Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/85

Click to flip

85 Cards in this Set

  • Front
  • Back
In meiosis, the correct order of events, from first to last, is:
A. Replication, 1st division, pairing of homologous chromosomes, crossing over, 2nd division
B. Replication, pairing of homologous chromosomes, crossing over, 1st division, 2nd division
C. pairing of homologous chromosomes, crossing over, replication, 1st division, 2nd division
D. Pairing of homologous chromosomes, crossing over, 1st division, replication, 2nd division
E. Replication, pairing of homologous chromosomes, 1st division, crossing over, 2nd division
B. replication, pairing of homologous chromosomes, crossing over, 1st division, 2nd division
When is meiosis II completed in the oocyte?
A. in the fetal ovary at 20 weeks gestation
B. after birth, but before puberty
C. Prior to ovulation
D. when fertilization occurs
E. oocytes are incapable of undergoing meiosis II
prior to ovulation, C
functional contributions of the sperm to the embryo include:
A. mitochondria
B. centrosome
C. mmRNA
D. all of the above
E. none of the above
centrosome
which statement is NOT TRUE regarding male and female gametogenesis?
A. in males, meiosis begins at puberty
B. in females, meiosis II is completed at the time of ovulation
C. in males, meiosis produces four sperm
D. in females, meiosis produces an oocyte and one or two polar bodies
E. males produce more gametes than females throughout life
in females, meiosis II is completed at the time of ovulation - i don't believe this - thought it needed fertilization to finish
female (maternal) contributions to the ovum include all of the following EXCEPT:
A. haploid set of chromosomes
B. mRNA
C. plasma membrane
D. mitochondria
E. centrosome
centrosome
the maternal oocyte contributes all of the following to the embryo EXCEPT
a. mmRNA
b. mitochondria
c. plasma membrane
d. centrosome
e. a haploid nuclear genome
centrosome
which of the following statements is FALSE?
a. recombination occurs during meiosis I
b. in both females and male gametogenesis, meiotic division begins at the onset of puberty
c. men are more likely to transmit a new deleterious point mutation to their offspring
d. mitochondrial diseases are classified into 2 types: deletion and point mutation diseases
e. parental imprinting is added to the chromosome during meiosis
in both female and male gametogenesis, meiotic division begins at the onset of puberty
which of the following is the result of a Robertsonian Translocation?
a. trisomy 21
b. trisomy 18
c. turner's syndrome (45,X)
d. cri-du-chat (5p-)
trisomy 21
Robertsonian Translocations are between two acrocentric chromosomes and only involve chromosomes 13, 14, 15, 21, 22. Trisomy 13 and trisomy 21 are hte most clinically relevant examples of this translocation
which of the following is correct regarding meiosis?
a. meiotic division in males begins before the onset of puberty
b. meiosis II is not completed in females until fertilization occurs
c. males produce 1 or 2 polar bodies per each meiotic division
d. waves of new oocytes are produced throughout life in females via mitosis
b. meiosis II is not completed in females until fertilization occurs
which of the following statements is true regarding chromosomal abnormalities?
a. trisomy related diseases usually involve chromosome 21, 18, 3
b. monosomy is clinicaly seen in both the X and Y chromosomes
c. abnormal chromosome movement can take place during mitosis of meiosis
d. mosaicism involves all cells having an abnormal karyotype
e. down syndrome is caused exclusively by a tirsomy of chromosome 21
abnormal chromosome movement can take place during mitosis of meiosis
which of the following disorders is an example of monosomy (one chromosome is missing)?
a. prader willi syndrome
down syndrome
c. huntington's disease
d. turner syndrome
e. cri-du-chat syndrome
turner syndrome
meiosis reduces the chromosome number to a haploid compliment. which of the following is the correct order of meiosis?
a. replication, pairing of the homologous chromosomes, first and second meiotic divisions, recombination, parental imprinting
b. replication, pairing of the homologous chromes, recombination, first and second meiotic divisions, parental imprinting
c. pairing of the homologous chromes, first and second meiotic divisions, replication, parental imprinting, recombination
d. recom, pairing, replication, 1st and 2nd divisions, parental imprinting
e. parental imprinting, replication, pairing, divisions, recom
b.
nondisjunction
a. is one of several mechs that can lead to aneuploidy
b. increases in frequency with increasing maternal age
c. can occur in meiosis I
d. can occur in meiosis II
e. all of the above
e
which of the following conditions is not due to a genetic deletion?
a. cri-du-chat
b. prader-willi
c. angelman
d. fragile x
e. all of the above are results of DNA deletion
d. fragile x
which of the following is true?
a. turner's is result of trisomy 18
b. DNA loss can occur either during equal homologous crossing over or from chems that lead to chromosome breakage
c. in pericentric inversion, resulting chrom can have either one or two centromeres
d. rist of having abnormal infant lower if there is larger amount of DNA involved in translocation
e. in Robertsonian translocation, carriers exhibit clinical abnormalities and are prone to have reproductive problems
d
following statement about robertsonian translocation is INCORRECT
a. results from exchange of DNA tween two or more different chromes
b. usually tween chromes 13, 14, 15, 21, 22
c. result in loss of short arms of original chromes
d. individuals with robertsonian translocations always have clinical symptoms
e. common consequence is trisomy 21 (Down syndrome)
d. people with translocations not always have symptoms
there is no impact of robertsonian translocations on carriers. carriers usually identified only after having abnormal offspring
in humans, what is not true about triploidy?
a. three complete sets of chromosomes
b. two sets of chromes maternal in origin
c. possibly caused by incorporation of polar body
d. possibly caused by fertilization by diploid sperm
b. two sets of chromes maternal in origin
in humans, maternal gene set required for development of:
a. ICM into fetus
b. hydatidiform moles
c. extraembryonic membranes
d. placenta
e. partial moles
a. icm into fetus
what is a human disease involving defects in DNA methylation?
a. prader-willi syndrome
b. rett syndrome
c. fragile x
d. methylationitis
e. familial hypercholesterolemia
b. rett syndrome
which series of events leads to maternal heterodisomy?
a. nondisjunction in meiosis I in oocyte, fertilization with normal sperm, chromosome duplication
b. nondisjunction during meiosis I in oocyte, fertilization with normal sperm, chromosome loss
c. normal meiosis I in oocyte, chrom duplication, fertilization with normal sperm, chromosome loss
d. normal meiosis I in oocyte, chromosome loss, fertilization with normal sperm, chrom duplication
e. ormal meiosis I in oocyte, fertilization with genetically deficient sperm
b. nondisjunction during meiosis I in oocyte, fertilization with normal sperm, chromsome loss
in nuclear transfer experiment using mouse zygotes, you observe that the conceptus has a poorly formed placenta this could be indicative of:
a. nondisjunctional event resulting in trisomic zygote
b. zygote with two gynogenetic pronuclei
c. gynogenetic pronucleus with translocated chromosome
d. zygote with two sperm-derived pronuclei
e. none of the above
b. zygote with two gynogenetic pronuclei
which of the following statements regarding parental imprinting is FALSE?
a. paternal imprinting is limited to few chromosomal regions
b. XIST exclusively from paternal X chromosome
c. parental imprinting results in differences in gene expression, DNA methylation, DNA replication, chromatin organization tween maternal and paternal chromes
d. paternally imprinted genes are expressed only from paternal chrom
e. none of above is false
d. paternally imprinted genes expressed only from paternal chrom
which of the following statements regarding imprinting is FALSE?
a. imprinting results in differences in gene expression, DNa methylation, DNA replication, and chromatic organization tween maternal and paternal chromes
b. imprints are erased and re-established during gametogenesis
c. imprinting is found on a genome-wide scale, not just limited to a few chromosomal regions
d. true parental imprinting appears to be limited to mammals
e. imprinting is a process by which epigenetic differences between parental chromes are obtained in gametes
imprinting is found on genome-wide scale, not just limited to a few chrom regions
which of the following is NOT a char feature of imprinted loci?
a. methylation of CpG sites usually silences gene expression
b. asynchromous replication of one parental allele before other
c. paternally imprinted gene is expressed only from paternal chromosome
d. expression of imprinted gene is monoallelic rather than biallelic
c. paternally imprinted gene is NOT expressed only from paternal chromosome
which genetic mechanism does NOT cuase angelman syndrome?
a. maternal deletion of chrom 15q11-13
b. paternal disomy of chrom 15q11-13
c. maternal inheritance of amutated 15q11-13
d. patenral deletion of chrom 15q11-13
e. none of above
d.
at what position does cytosine in DNA get methylated?
a. 1
b. 9
c. 5
d. 6
e. 3
c
all of the following are true about X inactivation EXCEPT:
a. X inactivation follow the n-1 rule, so only one X chrom remains inactive in each cell, regardless of X chromosome copy number
b. X inactivation is mediated by transcription of gene XIST
c. XISt is only expressed from inactive X chromosome
d. inactive X chromosome is cytologically detected as Barr body.
e. pseudoautosomal regions of X chromosome transcriptionally active on both active and inactive chromes
a
which of following is true regarding X chrom inactivation?
a. occurs just before birth
b. can lead to mosaic pattern of X chrom expression in females
c. results in complete inactivation of X chrom
d. trisomic individuals only inactivate one X chrom
b.
what is a pathognomonic symptom of Rett's syndrome?
a. wringing of hands
b. siezures
c. obesity
d. permanent smile
e. hypoglycemia at birth
a
if a gene is maternally imprinted:
a. maternal gene turned off
b. paternally inherited gene active
c. only paternallly inherited gene expressed
d. maternally inherited gene not expressed
e. all of above true
e.
which of the following are due to genetic imprinting?
a. angelman syndrome
b. wiskott aldrich syndrome
c. beckwith-weidemann syndrome
d. a and b
e. a and c
c
all of the following are true EXCEPT:
a. CpG sites usual targets for DNA methylation
b. methylation usually silences gene expression
c. methylation erased and re-established for each generation
d. methylation of gene occurs only in exon sequences
e. problems in methylation imprinting can lead to different disorders depending on which parental chrom is affected
d.
inheritance for rett syndrome is
a. autosomal recessive
b. x-linked recessive
c. automsomal dominant with incomplete penetrance
d. x-linked dominant
e. mitochondrial
d
recent research from sweden has found that neural tube defects are associated with prenatal use of which of following?
a. cocaine
b. alcohol
c. saunas
d. tetracycline
e. kitty litter
c
which of following FALSE?
a. unmanaged pregestational diabetes can lead to increased miscarriage rate
b. maternal infection with virus, bac, parasite could have seriour consequences for fetus
c. matenral age associated with increased risk for trisomeric conception (down syndrome)
d. excessive exposure to alcohol early in embryogenesis produces babies that are on average happier, healthier and smarter
e. exposure to chemotherapeutic agents can cause major fetal malformations
d
which of following TRUE
a. if both parents heterozygous for disease, risk of giving birth to child with autosomal recessive disease 25%
b. mother has autosomal dominant disease, risk of her giving birth to child with disease is 50%
c. if father has x-linked dominant disease, risk of having GIRL baby with disease is 100%
d. after having one child with multifactorial disease, risk of recurrence in second child is 3-5%
e. all of the above
e
which of the following diseases NOT have higher incidence rate among ashkenazi jewish when compared to general population?
a. tay sachs
b. cystic fibrosis
c. gaucher
d. beta-thalassemia
e. canavan
d
diabetic patient taking medication for her diabetes comes into clinic with fasting blood sugar of 146 mg/dl (normal is less than 100 mg/dl). urine test reveals she is also pregnant. you:
a. tell her to stop taking diabetic medication as it may hurt fetus and call her obstetrician
b. tell her she is fine and send her away
c. tell her to keep taking her medication and you want to try to reduce her blood glucose level to normal (less than 100 mg/dl fasting, less than 120 mg/dl after meal). she should also see obstetrician
d. try to maintain her fasting glucose level below 150 mg/dl
e. give her steroids
c
which of following char of alpha-feto-protein levels in maternal serum (MSAFP)?
a. MSAFP is highest at 10 weeks gestation and declines progressively thereafter
b. low MSAFP allows definitive diagnosis of trisomy 18
c. MSAFP greater than or equal to 2.5 MoM (multiples of median) is considered elevated
d. AFP levels in fetal blood and maternal serum equivalent throughout gestation
e. MSAFP analysis alwaysmore sensitive than amniotic fluid AFP for detecting neural tube defects
c
birth defects have been attributed to maternal exposure during pregnancy to following teratogens EXCEPT:
a. dilantin
b. tetracyclin
c. coumadin
d. retinoic acid
e. tricor
e
one of most common causes of mental retardation in families due to:
a. fragile x mutations
b. fragile Y mutations
c. fragile XY mutations
d. all of above
e. chlorine in public drinking water
a
place sequence of events in cancer in order:
a. proliferation, mutations inactive DNA repair genes, incrased genetic instability and metastasis, mutation of proto-oncogenes to oncogenes
b. mutation of proto, proliferation, mutations, DNA repair genes inactivation, mutation inactivates suppressor genes
c. mutation inactivates suppressor gene, proliferation, mutations inactivate DNA repair genes, proto-oncogenes mutate to oncogenes, increased genetic instability and metastasis
d. increased genetic instability and metastasis, proto-oncogenes mutate to oncogenes, mutation inactivates suppressor genes, mutations inactivate DNA repair genes, cells proliferate
e. mutations inactivate DNA repair genes, mutation inactivates DNA repair genes, mutation inactivates suppressor gene, proliferation, oncogenes mutate to proto-oncogenes, increased genetic instability and metastasis
c
if a couple has a child with an isolated birth defect (that exhibits mutli-factorial inheritance) what is the chance that they will have another child with an isolated birth defect also exhibiting multi-factorial inheritance?
a. 100%
b. 60%
c. 3-5%
d. 1%
e. no increased risk
c. 3-5% commit this to memory - Dr. towner said that this number has been asked on every board exam she has ever seen
which of the following is NOT true?
a. spina bifida signified by increased levels of AFP in both amniotic fluid and maternal serum
b. down syndrome is associated with reduced levels of AFP
c. maternal serum AFP (MSAFP) screening very effective in detecting open neural defects
d. greatest sensitivity for maternal serum AFP screening (MSAFP) is after 20 weeks gestation
e. amniocentesis provides a means of testing AFP levels
d.
fetal abnormalities can result from mother's use of all of the following during pregnancy EXCEPT:
a. alcohol
b. retinoic acid
c. chemotherapeutic agents
d. most medications to treat diabetes
e. lithium for antidepression
d
is the greatest sensitivity for maternal serum screening at:
a. 15-20 weeks
b. 16-18 weeks
c. 6-8 weeks
d. 14-18 weeks
b. 16-18 weeks
following factors may be considered in assessing a mother's risk for delivering child with down syndrome:
a. maternal age
b. decreased levels of markers maternal serum AFP and unconjugates estriol (uE3)
c. increased human chorionic gonadotropin (hCG) levels
d. family history of down syndrome
e. all of above
e
MSAFP (maternal serum alpha fetoprotein) is a screening blood test offered to women between their 15th and 20th week of pregnancy. elevated levels of MSAFP can indicate all of following EXCEPT:
a. mother is pregnant with twins
b. fetal anencephaly
c. fetal trisomy 21 (down syndrome)
d. pregnancy is further along than previously thought
e. fetus spinal bifida
C
chorionic villus sampling (CVS) involves aspirating sample of placental tissue by passing small catheter or needle into placenta transcervically or transadominally with ultrasound guidance. select the answer that is TRUE regarding CVS:
a. biochemical studies on amniotic fluid can be conducted from aspirated sample
b. all karyotypic abnormalities seen in sample tissue exactly mirror those of fetus
c. limb defects are highly associated with CVS performed at less than 10 weeks, and even after 10 weeks, risk exists
d. accuracy of results decreases with long term culture of 1-2 weeks
e. cell cultures of sample cannot be used for enzymatic studies and DNA analysis
C
which of the following components MUST the egg receive from the sperm (to become the progenitor for the embryo):
a. mRNA
b. mitochondria
c. centrioles
d. plasma membrane
c
glucose-6-phosphate dehydrogenase (G6PD) is an enzyme involved in the pathway for ribose and NADPH synthesis. which of following statements regarding G6PD deficiency is FALSE:
a. G6PD deficiencies are mostly caused by missense mutations
b. gel electrophoresis can be used to distinguish mutant alleles of G6PD
c. G6PD deficiency causes an increase of NADPH in RBCs
d. G6PD is associated with more than 69 different mutations
e. primaquine-induced hemolytic anemia is caused by a genetically determined deficiency in G6PD
C
which of the following statements regarding primaquine-induced hemolytic anemia is CORRECT:
a. primaquine-induced hemolytic anemia caused by inability to catabolize phenylalanine and tyrosine in presence of primaquine in body
b. primaquine is antiretroviral drug that inhibits reverse
c. primaquine was found to induce hemolytic anemia in people who had a deficiency in glucose-6-phosphate dehydrogenase, an enzyme necessary for NADPH synthesis
d. people with primaquine-induced hemolytic anemia were found to have RBCs with half-lives over twice as long as normal
e. both A and D
C
hemophilia A caused by deficiency in blood clotting factor called Factor VIII. what is the mode of transmission for hemophilia A?
a. autosomal dominant
b. autosomal recessive
c. X-linked dominant
d. x-linked recessive
e. autosomal dominant with sex-limited expression
d
which of following is NOT contributed to embryo by sperm?
a. plasma membrane
b. cell surface antigens
c. mitochondria
d. genetic material
e. centrosome
c
recessive phenotypes typically result in:
a. gain of function mutations
b. loss of function mutations
c. either gain or loss of function mutations
d. neither gain nor loss of function mutations
B
which of the following statements is not true regarding Huntington's Disease:
a. is inherited in autosomal dominant manner
b. it involves an expansion of CGG triplet repeats
c. patients with HD may exhibit symptoms of memory loss and motor problems
d. the triplet expansion encodes polyglutamine track in Huntintin protein
B
in fragile x syndrome, sherman paradox refers to:
a. risk of disease increases with successive generations
b. risk of disease decreases with successive generations
c. risk of disease is higher if the mother is the carrier as opposed to the father
d. A and C
e. B and C
d
which of the following is a triplet expansion disease?
a. hemophilia A
b. familial hypercholesterolemia
c. cystic fibrosis
d. huntington's disease
e. duchenne muscular dystrophy
d
huntington's disease is
a. a CAG triplet expansion located on translated portion of mRNA
b. CGG triplet expansion located on 5' untranslated portion of mRNA
c. an X-linked recessive disease resulting in a deficiency of a blood clotting factor
d. an X-linked dominant disease resulting in cognitive deficits
e. an autosomal recessive disease characterized by delayed onset, memory loss and severe motor problems
A
you have studied several types of human genetic disorders including those resulting from nucleotide triplet expansion in successive generations. which answer below includes two diseases that result from triplet expansion?
a. fragile x syndrome and huntington disease
b. fragile x and familial hypercholesterolemia
c. huntington disease and familial hypercholesterolemia
d. familial hypercholesterolemia and hemophilia
e. hemophilia and fragile x syndrome
a
triplet expansion diseases are characterized by:
a. an increased number of trinucleotide repeats within the untranslated or translated portions of gene
b. increased risk of disease with successive generations due to further expansion of repeat, referred to as anticipation
c. individuals with intermediate numbers of trinucleotide repeats, called permutation carriers, who may or may not display a disease phenotype
d. all of above
e. none of above
d
huntington's disease is:
a. an autosomal dominant disease
b. an x-linked disease
c. an autosomal recessive disease
d. not transmitted from father to son
e. only homozygous individuals are affected
a
inheritance pattern where risk of disease increases with successive generations is referred to as:
a. triplet expansion
b. anticipation
c. premutation
d. hyperexpressivity
e. aneuploidy
b
which of the following polymorphisms can be used to predict whether a genetic disease will be co-inherited?
a. single nucleotide polymorphism (SNP)
b. restriction fragment length polymorphism (RFLP)
c. simple sequence repeats (SSR) or microsatellites
d. all of above
e. none of above
d
which of following statements concerning RFLPs (restriction fragment length polymorphisms) is FALSE?
a. DNA sequences corresponding to RFLPs associated with disease gene can be isolated and used asa hybridization probe for identification of disease gene
b. RFLPs are physical alterations (mutations) and therefore are not genetically inheritable
c. a change in one nucleotide can lead to the creation of a new restriction site
d. restriction sites are cleaved by endonucleases
b
a benefit or goal of mapping the human genome includes:
a. identification of a defective gene (sequence) for a particular disease
b. developing and testing of gene therapy products
c. developing diagnostic genetic screening tests for particular diseases
d. assists in identifying genes associated with complex human genetic disease
e. all of above
e.
when of following is NOT a char of FMR-1 related disorders?
a. FMR-1 disorders include fragile x syndrome, fragile x-associated tremor/ataxia syndrome (FXTAS) and FMR-1-related premature ovarian failure (POF)
b. these disorders are mostly due to a mutation in FMR1 gene caused by an increased number of CGG trinucleotide repeats accompanied by aberrant methylation of FMR1 gene which can sometimes demonstrate genetic anticipation in some families
c. people with fragile x have full mutation of FMR1 gene (greater than 200 CGG trinucleotide repeats) while males with FXTAS and females with FMR-1 releated premature ovarian failure have a premutation of the gene (59 to 200) CGG trinucleotide repeats)
d. males with FXTAS will transmit their FMR1 premutation expansion to all their sons and daughters, who will be premutation carriers
e. when a male child is diagnosed with fragile x syndrome and his mother is found to have a premutation allele, his maternal grandfather is then known to be at risk of developing FXTAS
d
frequency of recombination between two markers increases with increasing distance between the markers up to a meaningful maximum of:
a. 10%
b. 25%
c. 50%
d. 100%
e. 200%
c
human genome project has been coordinated by NIH and what other government agency:
a. department of defense
b. department of homeland security
c. department of transportation
d. department of energy
e. food and drug administration
d
fill in blank: frequency of recombination between two markers increases with [blank] distance between the markers
a. decreasing
b. increasing
c. no change in
d. none of above
b
restriction fragment length polymorphisms (RFLPs):
a. are a type of SNP (single nucleotide polymorphism)
b. caused by an alteration in a recognition site for a restriction endonuclease to cause either an addition or deletion of a restriction site
c. can be used to map disease genes
d. are genetically inherited
e. all of the above
e
in order to test efficiency of replication deficient HSV-1 (large DNA virus) based gene therapy vector, you construct an expression cassette consisting (from 5' to 3') of a SV40 promoter that controls expression of a green fluorescent protein (GFP) followed by a poly-A tail signal and then a CMV (a large DNA virus) promoter sequence that controls expression of a neomyocin resistance (G418 sulfate resistance) gene followed by a poly-A tail signal. You insert this expression cassette into the genome of your viral vector, generate virus on a complementing cell line and infect human cells in tissue culture treated with G418 sulfate. after several days you see robust GFP expression from your cells, but after several passages, all GFP expression is lost. you use 1 sequencing primer specific for the neomycin gene that sequences "out" of the cassette and determine that the sequence downstream (3') of the cassette is a site in chrom three of the host genome. which of the following explains best why GFP expression ws initially observed and then lost?
a. virus was replication deficient; progeny virus could not be made to infect subsequent cells
b. G418 sulfate had expired and could not exert positive selective pressure on cells in which expression cassette had stably-integrated into genome
c. CMV promoter doesn't work in context of a different virus (HSV-1) and therefore could not express neomycin gene, since there was no selectable marker, cels could not express GFP
d. initial GFP expression was due to episomal (not integrated into host genome) viral genomes in host nucleus. after several passages there was partial integration of part of cassette and episomal viral geomes were lost. partial integration resulted in only CMV-neo-polya portion being stably recombined into host genome
e. poly-a tail signal interferes with teh CMV promoter sequence and therefore GFP transcript cannot be made
d
germline gene therapy is currently not approved by FDA for use on humans because:
a. requires use of DNA microinjection which is physically impossible to do with mammalian cells
b. research using gene therapy has thus demonstrated that the diseased phenotype cannot be rescued in animal models
c. gene therapy currently targets only dominant acting mutations which represent a small fraction of all diseases
d. manipulation of human germline carries the potential risk of creating harmful genetic alterations which can be passed onto offspring
e. FDA is upset with Craig Venter's egocentrism demonstrated by his sequencing his own DNA for the purposes of sequencing the human genome
d
the process of transduction introduces genes of interest into mammalian cells by:
a. directl injecting cloned DNA into nucleus
b. directly injecting cloned DNA into cytoplasm
c. using a viral vector to infect cells with cloned DNA
d. growing cells in medium with large amounts of naked cloned DNA
C
all of following are true of retrovirus EXCEPT:
a. high efficiency transduction of appropriate target cell
b. long term expression due to integration into chromosomal DNA
c. potential for insertional mutagenesis
d. no limitation on insertion size
e. require cell division
d
gene therapy makes it possible to deliver genes that code for a functional product to specific cells lacking a functional version of that product. However, not every genetic diorder is a candidate for gene therapy. this type of technology will most likely play a role in treating which one of the following problems?
a. autosomal dominant
b. disorders where phenotype is reversed only by high levels of a missing protein
c. cancer
d. disorders where high levels of therapeutic gene product are cytotoxic
e. disorders that are currently treated very effectively by supplying the missing protein
C
synchronous and efficient delivery of gene of interest to a large number of cells is an advantage of which of following methods of introducing DNa into mammalian cells?
a. microinjection
b. transduction
c. genetic complementation
d. dominant selection
e. recombination
b
which of following is an issue for human gene therapy?
a. efficient delivery of therapeutic gene to specific target cell
b. maintenance of therapeutic gene in target cell
c. stable transmission of therapeutic gene to progeny cells
d. proper control of expression in therapeutic gene in target cell
e. all of above
e
an individual is shown to carry a marker locus allele that is linked to a disease gene. factors that influece diagnosis include:
a. %chance of recombination between marker locus and disease gene
b. carrier frequency of disease allele in subpopulation
c. penetrance of disease
d. A and C only
e. A, B and C
d
which of following is true of polymorphic marker loci in human DNA?
a. they are commonly found in exons
b. contribute to disease phenotypes
c. almost always change RNA
d. help identify disease genes
e. are a subset of RFLPs
d
which of following is NOT a polymorphic marker?
a. single nucleotide polymorphism
b. restriction fragment length polymorphism
c. CpG island
d. simple sequence repeat
e. none of above (they are all polymorphic markers)
C
how are RFLPs identified?
a. western blot
b. ELISA
c. southern blot
d. northern blot
e. karyotyping
c
small subset of polymorphic variation in human DNA sequence results in the destruction and creation of cleavage sites for restriction endo-nuclease is called a:
a. RFLP
b. SSR
c. SNP
d. USSR
e. IBM
a
sam is interested in having children with his wife, but wants to know the probability that he will develop and pass on a late onset autosomal dominant disease that is prevalent in his family. sam has a brother Dan, who has this disorder. sam's father, joe, also suffers from this disorder, but his mother, jill does not.

family had a genetic test done using polymorphic markers for the disease gene. below are the results of the test. numbers refer to the size of the bands on the gel
Joe: 5.3, 3.6
Jill: 5.3
Dan: 5.3, 3.6
Sam 5.3

this polymorphic marker is 10cM from the disease gene, and teh disease has a 50% penetrance rate. does sam have the disease gene? what chance does he have of developing this disorder with a positive test?
a. yes, sam has the disease gene. a positive test means that he has a 45% chance of developing the disease
b. yes, sam has the disease gene. a positive test means that he has a 40% chance of developing the disease
c. no, sam does not have the disease gene. positive test would havemeant that he has a 45% chance of developing the disease
d. no, sam does not have the disease gene. a positive test would have meant that he has a 40% chance of developing the disease
c
linkage analysis requires:
a. affected family members
b. unaffected family members
c. polymorphic markers
d. all of the above
e. none of the above
d