Genetics Vocabulary_4 Flashcards

Terms Definitions
diad
chromosome
Phenotype
Physical characteristics.
oncogene
cancer causing gene
probability= (n!/s!t!)p^s*q^t
probability formula
Anterior:
Head. (generated by bicoid)
 
replication occurs every...?
 
1/10^9 bp's
heterochromatin
dark stained, no trascription/translation but functions in mitosis/meiosis
replication
gyrase is active during
Conservative Transposons
excise and change location
Gamete
specialized cell involved in sexual reprodution  
Northern Blotts
transcriptional profilingextract RNA, run on a geltransfer RNa to membranehybridize membranes with labeled gene specific probe and expose
independent assortment
random alignment of chromosomes
A-DNA
-RNA/DNA hybrids and double-stranded RNA most forms
-shorter, greater diameter
-base-pair H bonds slanted
-major groove deep and narrow- less accessible to proteins affecting transcription
-genes transcribed at lower rate
-laboratory phenom
Alleles
Alternate form of a gene
amniosentesis
test to determine genetic defects
Hybrid
An offspring of homozygous parents differing in one or more genes.
Transgenic Mice
GMO's
Gene targeting: creating genes in mice that produce human-like diseases
Used in research to study human diseases
Uses: find causes, drug testing, gene therapy testing, AIDS research
Pedigree
a family history that shows individuals who display a particular trait and those who do not display the trait
Mutant
Less frequent genotype in the population.
Probability
likelihood that a particular event will occur
Hairpins
When there are inverted tandem repeats
Ectoderm
Outer layer (nearest the amniotic cavity)
how big are prokaryote genomes?
1000-5000 kb
functional domains
to modulate transcription, regulatory proteins possess one or more of these:
- recognizes a DNA regulatory sequence
-interacts with proteins of transcriptional apparatus
-interacts with proteins bound to nearby regulatory sequences- cooperatively regulate transcription
-influences chromatin condensation
-sensor of physiological conditions w/in cell
phenocopy
phenotype that is produced by environmental effects and is the same as the phenotype produced by a genotype.
inversion heterozygotes ... the number of recombinant progeny
reduce
why is centrifugation used?
to find G-C%
PKU
baby can't break down mothers milk
Turner's Syndrome
- condition caused by nondisjunction of the sex chromosomes
- XO females
- have only one sex chromosome
- fail to develop secondary sexual characteristics
- sterile and of short stature
intermediate inhertiance.
in which hertezygous have a phenetype
interedite between the phenetype of the two homozygous.
Direct Reversals
reversal of pyrimidine dimmers caused by UV w/ photolyase and white light. Corrected by base excision repair and segment removal.
nucleoside
consists of a sugar and a base
Spermatids
The four haploid cells produced by meiotic division of a primary spermatocyte.
Zygote
Two haploid (1N) gametes produce this diploid (2N) cell.
trisomy
genetic abnormality in which there are three copies, instead of the normal two, of a particular chromosome
purebred
An organism that always produces the same traits in its offspring is ___
Which of the following represents the genotype of a pea plant heterozygous for seed shape?A) R2 B) Rr C) rr D) RR
B
O6 methylguanine
a derivative of the nucleobase guanine in which a methyl group is attached to the oxygen atom. It base-pairs to thymine rather than cytidine, causing a G:C to T:A mutation in DNA.
Product Rule
The probability of two independent events occurring simultaneously is the product of the individual probabilities
Conjugation
Direct transfer of DNA from bacterium to another, cell contact required, not sensitive to DNAse
polymorphic
more than one allele prevalent in population
DNA polymerases
enzymes that catalyze replication can only add new nucleotides to an existing strand of DNA. The polymerase starts replication at the 3'-end of the primer, and copies the opposite strand.
epigenetics
Phenomena due to alterations to DNA that do not include changes in the base sequence; often affect the way in which the DNA sequences are expressed. Such alterations are often stable and heritable in the sense that they are passed from one cell to another.
de novo mutations
aka spontaneous mutations--not caused by exposure to known mutagen--errors in DNA replication--DNA bases have slight chemcial instability (exists in alternating forms called tautomers)
minisatellites are?
repeates 20-100 bp long
cam be generated by unequal crossover because sequence is so alike for so long
hydatidifrom mole
A hydatidiform mole is a pregnancy/conceptus in which the placenta contains grapelike vesicles that are usually visible with the naked eye. The vesicles arise by distention of the chorionic villi by fluid. When inspected in the microscope, hyperplasia of the trophoblastic tissue is noted. If left untreated, a hydatidiform mole will almost always end as a spontaneous abortion
cells not dividing; may never divide again, or may re-enter cycle when needed
G0
Synonymous substitutions
Evolve more rapidly than nonsynonymous substitutions for protein-coding genes.
Name four sex-linked disorders discussed in Chances Choices and in the Human Genetics Problems.
Hemophilia, Fragile X syndrome, colorblindness, muscular dystrophy
Define oncogene and anti-oncogene
oncogene - cancer producing geneanti-oncogene - prevents cancer
Duchenne Muscular Dystrophy
X-linked, deletion of dystrophin gene, 1 in 3500A fatal, progressive degeneration of muscle from hip/shoulder girdle out that appears before the age of 4 years survive to age 17/18. Gower's maneuverAffects voluntary muscles as well as heart and breathing muscles, most die of pneumonia or decline in pulmonary function. Most (95%) have cardiac abnormalities. Chronic heart failure develops in 50% of pts Calf hypertrophy, hyperlordosis, decreased tendon reflexes.Over 90% afflicted boys chair-bound by age 11Moderate intellectual compromiseSignificant mental retardation in 20% of ptsElevated serum creatinine kinase >50 x normalTherapy objectives: slow disease progression, maintain mobility, prevent contractures and scoliosis, weight control, optimize cardiopulmonary function.Mother-to-son: 50% risk for each son and each daughter to inherit mutationDaughters have a low risk of developing DMD, but 50 to 60% chance of developing cardiac abnormalitiesEven non-carrier mother has a 7% risk of having a boy with DMDPTC124 Trial Now Open to Boys With DuchenneMuscular Dystrophy Who Have Nonsense Mutations (15%)Nonsense mutations (premature stop codon) prematurely end the synthesis of a protein —in this case dystrophin—leading to a small, nonfunctional protein that can't perform its cellular role
Level of regulation of gene expression:Addition of carbohydrates to proteins
posttranslational and modification
Genetics
the field of biology that focuses on how characteristics are transmitted from parents to offspring
Alternative splicing
Normally introns are removed, but not always, producing completely different proteins in the transcription process.
punnett square
a model used to establish the probability of the results of a genetic cross.
Chromatin
DNA of all chromosomes and proteins in eukaryotes
Initiator
Special tRNA that inserts the first AA of a polypeptide chain into the ribosomal P site at the start of translation.
autosome
a chromosome that does not include a gene that determines sex
Direct Correction
Relies on duplication of DNA. Reverses Damage
helicase
an enzyme required to unwind DNA from a double-strand structure to a single-strand structure to facilitate replication of each strand consistent with the semiconservative model of DNA replication.
Homologous chromosomes
Chromosomes are the same but with differences. (e.g. hair color)
Fusion proteins
the double gene product that occurs when a proto-oncogene moves next to another gene and the gene pair is transcribed together---Ex: chronic myeloid leukemia (CML)
linkage group
genes located together on the same chromosome.
Transforming Principle
Griffith - found that some IIR bacteria had transformed into infectious IIIS cells by interaction with dead IIIS cells
Asexual Reproduction
Process by which a single parent reproduces by itself.
transformation
conversion of a normal animal cell to a cancerous one.
a change in genotype and phenotype due to the assimilation of external DNA by a cell.
Chorionic Villi Sampling
take tissue from chorion, fetal cells, 8 to 10 weeks)
What is a Karyotype?
Chart of chromosomes organized by size.
Describe the XO system
in insects and nemotodes with hermaphroditesmale is XO and female is XX
protein synthesis
process of making new proteins in the ribosome
The classic Hershey and Chase (1952) experiment which offered evidence in support of DNA being the genetic material in bacteriophage made use of the following labeled components
phosphorus and sulfur
Oogenesis
The formation of the egg in the ovary (during Meiosis)
conditional mutation
a mutation that has wild-type (or less severe) phenotype under certain "permissive" environmental conditions
crude estimate
of the number of genes involved by determining the fraction of the F2 that overlaps the parentals on both sides of the cruve.
 
1 gene = 1/4
2 genes = 1/16 (1/4)^2
3 genes = 1/64 (1/4)^3
4 genes = 1/256 (1/4)4
attenuator control
systems act to reduce the amount of protein produced but do not shut the gene down completely
Chi Squared Test
statistical test used to evaluate how well a set of observed values fit the expected values. The probability associated with a calculated chi-squared value is the probability that the differences between the observed and the expected values may be due to chance.
Founder Effect
The principle that when a small sample of a source population establishes itself as a separate colony, the colony will carry only part of the genetic variation of the source population, and the allele frequencies in the colony will differ from those of the parent population.
Preformation
inside an egg or sperm is a tiny person that grows, all characteristics come from one person
sense strand
the strand of DNA that is not transcribed
Law of Independent Assortment
Mendelian law stating that a random distribution of alleles occurs during the formation of gametes
structural gene
a gene that makes a protein or RNA that carries out a function in the cell but does not control the transcription of other genes
Mitosis vs. Meiosis
Mitosis - chromosome # in newly formed cells are the same as the initial cell, cells are genetically identical
 
Meiosis - chromosome number in newly formed cells is reduced by half, cells a genetically variable
Termination of Replication
 
Licencing factor
 
Could happen once 2 forks meet, some have termination sequences (Tus in Ecoli)
 
Attaches to origin and approves replication
 
 
 
What does eukaryotic RNA polymerase III do?
-transcribes small RNA molecules: tRNAs, small rRNA, some miRNAs and some snRNAs
ribosomal RNA (rRNA)
a class of RNA molecules, encoded in the nucleolar organizer, that have an intergral (but poorly understood) role in ribosome structure and function
what is the purpose of the chromosome?
organizing and managing DNA
What is Cystic Fibrosis?
Excess mucus in lungs that affects pancreas, leads to a shorter life... average is currently somewhere near 35.
Which of the following is not a possible mechanism for control of gene expression in eukaryotes?
none of the above
x chromosome dosage compensation(calico cats)
orange fur and black fur is on different x chromosomesSome fur somatic cells, the black xchrom will be inactive and others the orange= pathces of fur*males cannot have this because they only have one X chrom
tHE U TUBE EXPERIMENT SHOWED WHAT?
PHYSICAL CONTACT BETWEEN THE TWO BACTERIAL STRAINS OF THE LEDERBERG AND TATUM EXPERIMENT WAS NEEDED FOR GENETIC EXCHANGE TO OCCUR
what is the centromere?
an area of highly condensed DNA to which the spindle attaches during mitosis
Mendel's first law of segregation
The two alleles for each gene separate from each other during gamete formation.
UDS - unscheduled DNA sythesis
DNA synthesis out of S phase of interphase
ASO with microarrays can be how accurate?
what do they find?
can functionally give you gene sequence
-heterozygotes
size of bacterial DNA fragment transfer
epends on phage's chromosome - fP1 is about 1.5 min of the bacterial chromosome and no more than that can be transferred at a time.
Specialized Transduction :
1. where does lambda insert itself
2.why is the lambda d gal phage chromosome not able to replicate 
3. WHAT ARE THE MAP UNITS FOR SPECIALIZED  TRANSDUCTION
at a site called att lambda that is between the gal region and bio regions
2. because not all genes are present
3.RF
You grow a strain of Escherichia coli in medium where the only carbon source is lactose and it produces B-galactosidase. If you grow the strain in glucose as the only carbon source, there is no production of B-galactosidase. Which of the following describ
The prsence of glucose will prevent induction of B-galactosidase by lactose
false - because the code is degenerate
If one knows the exact sequence of amino acids in a peptide it is easy to determine the nucleotide sequence in the mRNA that was used in translation.
what is the basic process of cloning a simple cell?
put the nucleus of some somatic cell in to and empty egg cell
Or
+
turners
monosomy x
DNA codes for?
proteins
maternal
of the mother
Codominance
heterozygous: both phenotypes expressed
 DNA sequencing
use dideoxiribonucleosidetriphosphates (ddNTP's). Dont have a 3' OH, so when these are added they prevent the addition of any more nucleotides. Done by first having a lot of DNA copies via PCR.This is done 4 seperate time, each time with a different nucleotide. Incubate. Run on gel and then under x ray can see pieces and compare for size. THIS SEQUENCE IS OF THE COMPLEMENT TO THE ACTUAL STRAND! 
 
 
Karyotope
-CHromosomes photographed during metaphases and arranged in a sequence
incomplete dominance
neither gene dominates
Carrier
Individual that is heterozygous, doesn't show phenotype for recessive gene but will pass it on.
DNA
Deoxyribonucleic acid. Structure: sugar (deoxyribose), phosphate, base - ATCG. Double stranded.
Genotype
The sum of the Genes
deleterious
mutations that are selected against
ribose
the pentose sugar of RNA
dark bands consist of?
condensed DNA
Cross pollination
pollination between two different plants
inducer
an environmental agent that triggers transcription from a gene; example=lactose
Hybridization crosses similar individuals to bring together the best of both.
T or F?
False - Dissimilar
translation
-mRNA to amino acids-occurs in cytoplasm
Chloroplasts
as blue green algea
*endosymbist= 1.5 billion
Morgan
disc. gene pairs inherited together, separation of genes via crossing over
what does hypercondensation cause?
methylation of DNA
Sensory Neurons
bring info to the brain
Consensus sequences
Comprises the most commonly encountered nucleotides found at a specific location in DNA or RNA
kinetochore
specialized region on the centromere that links each sister chromatid to the mitotic spindle.
Pollination
transfer of pollen from anther to stigma
Types of Monoallelic Expression
Imprinting: programmed allelic exclusion
X chromosome inactivation: random allelic exclusion.
cosmid
hybrid with a cossite in a plasmid
How many human blood types are there?
3
haploid
cells with a single set of chromosomes
A eukaryotic diploid cell from an organism with the ZZ-ZW sex determination system has two pairs of autosomes and a pair of sex chromosomes, Z and W: The individual from which the cell came is
female
negative super coiling
opposite twistsalso can compactcommon in bacteria
silent
new codon codes for same amino acid
Endoplasmic reticulum
Membrane network; rough ER has ribosomes, smooth ER does not
 
site of protein synthesis and folding; lipid synthesis
Initiation complex
mRNA, small ribosomal subunit, and tRNA
What does epsilon polymerase do?
-leading strand synthesis
negative control
regulation mediated by factors that block or turn off transcription
sex-linked trait
An inherited characteristic for which there is a gene on the X chromosome but not on the Y chromosome.
Genetic Drift
Random changes in allele frequency within a population resulting from sampling error during reproduction.
Expressivity
Degree to which a trait is expressed
2. Crossing over
— exchange of genetic material between non-sister chromatids
cytosine
a nitrogen base that pairs with guanine (GC)
homozygous
having identical pairs of genes for any given pair of hereditary characteristics.
monosomy
A type of aneuploidy in which one chromosome of a homologous pair is missing from a normally diploid cell or organism. A monosomic cell is 2N ? 1.
Frameshift Mutations
result when a single nucleotide is inserted or deleted from a coding sequence and the reading frame changes.
Waht is the ratio for any two characters that comply with the law of independent assortment?
phenotype:9:3:3:1gentotype:1:1:1:1
sociobiology
the idea that social behavior is under genetic control
A condition in which one gene pair masks the expression of a non-allelic gene pair is called
epistasis
environment
can often affect the expression of a gene
allele frequency=
number of copies of an allele/total number
Complementation Test
Identify all genes that contribute to certain phenotypes.
Germ-Plasm Theory
the cells in the reproductive organs carry a complete set of genetic information that is passed to the egg and sperm
Mitosis produces new cells and only occurs in what kind of cells?
somatic cells
Theta replication
Replication of circular DNA that is initiated by the unwinding of the two nucleotide strands, producing a replication bubble. Unwinding continues at one or both ends of the bubble, making it progressively larger. DNA replication on both of the template strands is simultaneous with unwinding until the two replication forks meet.
what is cytidine?
nucleoside molecule that is formed when cytosine is attached to a ribose ring, is a componet of RNA
Duplication
Any duplication of a region of DNA that contains a gene; it may occur as an error in homologous recombination, a retrotransposition event, or duplication of an entire chromosome.
Migration
Gene flow. Movement of alleles among populations.
inborn error of metabolism
A biochemical disorder caused by mutation in a gene encoding an enzyme in a particular metabolic pathway.
Potential Risks of GMO's
Movement of transgenes to other species
Inability to predict long term consequences of introducing GMO's into the environment
double helix
twisted ladder shape of DNA, formed by two nucleotide strands twisted around each other.
Recessive Trait
The opposite of dominant. A trait that is prefentially masked.
recessive lethal allele
an allele that negatively affects the survival of a homozygous of the recessive trait
Transcription regulation of Eukaryotes
Eukaryotic genomes are bigger and their range of properties is larger than those of bacteria.DNA is packaged ino nucleosomes forming CHROMATIN.
Pre-Biotic Soup
Origin of the pre-biotic soup was from the pre biotic earth and the nature of it consisted of organic compound consisting of no less than 7 amino acids
What does tRNA do?
-helps incorporate amino acids into the polypeptide chain
mtDNA has a .... rate of mutation than nuclear DNA
higher
 
 
 
What does Quantitative Genetics examine?
How genes interact with the environment to give a continuous distribution of phenotypes for a specific trait within a population.
VNTRs, STRs and SNPs are examples of ____________.
genetic markers
where do you find polytene?
salivary glands in drosophila flies
What happens during G2 phase?
Anything that hasn't doubled, doubles here. Lasts til mitosis
A person has the genotype XY, but develops female. What is a possible explanation?
androgen insensitivity syndromemutation in SRY
Two individuals with window's peak and short fingers have a child with a continuous hairline and long fingers.  What are the genotypes of the parents (W = window's peak; S = short finger)
A. WWSS x wwss
B. WsWs x WsWs
C. WwSs x WwSs
D. Wwss x wwss
 
 
 
C. WwSs x WwSs
what is the name of a structure commonly created at the end of a transcript to prompt seperation of the RNA strand?
hairpin loop structure
 
 
 
In a large population, does inbreeding change both allelic and genotypic frequencies? If so, how?
Genotypic frequencies are changed by increasing homozygosity.
Fraenkel-Conrat & Singer
found RNA was genetic material in a plant virus (Tobacco Mosaic Virus)
point mutation
a change in a single base in a nucleotide sequence.
how do mammals handle the gene balance?
females have x chromosome inactivation. one x in females is turned into a barr body after about the 500th to 1000th cell division.
single stranded DNA binging proteins
keep separated DNA strands from coming together
 
 
 
 
What is the equation for allele frequency?
 
 
 
f = number of copies of each allele/ sum of all alleles in population
How many chromosomes in are in each human body cell?
23 pairs of 46
What are the main groups of prokaryotes and why are they different than eukaryotes?
bacteria and cyanobacteriathey have no membrane bound nucleus
what are the 3 main differences between RNA and DNA?
1. single stranded2. ribose sugar instead of deoxyribose3. Uracil replaces Thymine
what is a leading strand?
5' to 3' pol III con. adds nuleotides
4 req's for DNA to be genetic material?
 
must be able to carry information
must be able to replicate
must be able to change over time
must code for the expression of a phenotype
gene function
Of the 5 types of eukaryotic RNA polymerases, which is the main polymerase?
RNA polymerase II, transcribes the pre-mRNA
what is the ideal species to do genetic research
fruit fly: reproduces often, large # of offspring, easy to read chromosome, few chromosome, often mutations
what is the simplest way to create a BASIC restriction map?
digest a genome with a particular restriction endonuclease and then electrophorese it
Describe the nature of the ABO locus and alleles.
1 gene, 3 allelesA - Codes for AB - Codes for BO - Codes for nothing
Å
angstrom
heredity
biological inheritance
cAMP
cyclic adenosine monophosphate
Cleavage
very 1st mitotic divisions
Karyotype for Klinefelter Syndrome
47XXy
CHROMOSOME
threadlike structure within the nucleus containing the genetic information that is passed from one generation of cells to the next
pleiotrophy
multiple phenotypic effects resulting from a single gene locus
telomerase
responsible for adding repetitive sequences to the endsuses reverse transcription
selection
genotype and/or phenotype has an
advantage/disadvantage with regard to
producing the next generation
amyloid
a waxy, translucent substance, composed primarily of protein fibers, that is deposited in various organs of animals in certain diseases.
variation
how species are slightly different from each other
What disease is characterized by beta-amyloid plaques, neurofibrillary tangles and cortical atrophy?
Alzheimer's
The disease has Gower's maneuver, progressive myopathy, gait abnormality, and the inability to walk?
DMD
aneuploidy
Deletion or duplication of entire chromosomes a condition known as
Mutations
the source of genetic variation. Changes in DNA sequence. Random and low rates. Can be beneficial, neutral, or deleterious. Last two far more likely than beneficial. U = rate of Aa. After 1 generation, increase in a = Δq = u∙p. Many generations = (1-u)t = Pt / P0 where t = # generations and p are allelic freq.
cytohet
a cell containing two genetically distinct types of a specific organelle
What is the division stage called?
cleavage
Dysmorphology
The knowledge of how abnormal embryonic and fetal development results in abnormal changes
mitochrondrial DNA
circular, unique-sequence DNA rather than repetitive, only transmitted by mothers.
codes for 13 proteins
Term for the double-stranded DNA produced by reverse transcriptase is
cDNA
Heterozygous
Organisms that have two different alleles for the
F2 generation
the second generation of offspring, obtained from an experimental cross of two organisms; the offspring of the F1 generation
What condition is described as progressive motor, cognitive, and psychiatric disorder?
Huntington disease
x-linked dominant
-Affected fathers cannot transmit the disease to their sons. All of their daughters must inherit the disease gene, so all are affected.-Affected females are usually heterozygotes and thus have a 50% chance of passing the disease allele to their daughters and sons
his is characterized by LV enlargement, thin wall thickness, depressed LV systolic function?
Dialated cardiomyopathy
haplotype
set of alleles present in one individual
Negative assortative mating
individuals with dissimilar phenotypes mate preferentially
Mendelian ratio
a ratio of progeny phenotypes reflecting the operation of Mendel's laws
cis conformation
in a heterozygote involving two mutant sites within a gene or gene cluster
the dividing stage of the cell cycle-
mitosis
What disorder is characteristic of a deletion on the maternal chromosome with no replacement by the paternal chromosome?
Angelmans
What are mutated genes that signal unlimited cell division?
oncogenes
Genes
nucleotide sequence in DNA that codes for RNA synthesis, which is translated into proteins (that express traits)
PCR
Polymerase Chain Reaction (PCR). Use 2 primers amplify
probes
hybridize with DNA strands, after the strands are separated while still in the cell.used to view location of mRNA strand.
Transition mutation
point mutation purine replaces purine
or pyrimidine replaces pyrimidine (A and G purines, T and C are pyrimidine)
A replaces G
T replaces C
What type of inheritance is associated with more severe and earlier presentation
AR
pleiotropic allele
allele that affects several properties of an organism
ex. color of coat in 1 dose and death in 2 doses
polymorphism
the state or condition of being polymorphous.
co-dominance
condition in which both alleles from a gene are expressed when present
Translocation
the ribosome moves the tRNA with the attached polypeptide from the A site to the P site
7. Which of the following is not a feature of Charge Syndrome?a. Colobomab. Heart defectsc. Atresia of the choanaed. Retardation of growth and developmente. Exostoses
e
Genetic Markers
pieces of DNA with known locations within a genome.  Thay can be used to flag regions of interest
upstream downstream
When referring to the orientation of sequences along a gene, the 5’ direction is termed ____ and the 3’ direction is termed ____
 
Genetic information transfer
 
 the Central Dogma of molecular biology
SCNN1
cf genocopy is due to mutations in epithelial sodium channel gene ____Nonclassic presentation CF-like pulmonary infectionsLess severe intestinal diseaseElevated sweat chloride levelsDue to functional interaction with CFTR proteinLocus heterogeneity of CF
Semiconservative Replication
Model of replication in which each daughter DNA molecule includes an intact old strand along with a newly synthesized strand.
Rough ER
site of protein synthesis for export out of cell
R plasmid
a plasmid containing one or several transposons that bear resistance genes
dominant
the effects of these alleles are seen even if a contrasting recessive allele is present
3 forms of DNA helix
A formB formZ form
X-inactivation
(1) Occurs in females because only one copy of the X-chromosome in each cell is transcriptionally active (acts as a gene dosage compensation, the extra copy is inactivated by condensation of the chromatin)
(2) Inactivation probably occurs in the early embryo (32-64 cells)
(3) The copy of the cell that is inactivated is random (could be maternal or paternal copy in any given cell)
(4) All descendants of a cell have the same X-inactivation
(5) Can lead to mosiacism
mouse model
A laboratory mouse useful for medical research because it has specific characteristics that resemble a human disease or disorder. Strains of mice having natural mutations similar to human ones may serve as models of such conditions. Scientists can also create mouse models by transferring new genes into mice or by inactivating certain existing genes in them.
study of the genome (all the genes, dna sequences, function and organization)
genomics
Cloning vector
a stable replicating DNA molecule to which a foreign DNA fragment can be attached, for insertion into a cell
the theory of evolution integrating many fields (statistics, rules of natural selection, genetics, paleontology, biogeography, botany, evolutionary biology, etc)
the molecular clock
Proto-oncogene
A normal gene involved in some aspect of cell division or proliferation that may become activated by mutation or other mechanism to become a oncogene.
guanine
a purine base, C5H5N5O, that is a fundamental constituent of DNA and RNA, in which it forms base pairs with cytosine.
cell cycle
series of events that cells go through as they grow and divide
Meiosis
a form of cell division in which the chromosome number is reduced from the diploid to the haploid number.-when gametes are produced
Chronic Villus sampling (CVS)
a placental sampling procedure for obtaining fetal tissue for chromosome and DNA analysis to assist in prenatal diagnosis of genetic disorders.
Huntingtons's disease
Mutation is an abnormal increase in the number of CAG nucleotide repeats in the coding regionnormal repeats : 9-35 Premutation : 29-35Borderline repeats : 36-39  associated in some individuals with HD at advanced ageFull mutation : 40 and more than 40
Fertilization, then (blank), then (blank)
fertilization then meiosis then mitosis
Characteristics of Leber Hereditary Optic Neuropathy.
degeneration of optic nervecenter field of vision goes 1st20-30 year oldsmtDNA disordervariable expressivity
What are ABO blood groups?
Genetically determined classes of human blood that are based the presence or absence of carbohydrates, A & B on the surfaceof red blood cells. The ABO blood group phenotypes, also called blood types, are A, B, AB & O.
base excision repair
repair mechanism involves the use of specific DNA glycosylases to remove abnormal bases
Offspring of a cross involving the F1 generation.
F2 generation
Deamination
removal of an amino group from a base (C to U) ultimately converts G-C base pair to T-A
Disadvantages to sexual reproduction
* recombination can break-up adaptive combinations of genes
Features of Mitochondrial Inheritance Pedigrees
-All offsprings of affected mothers are affected
-only females transmit the disease
-affected males do not transmit the disease
-both males and females are affected
Type O
has neither A or B antigens and both antibodies
In hematopoiesis, what do stromal environmental changes affect?
during development, these stromal changes result in gene expression
Chromosome Heterozygote
is defined to be one normal and one defective
contrast dominant trait and recessive trait:
dominant: conditions expressed in heterozygotes
recessive: conditions manifested only in ppl homozygous for mutant allele
what removes RNA primers and fills the gaps?
DNA polyermase 1
complementary base pairs
pairing of the nitrogenous base of one strand of DNA with the nitrogenous base of another strand(Adenine with Thymine, Cytosine with Guanine)
Class II (HLA-DP, HLA-Q, HLA-DR)
these are heterodimer of alpha, beta units, presents peptides from exogenous proteins to T helper cells
The C value Paradox
The C value= DNA content of the haploid genome-no consistent relationship between the C value and the metabolic, developmental, and behavioral complexity of the organism.
3 functions/processes of SRP (signal receptor protein)?
1. stops translation
2. docks the ribosome on ER (makes it rough)
3. translocon (channel) protein makes a hole so the protein made goes into the ER, not the cytoplasm.
What are diploids? What are haploids?
diploids - cells that contain 46 chromosomeshaploids - (sex cells) contain 23 or half the amt of chromosomes
secondary structure of a protein
a spiral or zigzag arrangement of the polypeptide chain
45) What human cell type could have 22 autosomes and a Y chromosome?
Sex cells; sperm & egg
If concordance is greater among monozygotic twins than dizygotic twins, what does this say about whether or not this is a genetic trait?
there is a component of genetics with the trait
mRNA is colinear with polypeptide, meaning the ____ end of mRNA corresponds with the ____ end of polypeptide.
5' mRNA = NH2 polypeptide
3' mRNA = CO2H polypeptide
What do the cells at the edge of the trophoblast plate begin doing?
Dividing upward instead of horizontally, forming a dome over the flat sheet, forming amnion.
28. In most species females have 2 X-chromosome which males have one X-chromosomes.
The genes on just the X-chromosomes in males are hyperactive compared to the corresponding gives females.
AD,Ch4,FGFR3 gene?
Prosaic
Factual, dull, unimaginative
"blunt ends"
symmetric cleave
auxotroph
requires supplemental nutrients relative to wild-type
Non-reciprocal Traslocation
(normal)ABCDEFoGHI and QRSTUoVWXYZ(altered)QRABCDEFoGHI and STUoVWYZ or ABCDEFoGHI and STUoVWXYZQR
mitosis
division of the cell nucleus
Karyotyping
visualization of chromosomes during metaphase
Outbreeding
mating between genetically unrelated individuals
Auxotrophic
Bacterial strain requiring specific nutritional supplements to grow.
sex-linkage
the pattern of inheritance characteristic of genes located on the sex chromosomal mechanism of sex determination; one of the chromosomes involved in sex determination
gene
a discrete unit of hereditary information consisting of a specific nucleotide sequence in DNA
Testcross
Crossing individual of interest w/ unknown genotype to a known homozygous recessive individual and observing phenotypes. If some offspring show recessive trait, then unknown individual has recessive allele. If offspring all dominant trait, then unknown individual has only dominant alleles.
alcaptonuria
Garrod's observations led to theory that mutant genes produce defective enzymes
Rb Protein
Normally underphosphorylated, binds to E2F family of Transcription factors and keeps them inactivePhosphorylation--> releases E2F--> activation of transcription of target genes--> one of which is cyclin E--> complexes with Cdk2
The cohesive ends of bacteriophage lambda DNA allow ______________.
circularization
selective system
an experimental technique that enhances the recovery of specific (usually rare) genotypes
Examples of Phenotype
TallShortBrown HairOrange FurBlue Eyes
diploid
somatic cells consisting of 46 chromosomes.
intellectual property rights
Patents, copyrights, and trademarks.
"spoiler" or "rogue"
dominant negative mutation (+/M)
(mutations in genes that encode units in homo- or heterodimers)
- the spoiler (polypeptide) binds to the wild-type (polypeptide) and distorts it or otherwise interferes with its function
Natural selection
an evolutionary mechanism that occurs when some individuals of a population are better able to adapt to their environment and subsequently, produce more offspring. Differential reproductive success between individuals is the key. Those who produce more offspring have a greater influence on the gene frequencies of the next generation.
F1 Generation
the first generation of offspring obtained from an experimental cross of two organisms
S phase
DNA replication occurs, the chromosome number goes from 2n to 4n
pleiotropy
a disorder involves more than one organ system
Sutton-Boveri hypothesis
concept that linked behvior of chromosomes in meiosis to behavior of Mendelian factors
Tau protein
promotes assembly and stability of microtubules and hyperphosphorylation impairs this functionMutations are not associated with AD
mitotic crossover
a crossover resulting from the pairing of homologs in a mitotic diploid
type of analysis involving human characteristics
Phenotype analysis
random mating
mating between individuals where the choice of a partner is not influenced by the genotypes (with respect to specific genes under study)
meiosis
a process of reduction division in which the number of chromosomes per cell is cut in half and the homologous chromosomes that exist in a diploid cell are separated
test cross
unknown crossed with the homologous recessive
frameshift mutation
involves insertation or mutation of one or more base pairs
hybridization
single strand of DNA pairs with complementary sequence of bases on another strand of DNA or RNA
Features: females, short, webbed neck, lack of secondary female sex characteristics
Turner Syndrome
coupled processes
Processes that are biochemically or functionally connected such that the occurrence of the earlier process initiates or regulates the later process.
domain
An independently folding part of a protein.
linkage disequilibrium
persistence in allele combinations due to linkage -- i.e., genes that are not in random association
thymine
a pyrimidine base, C5H6N2O2, that is one of the principal components of DNA, in which it is paired with adenine.
intermediate inheritance (incomplete dominance)
-inheritance in which heterozygotes have a phenotype intermediate between the phenotypes of the two homozygotes
-dominant gene isn't completely dominant over the recessive gene
(Red + White = pink)
INCOMPLETE DOMINANCE
one allele is not completely dominant over the other allele
What are some non-mendelian inheritance patterns?
Mitochondrial, Triplet Repeat Expansions, imprinting
dominant
Allele that is expressed in the same way in a single copy (heterozygotes) as in a double copy (homozygotes)
Mosaicism
the occurrence of two or more cell lines with different genetic or chromosomal constitutions. If somatic, usually results in milder (or segmental) phenotype
regular DNA polymerase
what polymerase generates second DNA strand
mutant allele
an allele differing from the allele found in the standard, or wild-type
process in which 1/2 of each tetrad (diad) is pulled to one of the poles, at random.
disjunction
Barr bodies result in cells that have either and active or inactive x chromosome. This is called a ____ of expressivity.
Mosaic
What chromosome is "extra" in Patau syndrome?
chromosome 13
Random genetic drift
Happens to populations that are small.
What are the three germ layers, from amnion inward?
ectoderm
mesoderm
endoderm
-outer cells in ball of cells that give rise to NONE of the embryo but rather to the placenta.
-does job of implanting in endometrial lining
trophoblast
26. In both mitosis and meiosis, each chromosome replicates to produce a sister chromatids during
Interphase
Cell division...
is sensitive to the molecular events within the cell and these events may have a relatively large random component
Study of heredity - i.e., the characteristics inherited by children from their parents
Genetics
karyotype
the chromosomes of a cell displayed in a standardised, classified order
Origins of replication
special sites where the replication of a DNA molecule begins
How are chromosomes classified?
by the position of the centromere
dispermic chimeras
two sperm, two ova = one offspring; can cause true hermaphroditism
housekeeping genes
lack TATA box and CAAT boxContain GC islands insteadThought to serve as binding sites for specific transcription factorsTargets for DNA methylation
nonsense codon
a codon for which no normal tRNA molecule exists; the presence of a nonsense codon causes termination of translation (the end of the polypeptide chain)
transformation (first definition)
the directed modification of a genome by the external application of DNA from a cell of different genotype
What is the treatment of classic galactosemia?
avoid dairy products
Fragile X syndrome
After Down syndrome, the second most frequent genetic cause of mental retardation. The disorder is one of a group of diseases that results from an unusual kind of mutation: an expansion of a repeating sequence of three letters of the DNA code, called a triplet repeat or trinucleotide repeat. the repeating triplet is CGG, cytosine-guanine-guanine, in a gene called FMR1 on the X chromosome. There are ordinarily fewer than 55 copies of the repeat. When the number of repeats exceeds 200, the expansion is called a "full mutation" and expression of the FMR1 gene is shut off
map-based cloning
A strategy of gene cloning based on the position of a gene in the genetic map; also called positional cloning.
Chorionic villus sampling
the physician inserts a narrow tube through female and suctions off a small amount of fetal tissue from the placenta
chromosome theory of inheritance
genes are carried from parents to their offspring on chromosomes
When are problems with sickle cell noticed?
6 months of age
What is the adaptor that translates a triplet codon in the mRNA into an aa in the protein?
transfer RNA (tRNA)
Is the DNA of the lambda phage a circular molecule?
Of course.
Meiosis (gametogenesis) in males:
When does it start?
How many days does it take to produce a gamete?
How many gametes are produced in one meiotic cycle?
How many gametes per ovulation?
Starts: Early fetal life
Time: Between 10-50 years
Meiosis 1: Ends @ ovulation
Meiosis 2: Begins only after fertilization
# gametes: 1 (2 polar bodies)
# gametes/ovulation: 1
In dideoxy sequencing, which nucleotides would be used in the solution for the
ddA lane
ddA, dA, dT, dG and dC
Monoploid number (x)
The number of chromosomes in a single non-homologous set.
What methods do we use to detect copy number changes (deletions and duplications in genomic DNA)...
 
Just give the 4 names of the tests.
Quantitative PCR
Multiplex ligation-dependent probe amplification (MLPA)
Fluorescence in situ hybridization (FISH)
Array comparative genomic hybridization [a(CGH)]
how do chromosomes migrate?
its an activation of a series of protein assembly events that requires energy
human artificial chromosome (HAC)
A vector used to transfer or express large fragments of human DNA. HACs behave and are constructed like human chromosomes
If 2 genes are located close together
less likely to assort independently
Lactose present no glc in lac operon
– lacI induced, lac repressor inactivated
What do you use genome scanning techniques for?
To search for chromosome aberrations (differences).
What is the mechanism of cytosine deamination?
An enzyme - uracil-DNA glycoylase - recognizes & hydrolyses the U from deoxyribose.  AP endonuclease then recognizes the abasic site, initiates its repair as in depurination.  Use of thymine rather than uracil in DNA allows the detection by the DNA repair enzymes.
What happens if you take out ZPA?
AER goes away and limb development stops
What is the BRCA1 Two his hypothesis?
The first his is inherited from father and the second occurs somatically (BRCA1 no longer working)
What may cause an abnormal activation of a proto-oncogene?
may be due to a mutation or a translocation
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