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85 Cards in this Set
- Front
- Back
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In 1999 what chromosome was completely sequenced?
-22 -21 -15 -11 |
22
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_ is cell 1 division.
-mitosis -meiosis |
mitosis
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_ is the formation of gamates which relates to daughter cells after 2 divisions.
-mitosis -meiosis |
meiosis
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Within DNA-RNA sequencing....Cytosine to __ in DNA.
-thymine -guanine -uricil |
guanine
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Within DNA-RNA sequencing....Adenosine to __ in DNA.
-cytosine -thymine -guanine -uricil |
thymine
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__ to guanine in RNA.
-cytosine -adenosine -uricil |
cytosine
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__ to Uricil in RNA.
-adenosine -guanine -cytosine |
adenosine
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sequencing of 3 bases is a __.
-codon -anti-codon |
codon
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__ polymerase is responsible for coding messenger RNA.
-DNA -RNA |
RNA
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the codon of AAA on the template DNA provides a messenger RNA codon of ___.
-TTT -UUU |
UUU
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how many pairs of chromosomes are there?
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23
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genes are composed of exons which are responsible for __.
-coding sequence -non-coding sequence |
coding sequence
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genes are separated by __, non coding sequence.
exons introns protons |
introns
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__ are the only sex that have chromosomes within the mitochondria.
-male -female |
female
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t/f
most genes consist of exons and introns. |
true
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during __ each chromosome is replicated.
-mitosis -meiosis |
mitosis
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__ is usually found around the middle of chromosomes; that are involved in cell division.
-telomeres -centromeres -recombination |
centromeres
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In __, each chromosome is replicated in the initial phase, resulting in 4 copies.
-mitosis -meiosis |
meiosis
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_ is a unit of heredity that controls the expression of a particular trait.
-gene -allele -locus |
gene
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_ is a particular form of a gene.
-gene -allele -locus |
allele
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_ is the position of a gene on a chromosome.
-allele -locus -gene |
locus
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the short arm of a chromosome is called the p (petite) arm, and the long arm is called the ___ arm.
-l (long) -q (queue) |
q-queue
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mitochondrial DNA is only inherited from the __.
-father -mother |
mother
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who developed the patterns of inheritance ?
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mendelian
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with autosomal dominant disorders, you have a _% chance of having an affected disorder.
-25 -50 -75 -100 |
50% chance of having an affected child, with a 25% chance of having on unaffected son, and 25% chance of having an unaffected daughter.
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47, XXY is also known as __.
-trisomy 21/down's syndrome -klinefelter syndrome -trisomy 18/edward syndrome -trisomy 13/patau syndrome |
klinefelter's syndrome
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47, XXX is AKA:
-turner's syndrome -down's syndrome -alport's syndrome -triple X syndrome |
triple X syndrome
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45X is AKA ?
-turner's syndrome -alport's syndrome -klinefelter's syndrome |
turner's syndrome
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which of the following is a female only disorder?
-45x-Turner's -47, XXY Klinefelter's -Trisomy 21-Down's syndrome |
45X-Turner's syndrome
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Which of the following is a male only disorder?
-Klinefelter's 47, XXY -Hemophilia -Triple XXX, 47,XXX -47, XYY |
47, XXY
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_ is the region of repetitive DNA at the end of chromosomes which protect them from destruction or becoming attached to each other.
-centromeres -telomeres -telophase |
telomeres
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_ is usually found around the middle of chromosomes; they are involved n cell division and gene expression.
-centromeres -telomeres -telophase -mitosis |
centromeres
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__ is an alteration in the normal sequence of DNA within a gene; either inherited or sporadic.
-transposition -mutation -r banding |
mutation
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mitochondrial DNA is only inherited from the __.
-mother -father -mailman |
mother
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what are the four pattern's of inheritance?
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Autosomal dominant
autosomal recessive x-linked dominant x-linked recessive |
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__ alters encoded amino acids such as in sickle cell.
-nonsense mutation -missense mutation -frameshift |
missense mutation
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__ creates a premature stop codon.
-nonsense mutation -missense mutation -frameshift -insertion |
nonsense mutation
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_ is the insertion or deletion of extra bases.
-nonsense mutation -missense mutation -frameshift -insertion |
frameshift
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karyotype, southern blot, single nucleotide polymorphism, and fluorescent in situ are all forms of _ testing.
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genetic
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Down's syndrome is aka:
trisomy 21 trisomy 18 trisomy 13 |
trisomy 21
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Patau syndrome is aka:
trisomy 21 trisomy 18 trisomy 13 |
trisomy 13
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Edward Syndrome is aka?
trisomy 21 trisomy 18 trisomy 13 |
trisomy 18
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47 XXY is aka?
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klinefelter's syndrome
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most sex linked disorders are usually inherited as X-linked _.
-recessive -dominant |
recessive
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With x linked dominant, the mother exhibits symptoms and the _ offspring are usually not viable.
-male -female -hermaphrodite |
male
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with x linked recessive _ are more affected than _.
male > female female > male |
male > female
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how is x linked recessive disorders transferred? (2)
carrier mother to son carrier mother to daughter affected father to son affected father to daughter |
carrier mother to son and affected father to son
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x linked disorders are never transmitted _ to _
female to female male to male |
male to male
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_ is a series of events occurring after a precipitating event.
-association -series -deformation -formation |
series
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_ is fusion of long arms of 2 acrocentric chromosomes.
-robertsonian translocation -reciprocal translation -inversion |
robertsonian translocation
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_ is a segment of chromosome is inverted end to end.
-deformation -disruption -malformation -inversion |
inversion
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_ is the exchange of material between nonhomologous chromosomes. that can occur between any chromosomes; can be balanced or unbalanced.
-robertsonian translocation -reciprocal translation -inversion -deformation |
reciprocal translation
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_ is the destruction of fetal part initially correctly formed.
-deformation -disruption -sequence |
disruption
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_ implies an abnormal physical influence in intra-uterine environment.
-disruption -deformation -malformation -association |
deformation
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_ is the primary structural defect occurring during development. it can be d/t a single gene or chromosomal defect, teratogen exposure; often assoc. with learning disabilities.
-malformation -deformation -disruption -sequence |
malformation
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An original DNA code for an amino acid sequence has an individual replacement of a single nucleotide which results in an incorrect amino acid being inserted, which may result in a malfunctioning protein.
-missense mutation -nonsense mutation -insertion mutation -deletion mutation |
missense mutation
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An original DNA code for an amino acid sequence, has a replacement of a single nucleotide that results in an incorrect amino acid in the chain that causes shortening of the protein. This is a ?
-missense mutation -nonsense mutation -insertion mutation -deletion mutation |
nonsense mutation
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An original DNA code for an amino acid sequence with an insertion of a single nucleotide that results in an incorrect amino acid sequence, which may produce a malfunctioning protein, this is a ?
-missense mutation -nonsense mutation -insertion mutation -deletion mutation |
insertion mutation
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An original DNA code for an amino acid sequence has a deletion of a single nucleotide that results in an incorrect amino acid sequence, which may produce a malfunctioning protein, this is a ?.
-missense mutation -nonsense mutation -insertion mutation -deletion mutation |
deletion mutation
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If _ occurs, there is a normal segregation of chromosomes.
-disjunction -non disjunction -monosomy |
disjunction
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If _ takes place, the gamate with an additional chromosome after fertilization leads to trisomy.
-disjunction -non disjunction -frameshift |
non disjunction
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In this disease you will see Heinz bodies.
-Hemophilia -marfan's syndrome -G6PD deficiency -CF |
G6PD deficiency
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Marfan's Syndrome is a gene mutation of Chromo. 15, this is an _ disorder.
-autosomal dominant -autosomal recessive -x linked recessive -x linked dominant |
autosomal dominant
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hemophilia in which only males are affected, is a _ disorder.
-autosomal dominant -autosomal recessive -x linked recessive -x linked dominant |
x linked recessive
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Alport's syndrome, which affects both males and females is a _ disorder.
-autosomal dominant -autosomal recessive -x linked recessive -x linked dominant |
x linked dominant
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PKU, which is an inborn error of metabolism is a _ disorder.
-autosomal dominant -autosomal recessive -x linked recessive -x linked dominant |
autosomal recessive
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hereditary spherocytosis, which has a high RBC MCV, is a ?
-autosomal dominant -autosomal recessive -x linked recessive -x linked dominant |
autosomal dominant
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Gleevac, Herceptin, and Remicade, are __ that treat leukemia.
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monoclonal antibodies
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_ is having two identical alleles at a genetic locus.
-homozygous -heterozygous -disjunction -non disjunction |
homozygous
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_ is having two different allele's at a genetic locus; usually one normal and one faulty.
-homozygous -heterozygous -disjunction -non disjunction |
heterozygous
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_ the separation of the replicated copies of chromosomes into two daughter cells during the second stage of meiosis.
-homozygous -heterozygous -disjunction -non disjunction |
disjunction
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t/f
in x linked recessive there is no male to male transmission is seen on the family tree. All daughter's of affected males will be carriers. All sons of an affected male will be unaffected. |
true
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_ creates premature stop codon.
-nonsense mutation -missense mutation -frameshift mutation -insertion mutation |
nonsense mutation
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_ insertion or deletion of extra bases.
-nonsense mutation -missense mutation -frameshift mutation -insertion mutation |
frameshift mutation
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_ alters encoded amino acids.
-nonsense mutation -missense mutation -frameshift mutation -insertion mutation |
missense mutation
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Down's syndrome is ....
trisomy 13 trisomy 18 trisomy 21 |
trisomy 21
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_ is incompatible with life.
trisomy 13 monosomy trisomy 18 |
monosomy
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edward syndrome is ?
trisomy 13 trisomy 18 trisomy 21 monosomy |
trisomy 18
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patau syndrome is ?
trisomy 13 trisomy 18 trisomy 21 monosomy |
trisomy 13
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sickle cell disease is caused by a _ mutation that leads to an amino acid substitution in the betaglobulin chain which changes the molecular structure of hemoglobin.
-missense mutation -nonmisense mutation -frameshift mutation |
missense mutation
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which is most common?
-alpha thalassemia -beta thalassemia |
alpha thallasemia
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Down's syndrome is a result of _.
-disjunction -non disjunction -robertsonian translocation -reciprocal translocation |
non disjunction
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t/f
with X linked dominant disorder, the mother exhibits the symptoms and the female offspring usually are not viable. |
false; the male offspring usually not viable.
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t/f
most sex linked disorders are inherited as x linked recessive. |
true
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hemophilia, G6PD, and Duchenne muscular dystrophies are _.
x linked recessive x linked dominant |
x linked recessive
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