Deck 4: Genes and Genetic Diseases
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Deck 4: Genes and Genetic Diseases
1
What is the role of DNA polymerase in DNA replication?
A) This enzyme travels along the single DNA strand adding the correct nucleotide to the new strand.
B) This enzyme travels along the double strand of DNA to unwind the nucleotides of the double helix.
C) This enzyme holds the double strand apart while the correct nucleotides are added to the strand.
D) This enzyme transports the double strand of DNA from the nucleus to the cytoplasm for protein formation.
A) This enzyme travels along the single DNA strand adding the correct nucleotide to the new strand.
B) This enzyme travels along the double strand of DNA to unwind the nucleotides of the double helix.
C) This enzyme holds the double strand apart while the correct nucleotides are added to the strand.
D) This enzyme transports the double strand of DNA from the nucleus to the cytoplasm for protein formation.
This enzyme travels along the single DNA strand adding the correct nucleotide to the new strand.
2
What is transcription?
A) It is the process by which DNA polymerase binds to the promoter site on RNA.
B) It is the process by which RNA directs the synthesis of polypeptides for protein synthesis.
C) It is the process by which RNA is synthesized from a DNA template.
D) It is the process of a mutation of the amino acid sequence by a base pair substitution.
A) It is the process by which DNA polymerase binds to the promoter site on RNA.
B) It is the process by which RNA directs the synthesis of polypeptides for protein synthesis.
C) It is the process by which RNA is synthesized from a DNA template.
D) It is the process of a mutation of the amino acid sequence by a base pair substitution.
It is the process by which RNA is synthesized from a DNA template.
3
For which women would an amniocentesis be recommended?
A) For all pregnant women
B) For pregnant women who have a family history of certain genetic disorders
C) For pregnant women who are over 40 years of age
D) For pregnant women who had a late menarche
A) For all pregnant women
B) For pregnant women who have a family history of certain genetic disorders
C) For pregnant women who are over 40 years of age
D) For pregnant women who had a late menarche
For pregnant women who have a family history of certain genetic disorders
4
What is the term for an error in which homologous chromosomes fail to separate during meiosis or mitosis?
A) Aneuploidy
B) Nondisjunction
C) Polyploidy
D) Translocation
A) Aneuploidy
B) Nondisjunction
C) Polyploidy
D) Translocation
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5
Inserting bone marrow cells into an individual who produces abnormal erythrocytes is an example of what therapy?
A) Somatic cell therapy
B) Germ cell therapy
C) Genetic engineering therapy
D) Recombinant DNA therapy
A) Somatic cell therapy
B) Germ cell therapy
C) Genetic engineering therapy
D) Recombinant DNA therapy
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6
Frameshift mutation has no impact on amino acid sequence in protein synthesis.
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7
Deoxyribonucleic acid (DNA)directs the synthesis of all of the body's proteins.
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8
RNA polymerase is the most important protein in DNA replication.
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9
The key to accurate DNA replication is complementary base pairing.
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10
What is the purpose of a staining technique of chromosomes such as Giemsa?
A) To allow the mitotic process to be followed and monitored for variations
B) To allow the numbering of chromosomes and identification of variations
C) To identify new somatic cells formed through mitosis and cytokinesis
D) To distinguish the sex chromosome from the homologous chromosomes
A) To allow the mitotic process to be followed and monitored for variations
B) To allow the numbering of chromosomes and identification of variations
C) To identify new somatic cells formed through mitosis and cytokinesis
D) To distinguish the sex chromosome from the homologous chromosomes
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11
The sequence of bases in DNA is complementary to the bases in the messenger RNA (mRNA)with the exception of:
A) uracil instead of thymine.
B) adenine instead of cytosine.
C) cytosine instead of guanine.
D) guanine instead of uracil.
A) uracil instead of thymine.
B) adenine instead of cytosine.
C) cytosine instead of guanine.
D) guanine instead of uracil.
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12
Chromosome abnormalities are the leading cause of mental retardation and miscarriages.
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13
For which disease has the chromosomal location NOT been identified?
A) Huntington disease
B) Hemophilia A
C) Sickle cell disease
D) Cystic fibrosis
A) Huntington disease
B) Hemophilia A
C) Sickle cell disease
D) Cystic fibrosis
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14
DNA formation and protein synthesis occur in the cell nucleus.
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15
In most cases of recessive disease,both parents of affected individuals are heterozygous carriers.
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16
All living organisms use the same DNA codes to specify proteins.
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17
Males are affected more often by X-linked recessive genes than females.
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18
What datum from an amniocentesis indicates a neural tube defect?
A) An increase in chorionic protein
B) An increase in alpha-fetoprotein
C) An increase in amnionic protein
D) An increase in embryonic protein
A) An increase in chorionic protein
B) An increase in alpha-fetoprotein
C) An increase in amnionic protein
D) An increase in embryonic protein
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19
A child born with an autosomal dominant disease was most likely produced by the union of a normal parent with an affected heterozygous parent.
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20
Which clinical manifestations would be expected for a child who has complete trisomy of the twenty-first chromosome?
A) Widely spaced nipples,reduced carrying angle at the elbow,and sparse body hair
B) An IQ of 25 to 70,low nasal bridge,protruding tongue,and flat,low-set ears
C) High-pitched voice,tall stature,gynecomastia,and an IQ of 60 to 90
D) Circumoral cyanosis,edema of the feet,short stature,and mental slowness
A) Widely spaced nipples,reduced carrying angle at the elbow,and sparse body hair
B) An IQ of 25 to 70,low nasal bridge,protruding tongue,and flat,low-set ears
C) High-pitched voice,tall stature,gynecomastia,and an IQ of 60 to 90
D) Circumoral cyanosis,edema of the feet,short stature,and mental slowness
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21
A boy,9 years of age,is admitted to the pediatric ward with hemophiliaA.He inherited this condition through a ___________ trait
A) sex-linked dominant
B) sex-influenced
C) sex-linked
D) sex-linked recessive
A) sex-linked dominant
B) sex-influenced
C) sex-linked
D) sex-linked recessive
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22
What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present? Her features include a short stature,widely spaced nipples,reduced carrying angle at the elbow and sparse body hair.
A) Down syndrome
B) Cri du chat syndrome
C) Turner syndrome
D) Klinefelter syndrome
A) Down syndrome
B) Cri du chat syndrome
C) Turner syndrome
D) Klinefelter syndrome
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23
MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Duchenne muscular dystrophy
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Duchenne muscular dystrophy
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
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24
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
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25
What is the second most commonly recognized genetic cause of mental retardation?
A) Down syndrome
B) Fragile X syndrome
C) Klinefelter syndrome
D) Turner syndrome
A) Down syndrome
B) Fragile X syndrome
C) Klinefelter syndrome
D) Turner syndrome
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26
People who have neurofibromatosis have a varying degree of the condition because of the genetic principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
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27
What is the blood type of a person who is heterozygous,having A and B alleles as codominant?
A) Type A
B) Type B
C) Type O
D) Type AB
A) Type A
B) Type B
C) Type O
D) Type AB
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28
Which of the following disorders has a mode of inheritance similar to hemophilia A?
A) Cri du chat syndrome
B) Duchenne muscular dystrophy (DMD)
C) Polycystic kidney
D) Down syndrome
A) Cri du chat syndrome
B) Duchenne muscular dystrophy (DMD)
C) Polycystic kidney
D) Down syndrome
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29
Consanguinity refers to the mating of:
A) two unrelated individuals.
B) persons when one has an autosomal dominant disorder.
C) persons having a common parent.
D) persons when one has a chromosomal abnormality.
A) two unrelated individuals.
B) persons when one has an autosomal dominant disorder.
C) persons having a common parent.
D) persons when one has a chromosomal abnormality.
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30
What is the most common cause of Down syndrome?
A) Paternal nondisjunction
B) Maternal translocations
C) Maternal nondisjunction
D) Paternal translocation
A) Paternal nondisjunction
B) Maternal translocations
C) Maternal nondisjunction
D) Paternal translocation
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31
If a boy who has hemophilia A inherited it from his:
A) father.
B) mother.
C) mother and father.
A) father.
B) mother.
C) mother and father.
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32
If a boy inherits a disease that is autosomal recessive,he inherited it from his:
A) father.
B) mother.
C) father and mother.
A) father.
B) mother.
C) father and mother.
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33
A genetically normal male is always _____ for genes on the X chromosome.
A) homozygous
B) heterozygous
C) hemizygous
D) ambizygous
A) homozygous
B) heterozygous
C) hemizygous
D) ambizygous
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34
A couple has two children with a genetic disease.What is the probability that the next child will have the same genetic disease?
A) One sixth
B) One fourth
C) One third
D) One half
A) One sixth
B) One fourth
C) One third
D) One half
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35
What is the chromosomal variation that causes Klinefelter syndrome?
A) Nondisjunction of the X chromosome in the father
B) Translocation of the X chromosome in the mother
C) Nondisjunction of X chromosomes in the mother
D) Translocation of the Y chromosome in the father
A) Nondisjunction of the X chromosome in the father
B) Translocation of the X chromosome in the mother
C) Nondisjunction of X chromosomes in the mother
D) Translocation of the Y chromosome in the father
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36
Which is an important criterion for discerning autosomal recessive inheritance?
A) Consanuinity is often present.
B) Females are affected more than males.
C) The disease is seen in the parents and in the siblings.
D) On average,one half of the offspring of the carrier will be affected.
A) Consanuinity is often present.
B) Females are affected more than males.
C) The disease is seen in the parents and in the siblings.
D) On average,one half of the offspring of the carrier will be affected.
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37
What is the most clinically useful technique for prenatal diagnosis of chromosomal abnormalities at 2 months' gestation?
A) Gene mapping
B) Linkage analysis
C) Amniocentesis
D) Chorionic villi biopsy
A) Gene mapping
B) Linkage analysis
C) Amniocentesis
D) Chorionic villi biopsy
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38
Which genetic diseases have been linked to a mutation of the tumor suppressor gene?
A) Huntington disease and hemochromatosis
B) Retinoblastoma and type 1 neurofibromatosis
C) Familial breast cancer and polycystic kidney disease
D) Hemophilia A and leukemia
A) Huntington disease and hemochromatosis
B) Retinoblastoma and type 1 neurofibromatosis
C) Familial breast cancer and polycystic kidney disease
D) Hemophilia A and leukemia
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39
A person with XXXY has the genetic disorder called __________ syndrome.
A) Turner
B) Klinefelter
C) Down
D) Fragile X
A) Turner
B) Klinefelter
C) Down
D) Fragile X
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40
What is the genotype for the person who has sickle cell trait?
A) DD
B) Dd
C) dd
A) DD
B) Dd
C) dd
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41
Match the disease with its chromosomal abnormality.
An additional chromosome joining the normal homologous pair
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
An additional chromosome joining the normal homologous pair
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
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42
Match the disease with its chromosomal abnormality.
Single X chromosome with no homologous X or Y chromosome
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
Single X chromosome with no homologous X or Y chromosome
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
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43
Match the disease with its chromosomal abnormality.
Two X chromosomes and one Y chromosome
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
Two X chromosomes and one Y chromosome
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
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44
Match the disease with its chromosomal abnormality.
Zygote has one chromosome with the normal complement of genes and one with a missing gene
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
Zygote has one chromosome with the normal complement of genes and one with a missing gene
A)Down Syndrome
B)Fragile X syndrome
C)Klinefelter syndrome
D)Turner syndrome
E)Cri du chat
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45
MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Phenylketonuria (PKU)
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Phenylketonuria (PKU)
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
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46
MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Cystic fibrosis
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Cystic fibrosis
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
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47
MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Hemophilia
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Hemophilia
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
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48
MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Sickle cell disease
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Sickle cell disease
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
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49
MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Huntington disease
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Huntington disease
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
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50
MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Achondroplasia
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
Achondroplasia
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)X-linked recessive
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