Genetics Test 2
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Complete list of Terms and Definitions for Genetics Test 2

Terms Definitions
phenotype appearance
Punnette Square
Rank in severity: inversion dupication translocation deletion 3 1 3 2
DNA contains genetic information
micro-evolution changes in allele frequency
autosomes the remaing 44 chromosome
overview of eukaryotic genomes
FISH? Fluorescent in situ hybridization
Define "prophase" replicated chromatin forms chromosomessister chromatids are joined at the centromerecentrioles apearmicrotubules organize into a spindlenuclear membrane breaks downnucleus is no longer viisble
Null alleles Alleles with no function
deletion chromosome with a segment missionlarger the deletion= larger damage
age of universe 12 billion years
Chromatin structure? Genomic imprinting? epigenetic?   hypercondensation slows transcription silendces transcription selectively if inherited from one parent. whatever is causing the silencing of the gene, it is not encoded in the DNA, but inherited from outside the gene
G2 phase cell prepares for mitosis
Average coalescence time in generations for an X-linked locusin humans 3N
mRNA is AAA, what amino acid? AAA
Is huntingdons disorder Domiant or Recessive Recessive
Genomics The study of the organization, function, and evolution of genomes.
Thomas Hunt Morgan (1866-1945) 1. Studied Drosophilia searching for a new species 2. believed in evolution but rejected the idea beacuse he felt it could not be tested 3. 1910 discovered the white eye mutation with the help of Sturtevant, Bridges, and Muller 4. 1933 Nobel Prize in physiology and Medicine 
Trait -A specific characteristic that varies from one to another -What you can see: color shape size behavior   
Negative Control Inducer-repressor control of lac operon is an example of repression, which expression is blocked.
Bases “backbone” of DNA that encodes information.
inversion dicentric chromatids are one common outcome of crossover in what kind of loop
Endometrium The inner lining of the uterus
Promoter DNA sequence to which the transcription apparatus binds so as to initiate transcription; indicates the direction of transcription
Genotype The inherited combination of alleles; represented by alphabetic letters.
Incomplete dominance Intermediate phenotype in F1, parental phenotypes reappear in F2. The flowers of the snapdragon plant can be red, pink, or white. Color is determined at a single locus. The genotype RR results in red flowers and rr results in white flowers. The heterozygote genotype of Rr results in pink flowers. When the heterozygote has a different, intermediate phenotype compared to the homozygous dominant or homozygous recessive individuals, this is said to be incomplete dominance.
Hereditary passing of traits from parent to offspring
Autosome A chromosome other than the sex chromosomes
pedigree A diagram used to follow inheritance of a trait in a family.
nucleotide consists of a phosphate group, a sugar, and a base
Genetics The scientific study of heredity. Study of how traits and diseases are passed from generation to generation.
Interspersed repetitions of DNA Repetitions with non-repetitive sequence breaks. Eg: AGTC.....AGCTACGTAGCT....AGCT
Vector DNA molecule used to transfer foreign genetic material into a cell
Agouti Describes any trait that has banded layers on its hair
gene conversion aka ... nonreciprocal recombination aka ...
Linkage different genes on the same chromosome will not show independent assortment
Repulsion If the dominant and recessive alleles are on opposite members of a pair 
Chromatid-type-chromosomal aberrations happens after cells have replicated, during G2
restriction enzyme an endonuclease that will recognize specific target nucleotide sequences in DNA and break the DNA chain at those points; a variety of these enzymes are known, and they are extensively used in genetic engineering
Oogenesis production of gametes in a female animal
How many chromosome pairs do we have? 23
Transcription Process by which RNA is synthesized from a DNA template
Sexual Reproduction Reproduction in which two haploid gametes join to form a diploid zygote.
Lysogeny – transcription of the “early” genes (<- cI)] requires the protein products of cII and cIII. The cII genes activates the transcription of the cI gene. The product of cI (lambda-l) is a repressor that binds to two O operators (OR, OL) that I turn effect the initial P promoters. This blocks the initial N gene and cro gene transcription. This causes the levels of N and cro to drop dramatically. Lambda also, when bound to the operator OR will stimulate the synthesis of more repressors. With this positive feedback for the production of lambda the lysogenic pathway is established. All promoters are inhibited by the binding of lambdas (l) except for the promoter to produce more lambda (l).
Chromosomal Mutation A change in chromosome structure resulting in new gene combinations.
Gene Therapy Insertion of genes into or Individual cells & tissues, used to treat disease
Recombination the process in which a diploid cell generates a new gene or chromosomal combinations not previously found in that cell. This happens during prophase I of meiosis.
Messenger RNA (mRNA) carries message from DNA to ribosomeseach 3 bases is called a codon
microsatelite when a short sequence is repeated a variable number of times
heterozygous the condition where both alleles of a pair are different
origins of replication the sites where DNA synthesis begins
If the characteristic followed in the pedigree is autosomal recessive, what is III-1's genotype? (picture on overhead) definitely heterozygous
oncogenes alleles of genes that contain gain of function mutations derived from proto-oncogenesex: RAS stimulates cell growth, mutant RAS cannot return to inactive state so it remains active
genome collection of all the genes in an organism
sex-linked gene A gene located on a sex chromosome.
Describe the phenotype, cause, incidence, and treatment for Cleft lip/pallete Incidence: 1/1,000Reoccurrence risk: 3-5 %.
Dihybrid cross test if two different traits are inherited independently and which were dominate to the others; progeny appear in a 9:3:3:1 ratio
Linked The situation in which two genes are on the same chromosome as deduced by recombinant frequencies less than 50 percent.
continuous characteristic Displays a large umber of possible phenotypes that are not easily distinguished, such as human height
Origins of Cancer Cells 1) Cancer stem cells2) dedifferentiation and reacquisition of self renewal.3) Increase in proportion of stem and/or progenitor cells in tissue4) Out-of-control tissue repair
Non-Histone proteins are? Function?   half of all chromatin proteins scaffold - backbone of chromosome DNA replication - DNA polymerases chromosome segreagation - motor proteins of kinetochores Transcriptional regulation - regulates transcription during gene expression
Skewed X inactivation One cell line is preferentially inactivated. Normally 50%, but if inactivation hits 80% could see clinical effects
20, R In living systems, how many amino acids are formed, and what group does each amino acid differ by?
Any gene with 3 or more alleles? Multiple alleles
Mutagen any agent that can cause a change in DNA: includeshigh-energy radiation, chemicals, or high temperatures
Hereditary Nonpolyposis Colon Cancer Autosomal dominant, five genes are known to cause HNPCC called hMSH2(30%), hPMS1(rare), MSH6(rare)(all on chromosome 2), hMLH1 (chromosome 3-30%), and hPMS2 (chromosome 7-rare). 30% Unknown.Microsatellite Instability (MSI) andImmunohistochemistry (IHC) Testing-used to find which gene mutation is present. Positive genetic testing should have colonoscopy every year, prophylactic surgery possible. Phenotypic Features: age of onset: middle adulthood, colorectal cancers, multiple primary cancers.Clinical features:•Early but variable age at CRC diagnosis (~ 45 years)•Tumor site in proximal colon predominates, right side.•Extracoloniccancers including endometrial, ovary, stomach, urinary tract, small bowel, bile ducts, and sebaceous skin tumors.Amsterdam Criteria:Three or more relatives with verified CRC in familyOne case a first-degree relative of the other twoTwo or more generationsOne CRC by age 50 FAP excludedFailure to meet these criteria does not exclude HNPCC.Symptoms:none in 1st stages, blood in stool, diarrhea, constipation, crampy abdominal pain, change in bowel habits, persistent decrease in size/caliber of stool, abdominal distention, weight loss for no known reason.Exam:•Colonoscopy every 1-2 years starting by age 20-25 years or 5 to 10 years before the age of earliest colorectal cancer diagnosed in the family, whichever is younger. At age 40 begin annual colonoscopy.•For women: yearly pelvic exam with Pap test, transvaginalultrasound of the uterus and ovaries starting at age 25 and continuing annually•Consider annual upper endoscopy in families with gastric cancer.Dx: confirmed by barium enema, colonoscopy/sigmoid.Tx: removal of any polyps, colectomy or proctocolectomy.
x-linked trait a trait whos alleles are located only on the x chromosome
Nonsense mutation A type of mutation where the codon change results in a stop codon.
A Barr body is an inactivated X chromosomes, visible in the nucleus of a cell from a female mammal
cell plate The precursor to the cell wall during cytokinesis in plant cells.
Lethal alleles a phenotypic calss does not survive to reproduce
What processes ensure the fidelity of DNA replication? -DNA proofreading-nucleotide selection-mismatch repair
Ureter One of a pair of tubes that carries urine from the kidneys into the urinary bladder
epistaitc gene masks or suppresses the effect of a gene at a different locus.
Gene Pool All of the alleles represented in the reproducing members of a population.
A site site on the ribosome where the tRNA arrives
Life of Gregor Mendel father of geneticsfamous work was between the 1860's to 1880'smonk
Crick and Brenner showed that rII mutants of T4 phage induced by a chemical that causes base insertions or deletions (proflavin) could be restored to “wild type” only when recombined with second site (not revertant) “suppressor mutants” in the rII gene that were not wild type themselves.
gene balance the need to keep the same amounnt of gene expression between male and female individuals.
steps of cloning DNA and plasmid vectors are cut by restriction enzyme DNA fragments and vectors are combined and sealed up by ligase
1st Law of Mendel 1st Law: Law of segregation: alleles segregate during gamete formation
What does alpha polymerase do? -initiation of nuclear DNA synthesis and DNA repair-has primase activity
RNA world the name of a popular theory that RNA must have been the genetic material in the first cells because only RNA is known to botyh encode genetic information and catalyze biological reactions
Why is sexual reproduction more favored than asexual? Because sexual reproduction creates genetic variety
gametes a haploid cell such as a sperm or egg cell.
what is the process of spermiogenesis? when the spermatids mature into spermatazoa.
Differences between Eukaryotic and Prokaryotic transcriptional regulation 1. In bacteria, all genes are transcribed into RNA by the same RNA Pol, whereas three RNA polymerases function in Eukaryotes.2. RNA transcripts are extensively processed during transcription in eukaryotes, the 5' and 3' ends are modified and introns are spliced out.3. RNA Pol II is much larger and more complex than its bacterial counterpart. RNA Pol II must synthesize RNA AND coordinate the special processing events unique to eukaryotes.
germ line gene therapy gene therapy – the correction of a genetic deficiency in a cell by the addition of new DNA and its insertion into the genome. Different techniques have the potential to carry out gene therapy only in somatic tissues or, alternaitely, to correct the genetic deficiency in the zygote, thereby correcting the germ line as well
·         what is fragile X syndrome? A syndrome of X-linked mental retardation. The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Normally, the FMR1 gene contains between 6 and 55 repeats of the CGG codon (trinucleotide repeats). In people with the fragile X syndrome.
Which of the following describes the action of the tryptophan aporepressor? the tryptophan aporepressor binds to the trpO gene when tryptophan is present
How does eukaryotic replication differ from bacteria? -multiple origins instead of a single origin-linear chromosomes instead of circular-DNA is associated with histones, which means nucleosome assembly must occur after replication of DNA
What assumption does the H-W law make, causing it to be a standard rather than a realistic law? -large population-mating is random-not affected by mutation-no migration-no natural selection
what are the two selectable markers for plasmids? ampr: plasmids should have the ampr gene making the bacteria cell they inhabit resistant to ampicillin. if a bacteria cell doesn't get its plasmid it will die on an ampicillin medium.lacZ: most DNA inserts within a plasmid disrupt the lacZ gene. The lacZ gene makes b-galactose which cuts xgal and makes blue things. if a plasmid has a successful recombinant insert then it will be white
2 vectors used to deliver gene therapy 1) liposomes - series of phospholipids that receive genes (doesn't get immune response but doesn't work alot b/c cell doesn't want it)2) Viruses -gene is put in viruse DNA which attacs body. most viruses are very specific in attack but immune system hates it.
What are some innovations to DNA Sequencing? 1. Using plasmids: insert DNA you want to sequence, the plasmid already has an oriC and just throw in a primer2. PCR: amplify gene, separate into four vials, add on DDoxy into each, add primer 3. Dye: attach different flourescent dye to each DDoxy, then you can do it all in one test tube4. Hook up to a computer
What is a kinetchore and what does it do? A specialized protein structure at the centromere. Spindle fibers attach to it.
      What are the equations for determining the frequency of 3 alleles? (p,q,and r) p = f(A1) = (2 x count of A1A1) + (count of A1A2) + (count of A1A3) / 2 x number of individuals   q = f(A2) = (2 x count of A2A2) + (count of A1A2) + (2 x count of A2A3) / 2 x number of individuals   r = f(A3) = (2 x count of A3A3) + (count of A1A3) + (2 x count of A2A3) / 2 x number of individuals
Unfettered free, unrestrained
trisomy having 2n+1 chromosomes.
ZYGONEMA tight associated between homologous chromosomes, mediated by synaptonemal complex which connects them
ZYGONEMA prophase I synaptonemal complex
Point mutations Missense Nonsense Silent
What maintains stem cells? Hox
Chorionic villus sampling 11-14 weeks Karyotype Enzymatic studies DNA analysis No AFP because no amniotic fluid Can see placental mosaicism
Base Editing RNA modification in tRNA
Chiasmata/Chiasma X-shaped configurations marking the places of crossing over.
Telophase o Cytokinesis, re-formation of nuclei o 46 chromosomes arrive at each pole o New nuclear envelope forms around each set of chromosomes o Chromosomes begin to decondense o Cytoplasm separated (cytokinesis) – 2 daughter cells with 46 chromosomes each produced o RNA synthesis resumes
breeding among close relatives Lamarkian evolution
spindle microtubules that help separate the chromatids during mitosis
chaismata point of chrossing over; holds together tetrad
Type of study to determine contribution to disease Epidemiologic
reverse transcriptase A polymerase that mediates deoxyribonucleic acid synthesis by using a ribonucleic acid template.
Williams syndrome Rare Autosomal Dominant congenital disorder characterized by physical and development problems. Common features include characteristic "elfin-like" facial features, heart and blood vessel problems, irritability during infancy, dental and kidney abnormalities, hyperacusis (sensitive hearing) and musculoskeletal problems. Although individuals with Williams syndrome may show competence in areas such as language, music and interpersonal relations, their IQs are usually low. Both the gene for elastin and LIM kinase deleted. Both genes map to the same small area on chromosome 7.
somatic chromosomes are also called __________. autosomal
who discovered the basis for transmission of hereditary traits Mendel
1903 Walter Sutton and Theodore Boveri independently proposed that genes are located in chromosomes
Fertility The average number of offspring produced by an individual of the specified genotype during the reproductive period
karyotype The chromosomal complement of an individual, including the number of chromosomes and any abnormalities. The term is also used to refer to a photograph of an individual's chromosomes.
Silencer elements repress gene transcription, less common than enhancers -make less of a protein
the genetic makeup of an organism genotype
triplets sequences of three nitrogen bases each in DNA, know as codons in mRNA
codominance in a heterozygote, both dominant and recessive traits are expressed.
recessive alleles only produce the recessive phenotype in organisms that are homozygous for the trait.
Anticipation Trait appears either earlier or more severe in subsequent generations Seen in Fragile X, Duchenne muscular dystrophy and Huntington disease
zygoteme based on homology, homologs pair side - by-side to form bivalents
Short and long arm nomenclature p and q
class I expansion of noncoding repeats that cause a loss of protein function by impairing transcription of the preRNA from affected gene  fragile X syndrome, Friedrich ataxia
Penetrance The percentage of individuals of a given genotype that actually express the associated phenotype.
Dizygotic twins fraternal 2 sperm fertilize 2 eggs 50% of same genes ex) mel & maron
animals that have a breeding season produce sperm ______ periodically
sexduction sexual transmission of a donor E. coli chromosomal genes on the fertility factor
Insertion sequence DNA sequence capable of transposition in a prokaryotic genome; such aequences usually code for their own transposase
Complete Dominance When the dominant gene completely masks the other gene.
frameshift mutation involves insertation or mutation of one or more base pairs
S phase 7-12 hours. DNA replicated chromosome duplicated
what happens in absence of notocord? development stops
equilibrium In population genetics, a situation in which the allele frequencies remain constant from one generation to the next.
nondisjunction is maternal (meiosis II) 47, XY+18arthrogryposis=joint contractures
Sex chromosomes in a normal male somatic cell XY
Locus The position on a chromosome where a gene is located
alleles alternate form of a gene, result in slightly different DNA sequences
Which phase of bipolar disorder is described as sadness, hopelessness, suicidal thoughts or behavior , anxiety, and guilt? Depressive phase
protein-coding DNA represents only a small fraction of all single-copy DNA, most of which is found in introns or in DNA sequences that lie between genes
Imprinting modification of a gene as it is transmitted through either parent during meiosis
gene sequence of DNA that is required for production of a functional product.
Positive assortative mating – occurs when individuals with dissimilar phenotypes mate preferentially.
mating types the equivalent in lower organisms of the sexes in higher organisms; the mating types typically differ only physiologically and not in physical form
autonomous controlling element a controlling element that apparently has both regulator and receptor functions combined in the single unit, which enters a gene and causes an unstable mutation
Trisomy Disorders 1. Trisomy 21 (Down Synd.)2. Trisomy 18 (Edwards Synd.)3. Trisomy 13 (Patau Synd.)
What eminates from the AER? FGF (fibroblast growth factor)
RNA polymerase III Transcribes all transfer tRNA. Located downstream of start site.
Signalling molecules bind to other cells, telling them which part of their genome to express, which not.
Trisomy Disorders 1. Trisomy 21 (Down Synd.) 2. Trisomy 18 (Edwards Synd.) 3. Trisomy 13 (Patau Synd.)
gene library A large collection of cloning vectors containing a complete (or nearly complete) set of fragments of the genome of an organism.
34. mRNA is: The template molecule that carries genetic information from DNA in the nucleus to the ribosomes in the cytoplasm
LONG interspersion pattern__________^^^^___________ Seen primarily in birds and Dros.
Many different forms of an allele exist Multiple allele
homologous chromosomes chromosomes that contain the same set of genes
Point mutation caused by a chemical change in just one base pair of a gene
What are the most common types of congenital cardiac defects? flow lesions
frame shift mutation deletions or insertions tend to be especially harmful when the number of missing or extra base pairs is not a multiple of three. Such insertions can alter all of the downstream codons. This is termed a
antibodies what do you use to screen a cDNA library
product of meiosis one of the (usually four) cells formed by the two meiotic divisions
this is the mating (genetic cross) of individuals from 2 parent strains, each which exhibit one of 2 contrasting traits; a genetic cross b/t 2 individuals involving only one character monohybrid cross
What forms a pattern under control of diffusable signal? positional information
retrovirus A type of virus that contains RNA as its genetic material. The RNA of the virus is translated into DNA, which inserts itself into an infected cell's own DNA. Retroviruses can cause many diseases, including some cancers and AIDS.
blunt end Ends of the DNA molecule in which terminal bases are paired; the term usually refers to termini formed by restriction enzyme that does not produce ss ends.
31) If a tumor is malignant, then cancer cells from the tumor will do what? Form more tumors
in complete dominance, what are indistinguishable in what? heterozygous and dominant homozygous phenotype
Translation Initiation factors bring in the large subunit such that the initiator tRNA occupies the P site
What is the incidence of Fragile X? 1:1000-1:3600 males, 1:4000-1:600 females
How can we account for many people with HIV not getting AIDS? human endogenous retroviruses
An example of a sex-influenced trait from class is? Male-pattern baldnessDominant in malesRecessive in females
DNA polymerase (leading strand) continuously synthesizes in the 5' to 3' direction.
The different forms of a gene. Y and y are different FORMS of alleles for a gene that determines seed color. Alleles occupy the same locus, or position, on chromosomes. alleles
sub populations - isolated secs of a 'metapopulation' What is evolution?
X-linked dominant disease Only one copy of a disease allel on the X chromosome is required for individual to be susceptible.  Both males and females can be affected.  Males more severe than females I.E. oral-facial-digital syndrome type 1 and Fragile X syndrome
What is a compound heterozygote? 2 different mutant alleles at the same loci, from mom and dad
contrast locus and allelic heterogeneity: locus: mutations at diff loci result in same clinical phenotypes allelic: diff mutations at same locus
1) mouse + s - died2) mouse + r - lived3) mouse + boiled s - lived4) mouse + boiled s + r - died LINES
elevated sweat sodium and chloride what is the main phenotypic display of someone with cystic fibrosis
What is the general phenotype of Down Syndrome? upslanted palpebral fissure, flat maxillary region, short neck, hypotonia, inc risk of leukemia, congenital heart defects, GI obstructions, varying degrees of MR, inc risk of Alzheimers Disease
What gene is responsible for the sexual phenotype of an individual? Gene SRY (sex-determining region on Y) determines the sexual phenotype
How does aneuploidy of sex chromosomes occur? Nondisjunction of one of the sex chromosomes
3 Common features of DNA repair pathways 1.  Portion of hte damaged strand is removed, exposing a single-stranded region that can be as short as one nucleotide or long as hundreds. 2.  DNA pol fills in damaged strand adding dNMPs to free 3' OH of gapped strand 3.  DNA ligase seals the nick left between the 3' end of newly made DNA and 5' end of the gap, using ATP.
If a parent has two different alleles of a gene, the haploid gamete will have only one of the two alleles.
Translation RibosometRNAAmino acids
AR,Ch5,SLC26A2 gene? Diastrophic dysplasia
P generation parental plants
• Cro binds OR and OL
Chromatin Stable and ordered proteins
hybrid offspring of two different true-breeding varieties
diakinesis terminalization occurs as chiasmata approches the telomeres
purine a type of nitrogen base
Centromere holds sister chromatids together; Cohesin
Sex chromos: X and Y chromos
normal state of chromosome legitimate recombination
Proteins linear, unbranched chains of amino acids.
T-Cell Receptor Shares mechanism of somatic rearrangementsHighly variable transmembrane glycoproteinKey role in antigen recognition and T-cell functionAll chains have both C and V regions (no fine tuning or somatic point mutations)
Trancscriptional regulation usually happens at transcription initiation. Increases or decreases rate of RNA synthesis uses repressors for negative control, and activators for positive control
Heterogametic males XY make 2 different types of gametes
triplet the three nucleotide pairs that compose a codon
Cell with missing or extra chromosomes aneuploid
Loss-of-function mutation (1) More common than gain-of-function (2) The result of gene product having reduced function (3) Usually recessive but can be dominant when: (a) Reduced dosage of normal gene product changes the phenotype (haplo-insufficiency) (b) Altered protein blocks the action of the normal (wild-type) protein
acrocentric chromosome -centromere close to the tip
54) Down syndrome is characterized by having an extra copy of at least a portion of chromosome 21. What method of genetic study would quickly identify the disorder? karyotypes
MERRFs Mutated mito tRNA gene --&gt; Replicative segregation of mtDNA --&gt; homoplasmy or heteroplasmy; phenotype depends on proportion of normal to mutant mtDNA in cells of tissues therefore reduced peentrance, variable expression, and pleiotropy are all featu
homozygous refers to an individual with two identical alleles for a trait
probability the likelihood that a particular event will occur
What condition is the microdeletion of the tip of 15p? Prader-Willi/Angelman
      Inversion A portion of the chromosome is reversed in orientation. Changes the position of DNA sequences on a single chromosome without changing the amount of genetic material.
Chances of downs syndrome being found on US? 70%
Von Hippel-Lindau disease disorder with the VHL gene
Population genetics central issue = genetic variation- extent, why, and how it changes
nucleolus an organelle found in the nucleus, containing rRNA and amplified multiple copies of the genes coding for RNA
Absolute risk probability that an indiviudal will develop a particular condition
stage of prophase I where chromatids are intertwined, producting an area called a chiasma diplonema
what happens in absence of notocord? development stops
Incomplete dominance There are cases, like snapdragons, where the F1 heterozygotes actually have a different phenotype than the parental individuals
cis configuration AB/abthe wildtype are on one chromosome and the mutants are on the other.(coupling)
Bacteriophage virus that infects its host bacterium by attaching to it, boring a hold through the bacterial cell wall, and injecting its DNA while its protein coat remains attached to the cell wall. once inside it enters a lytic or lysogenic cycle
metastasis/malignancy when abnormal cell growth spreads and has invasiveness
metacentric chromosome -centromere in middle -arms equal in length
peptidyl transferase The enzymatic activity of ribosomes responsible for forming a peptide bond.
36) What human cell is haploid? sperm and egg
Any process.... that depends on biotin is different
Trisomy 18 (Edwards syndrome) growth deficiency, microcephaly, micrognathia, short sternum with widely spaced nipples, rocker bottom feet; complex CHD, horseshoe kidney, and hernias
sex linked genes genes located on either sex chromosome
Efficacious having the power to produce a desired effect
What term means the development of new growth of capillaries to further supply nutrients and oxygen to the tumor? Angiogenesis
Trisomy 18 -Known as Edwards syndrome is the second most common autosomal trisomy with a prevalence of about 1 per 6,000 live births.-It is the most common chromosome abnormality among stillborns with congenital malformations. Fewer than 5% survive to term.
Which hypothesis states that in every cell all X chromosomes (except for 1 will be inactive? Lyon hypothesis
juvenile huntingtons is caused by a massive repeat expansion that is paternal in origin
Promotor Site for RNA polymerase to bind to (DNA). Recognised by Transcription Factors. Eukaryotes – 3 features in common for structural genes – regulatory elements, TATA box, Transcriptional start site.
A to G is example of _______ mutation. transition
define meiosis the production of sex cells (gametes or spores) essential in the transmission of genetic material to offspring
XIST The gene on the mammalian X which control X-inactivation
Nucleotide (3) nitrogenous base + sugar + phosphate group--(2 neg charges)
Okazaki Fragments short segments of DNA created during replication
One gene masks the expression of a different gene for a different trait. epistasis
contact inhibition A phenomenon in normal mammalian cells in culture whereby cells cease to grow and divide when they are in close physical proximity.
Punnett square a diamond figure, that shows 4 possible combinations of gametes.
the study of the structure and function of chromosomes and genes molecular genetics
Law of segregation Mendel's First Law, which asserts that the two alleles for any given gene or trait are inhereted, one from each parent; during gamete production, only one of the two alleles will be present in each ovum or sperm.
Which genetic test is the MC used technique for examining one or more proteins in a sample of cells or tissues? Western blot
When would you use PGD? Single gene disorders, anticipated chromosomes aneuploidies
Huntingtons in this disease an error In a coding exon occursAbnormal protein
multiplicity of infection the average number of phage particles that infect a single bacterial cell in a specific experiment
redundant (repetitive) DNA DNA sequences that are present in many copies per chromosome set
Pol II holoenzyme a large protein complex containing th etype of RNA polymerase used in transcribing most protein encoding genes
STRs (Short tandem repeats) -Variation in the number of repeats -Multiple alleles, highly polymorphic (up to 90% of people heterozygous) -Di,tri, or -tetra nucleotide repeats. -Current DNA &quot;fingerprint&quot; -Detected using PCR???? northern blot????
primary immunodeficiency A group of rare inherited disorders of the immune system, including adenosine deaminase deficiency, severe combined immunodeficiency (SCID), and ataxia-telangectasia.
DNA damage checkpoint A mechanism that arrests the cell cycle while damaged DNA remains unrepaired.
What is trisomy 18 Edwards' syndrome, severe MR, rocker bottom feet, micrognathia, low ears, clenched hands, congenital heart disease, death usually <1 year
Two hit hypothesis The hypothesis that some forms of cancer can be inherited when both alleles of a tumor suppressor gene become inactivated in the same cell.
What is a process in which the release or divulgence of information by an entity is to persons or organizations outside of that entity or to another person? Full disclosure
What is the patient known as in the pedigree? The proband
What goes on the 5' end of new mRNA? PPP(triphosphate group)
How does senesence occur? as DNA is copied, telomeres shorten, which doesn't allow ends to tuck over to protect DNA
Criteria for Effective Newborn Screening Programs (1) Treatment is available (2) Early treatment reduces or eliminates the severity of the illness (3) Routine physical exam will not reveal the disorder (a specific test is required) (4) A lab test is available that is very sensitive (no false negatives) &amp; reasonable specific (few false positives) (5) Screening is cost effective (6) The infrastructure is in place to manage positive screening results
complementary DNA (cDNA) A DNA molecule made by copying RNA with reverse transcriptase ; usually abbreviated cDNA.
Almost none of the.... chemical reactions that take place in living systems can take place at temperature, pressure, or pHs of the living system without catalyst
Huntington disease A delay in the age of onset of a genetic disease is known as age dependent penetrance. One of the best known examples is ____
time of entry in an Hfr x F- bacterial mating, the earliest time that a particular gene in the Hfr parent is transferred to the F- recipient
PCR is a process to quickly make many copies of DNA fragment without cloning
linked genes the loci of the genes are on the same chromosome - the alleles on any one homolog are physically joined (linked) by the DNA between them
Eukaryotic mRNA has a ___________ at its 5' end, and a _______ at its 3' end. guanosine triphosphate CAP at 5' (which ribosomes require for initiation of translation)polyA tail at 3' end
One primer is required for each newly synthesized strand, suck as a leading strand, or okazaki fragment
The Guthrie card bacterial inhibition assay (BIA), what is the test used for neonatal diagnosis of PKU
Why are missense mutations less likely to result in proteins lacking normal function than frame shift mutations? Missense changes only one amino acid into another, while frameshift will change an amino acid and every amino acid downstream from the site of the mutation.
What purpose does Epo serve in erythroid differentiation? Epo is a survival cue (not an instructive signal) and results in massive expansion of CFU-E to reticulocytes and eventually mature erythrocytes that are continuously renewed.
What phenotype is absent in KO mice that don't express GATA-1 DNA binding protein? no red cells or megas (expressed red cells and megas)