Term
What are the component of PCR?
Definition

1. Target DNA: living or existing

2. Primers

3. DNA polymerase (Taq polymerase)

4. Buffer system (MgCl2)

5. Deoxynucleotide Triphosphates (dNTPs)

Term
What is the procedure for PCR?
Definition

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 

[image]

Term
what i taq polymerase and what is it used for?
Definition

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

-stands fo thermus Aquaticus

Term
What machine is needed for PCR?
Definition

thermocyclers

[image]

Term
what is a series of reactions called in PCR? and what is its formula
Definition

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

[image]

Term
What is reverse transcriptase PCR? what is an example that RT-PCR is used to test for?
Definition

reverse transcriptase PCR uses RNA as template to synthesize cDNA

-used to test for i.e HIV

Term
What is Restriction Fragment Length Polymorphism? (RFLP)
Definition
a technique used in DNA fingerprinting

-individuals have unique fragment sizes

Term
what does polymorphism mean?
Definition
refers to the DNA sequence variation between individuals of a species
Term
RFLP and Sickle Cell disease
Definition
[image]
Term
What is electrophoresis?
Definition

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

-used to determine best pair length

[image]

Term
What is Agarose/Gel Electrophoresis used for?
Definition

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

[image]

Term
what is polyacrylamide Electrophoresis used for?
Definition

-used to seperated proteins and small molecules

[image]

Term
what is the pulse filled electrophoresis used for?
Definition

-used to seperate extremel large fragments of DNA

 

Term
What are the blotting techniques? and what are the three tyes?
Definition

material of interest is transferred from gel to membrane

1. Southern blot

2. Northern blot

3.WEstern blot

Term
What are three different types of blotting techniques?
Definition

1. Southern: DNA sample

2. Northern: RNA smaple

3.Western: protein sample

 

Term
What is Recombinant DNA?
Definition
a combinantion of DNA molecules from differerent biological species not naturally found in nature
Term
What is the basic procedure of Recombinant DNA?
Definition

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 

Term
What are restriction enzymes?
Definition
  • 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

[image]

Term
what are vectors?
Definition

carrier molecules/DNA sequences that can enter living cells

-Capable of replicating both itself and the inserted DNA fragment

 

Term
What is a plasmid vector?
Definition

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

-contains a large number of recognition sequences 

Term
what does recombinant DNA equal? what makes it easy to ID recombinant DNA in a host cell?
Definition

1. Vector and DNA fragment

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

Term
What is the difference between PCR and Recombinant DNA
Definition

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

VS

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

Term
What is the structure of healthy hemoglobin?
Definition

[image]

-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

Term
What are the components of Hemoglobin?
Definition

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

globin (protein section-made up of polypeptide chains)

Term
Which chromsomes code for hemoglobin
Definition
Chromosome 16 and 11
Term
What are the two gene clusters of chrom 11 and 16? which is located on each chrom?
Definition

alpha gene cluster (chrom 16)

beta gene cluster (chrom 11)

Term
what are the three function genes of alpha gene cluster on chrom 16?
Definition
  • a1, a2 and zeta
  • contains 3 pseudogenes
Term
what are the five beta gene clusters on chrom 11. How many seudogenes does it have?
Definition

1. B(beta)

2.delta (δ)

3.G γ

4. Aγ

5.ε(episolin)

-contains one pseudogene

Term
Chronology of globin synthesis
Definition
  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
Term
What are the three levels of hemoglobin maturation?
Definition

1. Embryonic Hemoglobin (Yolk Sac)

2. Fetal Hemoglobin (HbF)

3. Adult Hemoglobin (HbA)

Term
What are the different forms of Embryonic hemoglobin?
Definition
  • Gower 1-->ζ2ε2, the most primitive form: 5-6 weeks gestation
  • Gower 2-->a2ε2, first hemoglobin to require alpha chains: 4-12 weeks gestation
  • Portland-->ζ2γ2
Term
What are the characteristics of Fetal Hemoglobin? what is it notation?
Definition
  • (a2 δ2)
  • contains two forms of gamma: G form and A form
  • G form of gamma: 136, Glycine
  • A form of gamma: 136, Alanine
Term
What are the two types of adult hemoglobin?
Definition

HbA2-->a2δ2

-appears late in fetal development 

HbA1-->a2B2

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

Term
What are the characteristics of adult hemoglobin: HbA (a2B2)
Definition
  • 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
Term
What is the structure of hemoglobin?
Definition
quatenary
Term
What is the function of Hemoglobin?
Definition
to pick up oxygen in the lungs and release it in the tissues and pick up carbon dioxide and release it in the lungs
Term
What is oxygen affinity? and what is oxyhemogloin?
Definition

1. ability of hemoglobin to take up 0in the lungs and deliver it to sites of low oxygen tension

2. a major form of hemoglobin

Term
What is Hemoglobinopathies?
Definition
-inherited disorders/diseases affecting homoglobin
-mutation in or near globin genes
Term
Hemoglobinopathies causes mutation on what part of hemoglobin?
Definition
mutation in near or globin gene(s)-->so it effects globin chain
Term
What is the mutation notation of hemoglobin? and what type of mutation is it?
Definition

a2B26 Glu-Val

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

Term
What is qualitative mutation? and what is an example of a disease caused by a qaulitative mutation?
Definition
  • mutation changing amino acid sequence 
  • alteratiom of 3D structure of a or B chains
  • Sickle cell disease is a qualitative mutation of the hemoglobin

 

Term
What is Quantitative mutation of hemoglobin? What disease is caused by quantitative mutation?
Definition
mutations that reduce or eliminate production of one of the two globin polypeptide.
THALASSEMIA
Term
What is the first human disease to be understood at the molecular level?
Definition

SICKLE CELL

[image]

Term
what is the notation of sickle cell hemoglobin?
Definition
HbSS or a2B2s
Term
What kind of hemoglobinopathy causes Sickle Cell?
Definition
Qualitative Hemoglobinopathy
Term
What are the characteristics of Qualitative Hemoglobinopathy?
Definition
  • 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
Term
What is the mode of inheritance for sickle cell
Definition

autosomal recessive

25% have the disease

50% are carriers

25% are not affected

[image]

Term
What are the disease states of Sickle Cell?
Definition
  • Homozygous: BsBs  or a2B2s

  • Carrier States:heterozygous 
Term
Which hemoglobin is soluble and which is not?
Definition

1. Healthy Hemoglobin is insoluble regardless of oxygen state

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

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

 

Term
What does aggregation do?
Definition
causes local failures in blood supply
Term
What does accumulation of RBCs in the spleen cause?
Definition
  • Splenomegaly=huge spleen-->because the body is trying to rid of all the abnormal RBCs
Term
What are clinical features of Sickle Cell?
Definition
  • age of onset: 4-9 months of birth
Term
What is plastic Anemia?
Definition
  • lack of bone marrow function
  • associated with bacterial or viral infections
Term
WHat are the effects of Hemolytic Anemia?
Definition
  • shortened RBC life span(healthy life span is 120 days)
  • decrease in Hgb and Hct
Term
What would global gene switching drugs do for someone with sickle cell?
Definition
They would reactivate the gamma globin gene of HbF
Term
What are possible cures for Sickle Cell?
Definition
1. Bone marrow or stem cell transplant
2. Gene therapy
Term
What is the type of mutation in sickle cell? and what is the notation of the mutation?
Definition
Missense Mutation. Glutamic acid is changed to valine on the 6th chromosomes on the Beta Chain
Term
What are some diagnostics tests for Sickle Cell?
Definition
1. Evidence of drepanocytes
2. Protein analysis
3. Turbity test/protein solubility
4.Gene detection
Term
Is Thalassemia a quantitative or qualitative test?
Definition
QUANTITATIVE
Term
What do you see in the blood smear in of a patient with Thalassemia?
Definition
1. Poiki
2.microcytic
3.Hypochromic
4.little to no platelets
Term
What causes qualitative hemoglobinopathies?
Definition
1. Partial or complete suppression of correct globin chains
2. Insufficient synthesis of globin chains formation of adequate levels of hemoglobin
Term
What is the mode of inheritance for thal?
Definition
autosomal recessive, incomplete dominance
Term
How is Thal named?
Definition
named according to the chain with the reduced or absent synthesis
Term
What are the two types of Thal? and why were they named?
Definition
Thalassemia A-->missing a globin chains
Thalassemia B-->missing B globin chains
Term
What is the genetic defect in B thal?
Definition
unusally point mutations in regions that control B gene expression
Term
What is the pathophysiology in B Thalassemia?
Definition
1. ineffective Erythropoiesis
2. excess a chains are represent in RBCs
Term
What are the clinical features in B Thal Major?
Definition
1. Hepatosplenomegaly
2. Hemosiderosis(Fe overload)
Term
What is another name for B thal?
Definition
Cooley's anemia
Term
What are some treatments for someone with Thal major?
Definition
1. Desferrioxamine/Desferal: assists with Fe chelation(assists with breaking down of Fe)
2.Cord blood tranplantation (rich source of blood stem cells)
Term
The degree of decreased production of the a chain depends on?
Definition
1. specific mutation
2. number of genes affected
3. whether a2 or a1 gene is affected
Term
If your a Thal A patient would it be worse to have an affected a1 or a2 gene? and why?
Definition
an affected a2 gene will be worse becuase a2 produces about 75% of a chains in healthy RBCs
Term
What are the characteristics of thal a?
Definition
1. large deletions in the a globin gene(s)
2. excess of B chains and gamma chains form hemotetramers
Term
What is the difference between Thal in fetus and adult?
Definition
Fetus: gamma4 cahins also known as Barts
Adult: B4 cahins-->HbH
Term
What is the notation for a healthy haplotype (with Thal) for a chain? and what is the healthy genotype?
Definition
haplotype:aa Geneotype: aa/aa
Term
What is the notation for a silent carrier with thal a?
Definition
aa/a-
Term
What does aa/a- mean?
Definition
silent carrier
1. deletion of one a gene but there are 3 functioning a genes
2. the person has normal a:B chain production
3. 0-2% hb Barts(gamma4) at birth
Term
What is the notation for heterozygous a Thal?
Definition
aa/-- OR a-/a-
Term
What are the characteristics of heterozygous a Thal?
Definition
-At birth, they have Hb Barts (2-10%)
Term
What is the notation foe Hemoglobin H Disease (HbH)? and what kind of treatment does it require?
Definition
a--/--
requires chronic transfusions
individual has only one gene production of alpha chains
Term
What are the hemoglobins present in a new borns and an adult who have Hemoglobin H disease?
Definition
At birth: Hb Barts is 10-40%
Adults:
HbH--->5-40%
HbA2: reduced
Hb Barts: trae
Term
What is the notation for Hydrops Fetalis?
Definition
--/--
no alpha chains are produces
Fetus only survives into third trimester
Term
What are the hemoglobins present in Hydrops Fetalis? Which one is the predominant one?
Definition
Hb Barts: predominant
5-20% Hb Portland
trace of HbH
Term
What is the test used to ensure successful blood transfusion?
Definition
ABO test
Term
What is the first example of polymorphism in humans? and why is it considered a polymorphism?
Definition
ABO blood group
because there are 2 or more alleles for a given locus in a population
Term
What are the gene products of ABH gene production?
Definition
Proteins
Term
What are ABH antigens made of?
Definition
sugar molecules
Term
What are the requirements of ABO Red Cell antigen formation?
Definition
1. Precursor Substance 2(PS2)
2. Product of H gene (which produces the H antigen)
3. Product of ABO genes
Term
WHat i Precurser Substance 2 (PS2)
Definition
-series of 4 carbs which serves as a base structure of all ABH red cell antigens
Term
What group does PS2 attach to on RBC surface?
Definition
it attaches to the ceramide group
Term
What are the terminal and subterminal sugars connected by on the PS2?
Definition

B1-4 linkage

 

Term
Why is the H atigen so important?
Definition
bc you cannot form A or B antigen without frist inheriting H antigen
Term
What is the genetic locus for ABO antigen formation?
Definition
9q
Term
What is the gene locus for H blood group antigen formation?
Definition
chromosome 19
Term
What are the characteristics of H allele?
Definition
-dominant
Term
What is the gene product the H allele?
Definition
L-fucosyltransferase
Term
What is L-fucosyltransferase?
Definition
an enzyme which transfers a fucos(sugar) to produce substance 2 to make an H anitgen
Term
What happens when L-fucosyltransferase attaches to the PS2?
Definition
When it attaches to PS2 the H antigen is created
Term
What are the characteristics of h allele?
Definition
-its an amorph
-produces no gene product
-hh is referred to as Bombay phenotype
Term
What are the gene products of ABO alleles?
Definition
-A allele: produces N-Acetylgalactosamine transferase
-B allele: produces D-Galactosyltransferase
-O allele: produces no active transferase
Term
WHAT ARE THE IMMUNODOMINANT SUGARS FOR A AND B ANTIGENS?
Definition
-a antigen: N-acetygalactosamine
-b antigen: D-Galactose
when present, they are the terminal sugars on PS2 chain
Term
What is the most frequent blood type and which is the least frequent?
Definition
Frequent: o
least frequent: AB
Term
What is a gene?
Definition
A region of DNA, at a specific locus along a chromosome that is transcribed as a single unit for a discrete hereditary trait
Term
What is an allele?
Definition
an alternate(variant) form of a gene
there is the dominant and recessive form
Term
what is a chromosome?
Definition
a linear structure in a cell nucelaus that carries hereditary info for a cell
Term
what is a diploid chromosome?
Definition

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

[image]

Term
What is a haploid chromosome?
Definition
  • consists of a single copy of every gene OR the number of different types of chromosomes in a diploid species 
  • n=23 in humans

[image]

Term
What are the 4 types of chromosome named?
Definition
  1. autosomal chromosomes
  2. sex chromosomes
  3. homologous chromosomes
  4. non-homologous chromosomes
Term
What is an autosomal chromosome? and how many do humans have?
Definition
  • chromosomes that do not have sex detergine gene
  • humans have 22 pairs (2n=44)
Term
What are sex chromosomes? an how many pairs do humans have?
Definition
  • chromsomes which determine sex
  • humans have 1 pair, X and Y
  • 2n=2
Term
What are homologous chromsomes and which parent do we inherit them from?
Definition
  • 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]
Term
What are non-homologous chromosomes? and how do they behave during cell division? examples?
Definition
  • chromosomes that are morphilogically and genetically distinct in humans 
  • during cell division, they behave as if they are homologous
  • X and Y chromosomes
Term
  1. What is the human genome? 
  2. how many genes and bases make up the human genome?
Definition
  • 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
Term
What is the largest human gene? what does it code for?
Definition
  • largest human gene is the DMD gene
  • it codes for the protein Dsytrophin(when absent, it causes muscular dystrophy)
Term
How many base pairs make up the DMD gene? What is Dystrophin?
Definition
  • 2.5 million base pairs
  • Dsytrophin is the protein that DMD codes for, it is used for muscular purposes
Term
Where is the DMD gene located on?
Definition
located on the short arm(q) of the X chromosome
Term
What is chromatin? and what phase of the cell cycle do you see it in?
Definition
  • uncoiled extended DNA, RNA, or protein
  • you see it in interphase
  • [image]
Term
What is a chromatid?
Definition

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

[image]

Term
What is the trinity of molecular genetics?
Definition
the funational and structural relationship among DNA, RNA, and protein
Term
What are the three roles of Genetic information?
Definition
  1. diretcs cellular function
  2. largely determines an organism's phenotype(physical appearance)
  3. link between generations in every species
Term
What are cells?
Definition
structural units that constituate living organisms
Term
What determines function in Eukaryotic cells?
Definition
STRUCTURE determines function in eukaryotic cells
Term
What are stem cells?
Definition
undifferentiated cells which have not yet expressed signs of thier future (i.e cells of the fetus)
Term
What are diffrentiated cells? and how many types are there?
Definition
cells that all ready have a specific function, there are 260+ types
Term
What are three examples of differentiated cells?
Definition
  1. skin cells:keratin
  2. connective tissue: collagen
  3. pancreatic cells: insulin
Term
Do all cell types contain a human genome?
Definition
no, RBC do not, but everything else does
Term
What are organelles?
Definition
  • partitioned ares of a cell which carry out specific functions such as sectrete substances, dismantle debris, ect
Term
What is a nucleus?
Definition
a porous sac containing the priniciple genome of an organism (where DNA is located)
Term
Where does replication and rRNA synthesis take place in a cell?
Definition
the nucleus
Term
What is the Endoplasmic Recticulum (ER) and what are the names of the two types?
Definition
  • it is a network of flattened membran bound sacs 
  • type: Rough ER and Smooth ER
Term
What occurs in the smooth and rough ER?
Definition
  • 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
Term
What are the vesicles of a cell?
Definition
  • "vehicles of a cell" that are pinched off from the ER
  • they transport biochemicals to the golgi apparatus
Term
What is the function of the Golgi Apparatus ?
Definition
  • site of glycolipid and glycoprotein production and secretion
  • packages and processes proteins and other molecules for secretiion
Term
What is the function of a lysesosome?
Definition
  • "Garbage truck of cells"
  • involved in intracellualr digestion of waste products
  • they use their digestive enzymes to lyse (cut off) unwanted material


Term
What are Peroxisomes?
Definition
saclike organelles which are abundant on hepatic and renal cells-->they breakdown lipids, synthesize bile lacids, and detoxify compounds(in kidneys and liver)
Term
What is the function of the Mitochondria? and What is special about it?
Definition
  • "mighty m"
  • function: site of oxidative respiration--> ATP is made here
  • special because it contains it's own genome(mtDNA)
Term
What is the plasma(cell) membrane? and what is its function?
Definition
  • it is a semi-permeable, phospholipd bi-layer membrane that completely surrounds the cell
  • function: regulates what enters and leaves the cell
Term
What is the function of the Cytoskeleton of a cell? What is it made of?
Definition
  1. function: network of proteins filaments(actin and tubulin) which provide support within the cell
  2. made of of: microfilaments, microtubules, and intermediate filaments
Term
What is the meaning of Microfilaments? and what is its function?
Definition
  1. micro: tiny   :  filaments:threads. -->tiny threads
  2. internal cellular support and intracellular transport
  3. [image]
Term
What are microtubules? and what is their function?
Definition
  • micro=tiny  ; tubules=tubes
  • they are parallel rows of hollow spheres
  • function: makes mitotic fibers/spindles and centioles during mitosis
  • they form cilia
  • [image]
Term
What are intermediate filaments?
Definition
skin cells--lower epidermal layer
Term
What is muscular dystrophy?
Definition

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

Term
What is Cystic Fibrosis?
Definition
  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)
Term
What is Sickle cell disease?
Definition
a disease that is caused by a single nucelotide substitution on both homologs of chrom 11
Term
What is hereditary spherocytosis?
Definition
a disease that causes the collapse of RBC-->causes red blood cells to become solid spheres
Term
What is mitosis?
Definition
cellular division that makes exact copies of cells
Term
What are the stages of mitosis?
Definition
  1. prophase
  2. metaphase
  3. anaphase
  4. telophase
  5. cytokenisis
  6. PMAT and C
Term
Prophase?
Definition
  • 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]
Term
Metaphase?
Definition
  1. chromosomes align in the middle of the cell
  2. spindle fibers attach to the centromeres of chromosomes and holds them together
  3. [image]
Term
Anaphase?
Definition
  • chromsomes pull apart and centromeres divide
  • sister chromatids chromatids move to opposite poles of the cell and become daughter chromosomes
  • [image]
Term
Telophase?
Definition
  • daughter chromosomes begin to uncoil-->chromatin
  • nuclear membrane reforms
  • membranes of two cells ar still connected
  • [image]
Term
What is cytokinesis?
Definition
  • cytoplasmic division
  • two new identical cells are formed, each having a complete set of chromosomes
Term
Is cytokenisis part of mitosis?
Definition
no it is part of G1
Term
What occurs at the "S phase" of the cell cycle?
Definition
DNA synthesis-->replication of chromosomes
Term
G phase?
Definition
  • gap phases for growth, cytoplasm grows and when it is  big enough, cell begins to divide
  • made up of G1 and G2 phases
Term
What is G1 to G2 phase called?
Definition

Interphase

[image]

Term
GPhase?
Definition

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

Term
Interphase?
Definition

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

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

 

Term
What does the replication of chromosomes occur? what does it produce?
Definition

1. occurs before division

2. produces two sister chromatids joined by a centromere

3. haploid to diploid

[image]

Term
What is DNA?  its function?
Definition

1. DNA= Deoxyribonucleic Acid

2. Function: carrier of genetic information

3. Location: nucleus-->compacted into chroms

also located in Mitochondria-->mtDNA

Term
What is the Watson and Crick DNA molecule?
Definition
  • 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
Term
What is a ploymer? and what is an example of one?
Definition

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

2. DNA is an example

 

Term
What is a nucelotide made up of?
Definition

one phosphate group, one sugar, and one nitrogenous base

[image]

 

Term
What are purines? what are pyrimidines?
Definition

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

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

Purines bind with pyrimidines

Term
What is Chargaff's Rule?
Definition

 -

C    -   G  

-


    

A  -  T

-

Term
DNA replication is? what type of replication is it?
Definition

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

It is semi-conservative replication

Term
What is semi-conservative replication?
Definition
once copies are made, the original templates go back together
Term
What are the basic steps of DNA replication?
Definition
  1. hydrogen bond holding bases together are broken
  2. two strands are seperated
  3. complementary free nucelotides pair with with bases on ssDNA
Term
What are the enzymes used in DNA replication?
Definition
  1. helicase
  2. binding proteins
  3. primase
  4. DNA ploymerase
  5. Ligase
Term
Helicase
Definition
enzyme that unwinds parental double helix by breaking hydrogen bonds
Term
Binding proteins do what in DNA rep?
Definition
they stabilize separated strands by binding to ssDNA and preventing them from going back together
Term
Primase do what in DNA rep?
Definition
adds short primers to template strands (RNA primer)
Term
What does DNA ploymerase do in DNA rep?
Definition
enzymes that bind nucleotides to form new strands
Term
Ligase does what in DNA rep?
Definition
joins Okazaki Fragments and seals other nicks in sugar-phosphate backbone
Term
What occurs at the initiation state of DNA replication?
Definition

DNA helicase uses ATP to unwind parental DNA double helix

[image]

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