Notes in IB final exam study this for exam 3

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Published	05/16/2024	the member through whom a family with a genetic disorder is first brought to the attention of the clinician
Published	05/16/2024	couples who have one or more ancestors in common, second cousin or closer
Published	05/16/2024	alternative versions of a gene
Published	05/16/2024	a gene's specific location along the length of a chromosome
Published	05/16/2024	same length, centromere position, banding pattern, same gene at particular locus( not necessarily same allele)
Published	05/16/2024	same allele at particular locus
Published	05/16/2024	different alleles at particular locus
Published	05/16/2024	the two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes
Published	05/16/2024	heterozygous for one character
Published	05/16/2024	heterozygous for two character
Published	05/16/2024	each pair of alleles segregates independently of the other pairs of alleles during gamete formation
Published	05/16/2024	law of independent assortment applies when two alleles are on _______ chromosomes
Published	05/16/2024	nuclear chromes that are not sex chromosomes ( X and Y )
Published	05/16/2024	Zygotes receive multiple copies of mitochondrial DNA, all from _______
Published	05/16/2024	a phenotype expressed only in homozygotes and not in heterozygotes is ________
Published	05/16/2024	The parents of the affected individuals must be heterozygotes or carriers of the mutation is known as
Published	05/16/2024	Recessive inheritance is observed when: 2 things
Published	05/16/2024	A penotype expressed in heterozygotes and homozygotes for a mutant allele is ________
Published	05/16/2024	One copy not sufficient to support normal function
Published	05/16/2024	mutant copy interferes with function of normal copy
Published	05/16/2024	mutant copy interferes with physiology via novel mechanism
Published	05/16/2024	Dominant alleles can display degrees of dominance:
Published	05/16/2024	In humans- most dominant disorders are more severe in homozygotes than heterozygotes -- __________ ________________
Published	05/16/2024	this disorder is -autosomal dominant -elevation of serum cholesterol bound to LDL -leads to cardiovascular disease
Published	05/16/2024	some characters display complete expression of each allele at the same time ______ ______
Published	05/16/2024	the probability that a gene will have any phenotypic expression at all
Published	05/16/2024	is the severity of expression of the phenotype among individuals with the same disease-causing genotype
Published	05/16/2024	somatic mutation results in more than one geneotype in a single individual
Published	05/16/2024	when is somatic mutation first suspected?
Published	05/16/2024	the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation
Published	05/16/2024	can lead to differential expression of a gene depending on whether it was inherited from mom or dad.
Published	05/16/2024	on a region of chromosome 15, the maternal and paternal contribution express certain genes differently -deletion or mutation of active copy results in…
Published	05/16/2024	on a region of chromosome 15, the maternal and paternal contribution express certain genes differently -deletion or mutation of active copy results in…
Published	05/16/2024	many genes that escape inactivation are _________3
Published	05/16/2024	extranuclear (or cytoplasmic) genes are located in _________ _________
Published	05/16/2024	extranuclear genes are located in the cytoplasm and inherited ______
Published	05/16/2024	phenotypic expression depends on the relative proportions of _______ and _______ mtDNA
Published	05/16/2024	a pure population of normal or mutant mtDNA
Published	05/16/2024	a mixture of normal and mutant mtDNA
Published	05/16/2024	multiple tissues affected
Published	05/16/2024	Mitochondria are inherited maternally, but there's more.......
Published	05/16/2024	Chronic Myelogenous Leukemia (CML) is caused by a _______ _______
Published	05/16/2024	results in abnormal chromosome number
Published	05/16/2024	results from the fertilization of gametes in which nondisjunction occurred
Published	05/16/2024	a _______ zygotę has only one copy of a particular chromosome
Published	05/16/2024	a _______ zygotę has 3 copies of a particular chromosome
Published	05/16/2024	in ______ , pairs of homologous chromes or sister chromatids do not separate normally during meisosis
Published	05/16/2024	Results from 3 copies of chromosome 21
Published	05/16/2024	what is the only known viable monosomy in humans
Published	05/16/2024	Those that vary in the population along a continuum (e.g height and skin color)
Published	05/16/2024	quantitative characters can be attributed to _______ _______
Published	05/16/2024	an additive effect of two or more genes on a single phenotypic character
Published	05/16/2024	an interaction between non allelic genes in which one gene suppresses the expression of another
Published	05/16/2024	the phenotypic range associated with a particular genotype
Published	05/16/2024	expression of ___________________ depends on a threshold of genetic and/or environmental influences
Published	05/16/2024	What are the two main classes of proteins
Published	05/16/2024	what are housekeeping proteins
Published	05/16/2024	what are speciality proteins
Published	05/16/2024	what are 3 different ways mutations can affect proteins
Published	05/16/2024	Understanding expression and function can inform ______ and ______ strategies
Published	05/16/2024	_________ reflects the complexity of genotype-phenotype relationship
Published	05/16/2024	when a given phenotype is caused by one or more mutations
Published	05/16/2024	when the mutation is at the same gene or locus for genetic heterogeneity
Published	05/16/2024	when the mutation is at a different locus for genetic heterogeneity
Published	05/16/2024	the a mutation of a given gene results in more than 1 phenotype
Published	05/16/2024	_______ is used to estimate allele and genotype frequencies
Published	05/16/2024	Hardy-Weinberg equilibrium is based on certain assumptions:
Published	05/16/2024	_______ describes a population with multiple subgroups
Published	05/16/2024	_______ and _____ lead to skewed allele frequencies
Published	05/16/2024	-mating between second cousins or closer -allows uncommon allies to become homozygous
Published	05/16/2024	_____ leads to inbreeding
Published	05/16/2024	The reduced genetic diversity that results when a population is descended from a small number of colonizing ancestors
Published	05/16/2024	allele frequencies can change drastically in small population due to ______ or ________
Published	05/16/2024	fluctuations in the frequency of a gene in a small isolated population due to random chance
Published	05/16/2024	Migration can change allele frequency by the process of ______ ______
Published	05/16/2024	the slow diffusion of genes across a reproductive barrier
Published	05/16/2024	to maintain equilibrium, the rate of new mutation must _____ rate of selection against mutant allele
Published	05/16/2024	_______ determines whether a mutation becomes lost, stable, or predominant
Published	05/16/2024	______ advantage can cause positive selection for a harmful mutation
Published	05/16/2024	what is the general structure of nucleotides
Published	05/16/2024	base + ribose =
Published	05/16/2024	what are the two purines
Published	05/16/2024	what are the three pyrimidines
Published	05/16/2024	This experiment first proved that DNA carried genetic information
Published	05/16/2024	entropy in the universe is always increasing. Organisms maintain low entropy by ______
Published	05/16/2024	haploid human genomic DNA is ________ base pairs long
Published	05/16/2024	The backbone of DNA consists of ______ linked together by _______ groups
Published	05/16/2024	The diameter of a DNA molecule is ______ and the adjacent bases are seperated by _____
Published	05/16/2024	The helix of DNA makes one turn (360 degrees) approximately every ____ nucleotides and is right handed
Published	05/16/2024	DNA can exist in several different conformations:
Published	05/16/2024	why is variability in DNA structure important?
Published	05/16/2024	where do protein binding usually occurs through?
Published	05/16/2024	Other forms of DNA with radically different structures also exist
Published	05/16/2024	what is A-form DNA
Published	05/16/2024	what is Z-form DNA
Published	05/16/2024	DNA with short ________ seqeunecs can form hairpin loops and cruciform structures
Published	05/16/2024	_______ relieves stress in the DNA molecules and spontaneously occur when DNA is under or over-wound
Published	05/16/2024	Normal B-form DNA has ______ base pairs per turn
Published	05/16/2024	most cellular DNA is ______
Published	05/16/2024	______ supercoiling is required for replication and transcription, and allows interaction of DNA with proteins so the molecule can be compacted
Published	05/16/2024	supercoiling can be described by _____, ______, and _______ numbers
Published	05/16/2024	what is linking number (Lk)
Published	05/16/2024	what is twisting number (Tw)
Published	05/16/2024	What is Writhing number (Wr)
Published	05/16/2024	how to calculate linking number
Published	05/16/2024	polyoma virus DNA( B-DNA) exists in 2 forms
Published	05/16/2024	This enzyme control the amount of supercoiling in DNA
Published	05/16/2024	what's the difference between topoisomerase I and II
Published	05/16/2024	Topisomerase alters the linking number (Lk) by catalyzing a 3 step process:
Published	05/16/2024	molecules differing only by their linking number are _______
Published	05/16/2024	Replication in E.Coli
Published	05/16/2024	what is the structure of the replication forks?
Published	05/16/2024	what are the properties of DNA polymerases of E.Coli
Published	05/16/2024	what is the properties of DNA polymerase III
Published	05/16/2024	this enzyme unwinds double-stranded DNA
Published	05/16/2024	RNase H removes the _______ and DNA pol I will fill in the gaps with ______
Published	05/16/2024	DNA synthesis is more complex in eukaryotes than in prokaryotes, it has 3 challenges
Published	05/16/2024	_______ are unique structures at the ends of linear chromosomes
Published	05/16/2024	Teleomeric DNA contains hundreds of tandem repeats of the ________ sequence AGGGTT
Published	05/16/2024	Telemeres are replicated by ________
Published	05/16/2024	RNA is capable of participating in _______
Published	05/16/2024	What are the 3 classes of RNA molecules
Published	05/16/2024	what are mRNA?
Published	05/16/2024	What are tRNAs
Published	05/16/2024	What are rRNA
Published	05/16/2024	Transcription is a reaction catalyzed by ______ ______
Published	05/16/2024	This strand is sued to direct RNA synthesis
Published	05/16/2024	RNA polymerase in prokaryotes
Published	05/16/2024	RNA polymerase in eukaryotes
Published	05/16/2024	The ____ region assists in the binding and proper orientation of RNA polymerase
Published	05/16/2024	what is the role of sigma factors
Published	05/16/2024	_______ protein complex imitates the assembly of the active transcription complex
Published	05/16/2024	transcription factors _______ are essential for initiating transcription by RNA pol
Published	05/16/2024	Binding of eukaryotic RNA pol II requires additional transcription factors
Published	05/16/2024	_____ sequences can activate transcription
Published	05/16/2024	Transfer RNA(tRNA) is extensively processed
Published	05/16/2024	defect in RNA metabolism can lead to ALS what is it
Published	05/16/2024	The genetic code is degenerate, only _____ and ____ are specified by single codons
Published	05/16/2024	lack of specificity at the _______ in codons permits existence of fewer than 61 different tRNAs
Published	05/16/2024	protein synthesis takes place in 5 stages
Published	05/16/2024	aminoacyl-tRNA synthetase reaction takes place in 3 steps
Published	05/16/2024	stage 2: Initiation of polypeptide synthesis, has 3 steps
Published	05/16/2024	what is step 1 of stage 3: elongation of protein synthesis
Published	05/16/2024	what is step 2 of stage 3: elongation of protein synthesis
Published	05/16/2024	what is step 3 of stage 3: elongation of protein synthesis
Published	05/16/2024	What is stage 4: termination of protein synthesis
Published	05/16/2024	Mutation in imitation factor 2( IFII) results in ______
Published	05/16/2024	composite rate of protein accumulation can be increased by formation of ________
Published	05/16/2024	Proteins destined for secretion, membrane insertion, or lysosomal transport are synthesized on the ________
Published	05/16/2024	what are the factors determining protein half-lives
Published	05/16/2024	what are the two major protelytic system in cells
Published	05/16/2024	ubiquinated proteins are degraded by the ______ proteasome
Published	05/16/2024	DNA folding is important for two reasons
Published	05/16/2024	The most common DNA binding proteins are
Published	05/16/2024	DNA wraps around nucleosomal core with ______ turns creating one negative supercoil
Published	05/16/2024	histone core and additional DNA is called _________
Published	05/16/2024	Nucleosomes are bound by _____ to form 30 nm wide chromatin fibers. solenoid structure
Published	05/16/2024	Approximately ____ of all human genes are unique or repeated only a few times
Published	05/16/2024	_____ of human DNA renatures quickly. This is due to the repetitive nature of some sequences
Published	05/16/2024	short heptanucleotide sequences repeated in tandem; 10-20% of total DNA; derives its name from the sedimentation rate
Published	05/16/2024	repetitive DNA at the ends of chromosomes: stabilization function
Published	05/16/2024	______________ are tandemly-repeated hundreds of times. duplication of rRNA genes allows an increase in transcription rate
Published	05/16/2024	genes coding for ______ are also clustered and repeated
Published	05/16/2024	Transcription in eukaryotes is also regulated by the degree of ______ ______
Published	05/16/2024	regions of eukaryotic DNA that are actively transcribed are also sensitive to _________ digestion
Published	05/16/2024	Eukaryotic gene activation occurs by _______ of histone core bound near the TATA box, followed by binding of transcription factors
Published	05/16/2024	Transcription may also be regulated by chemical modification of histone subunits or removal of Histone H1
Published	05/16/2024	what are regulator elements of eukaryotic promoters
Published	05/16/2024	Structure of DNA binding domain: Zinc finger
Published	05/16/2024	Structure of DNA binding domain: helix-turn-helix motif
Published	05/16/2024	Domain within transcription factors that allow Dimerization: Leucine Zipper
Published	05/16/2024	Domain within transcription factors that allow dimerization: Basic helix-loop-helix
Published	05/16/2024	What are homeotic genes
Published	05/16/2024	Initiation of transcription is regulated by 3 types of proteins in prokaryotes
Published	05/16/2024	sequence that code for functional-related proteins are clustered into trancriptional units called ____ for prokaryotes
Published	05/16/2024	what are the two type of operons
Published	05/16/2024	Lac Operon: _______ is an inducible enzyme
Published	05/16/2024	Beta-galactosidase catalyzes the hydrolysis of ______ into galactose and glucose
Published	05/16/2024	The inducer is not actually lactose, but _______ produced from lactose by transglycosylation in Lac Operon
Published	05/16/2024	What are the structures of the Lac operon
Published	05/16/2024	CRP(Cylic AMP Receptor protein) is responsible for _______ activation
Published	05/16/2024	when glucose is high, cAMP levels will be low which results in ?
Published	05/16/2024	When glucose is low, cAMP will increase which results in
Published	05/16/2024	Lactose absent, glucose either present or absent =?
Published	05/16/2024	Lactose present, glucose present =
Published	05/16/2024	Lactose present, glucose absent =
Published	05/16/2024	what are the features of the Trp operon
Published	05/16/2024	The Trp operon is also controlled by an _________ region
Published	05/16/2024	high tryptophan: attenuator prevents passage of RNA pol =
Published	05/16/2024	low tryptophan: Attenuator allows more RNA pol to pass =
Published	05/16/2024	What is the mechanism of the Trp attenuator: in high tryptophan
Published	05/16/2024	What is the mechanism of the Trp attenuator: in low tryptophan
Published	05/16/2024	what are the deviations from Hardy-Weinberg Equilibrium
Published	05/16/2024	What is the founder effect? Give an example.
Published	05/16/2024	what is genetic drift and give example
Published	05/16/2024	what are the 8 steps of protein translocation
Published	05/16/2024	what are the steps of synthesis of the Core oligosaccharides of glycoproteins?
Published	05/16/2024	what are the steps for the endocytosis that take place in clathrin-coated pits
Published	05/16/2024	How to detect HPV
Published	05/16/2024	HPV16 account for ______% of all HPV-postive head and neck cancer
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