genetics2

86問 • 2年前

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問題一覧

A person with two or more different cell lines originating from a single zygote is called a:

mosaic

A person has 3 barr bodies, what is true?

Has 4 chromosome X

The effect of Barr body formation in mammals is that_______

Females are mosaics for heterozygous X-linked genes

What does it mean normal karyotype?

Species/individual specific number of chromosome

Which of the following is the description of an individual with cri-du-chat syndrome?

46, XY, 5p-

Which of the following represents the best description for the movement of a fragment of the short arm of chromosome 6 to the long arm of chromosome 8 and concurrently, moving the fragment that should have been on the long arm of chromosome 8 to the short arm of chromosome 6?

Reciprocal translocation

How are Klinefelter and Turner syndromes related?

The result of non-disjunction, Can be detected by karyotyping, Involve abnormal number of X or Y chromosomes, Have 44 autosomes

Some mutations have been found that are expressed differently depending on the set of the parent the gene is passed through. This is called _______

imprinting

An interstitial deletion of paternal chromosome subregion 15q11-q13 results Prader- Willi syndrome (PWS). The deletion of the same subregion of maternal chromosome results another disease Angelman syndrome. The reason for this is:

Genomic imprinting

How many tetrads are found in meiotic prophase in an organism with a diploid number of 12?

A human genetic defect that is caused by non-disjunction of sex chromosome is

Turner

Robertsonian translocations usually involve metacentric chromosomes.

False

A 47, XXY may be caused by the non disjunction of

meiosis 2 in either parent

The effect of Barr body formation is that

females are mosaics for heterozygous X linked genes

What does it mean normal karyotype?

species specific number of chromosome

In X inactivation all of X genes are inactivated

false

Cri du chat syndrome (),XY,()

46 5p

How are Klinefelter and Turner related

the result of non disjunction, can be detected by karyotyping, involve abnormal number of X or Y, have 44autosomes

associated with imprinting failure for 15

pws

paternal disomy for 15

angelman

maternal disomy

pws

uniparental dysomy

angelman

X inactivation

IncRNA

The substitution of one nucleotide for another is known

point

Which one of the following statements regarding genetic polymorphism is correct?

Genetic polymorphism are variations in DNA sequence that commonly occur

207.Which is the modern definition of the genetic polymorphism?

DNA variation with a known population frequency

A point mutation that changes a codon specifying an amino acid into a stop codon is called a:

Nonsense mutation

Which mutations would cause a frameshift and this likely be the most detrimental?

insertion of 1 base pair

33. Which statement is NOT true about X and Y chromosomes?

Most of X and Y chromosomes located genes are related to gonadal and genital development.

Which statement if FALSE for inheritance?

Each chromosome out of the 23 inherited in an unchanged form either from the grandmother or from the grandfather

Which cells are haploid in the process of spermatogenesis?

Secondary spermatocytes, spermatids

A human female is born with ________ cells in the primordial follicles of her ovaries

primary oocyte

Why would you predict that half of the human babies will be males and half will be females?

Because the segregation of the X and Y chromosome during male meiosis

Which is true in connection with the spermatogenesis?

Meiosisis arrested at the first meiotic propohase

Which is true in connection with the ovogenesis? (oogenesis)

DNA replication happens before meiosis I

Which of the following is NOT true about mtDNA?

It has many DNA repair mechanisms

A cystic fibrosis mutation screen of an affected child reveals that he carries the Delta F508 mutation on one chromosome and the G551D mutation on the other chromosome. Which of the following terms best describes his situation?

Complex heterozygosity (pete)

Myotonic dystrophy may show increasing severity and earlier age of onset in successive generations. This phenomenon is known as:

Anticipation

In people with sickle cell disease the red blood cells breakdown, clump, and clog the blood vessels. The broken cells accumulate in the spleen. Among other things this leads to physical weakness, heart failure, pain, brain damage and spleen damage. Affected individuals become paralyzed and can develop rheumatism, pneumonia and other diseases and kidney failure. This is an example of:

Thepleiotropiceffectsofthesicklecellallele

Pleiotropy refers to:

The control of more than one trait by a single allele

Polydactyly (extra finger) is a dominant trait in humans. A person who has polydactyly has parents who do not have polydactyly, and a maternal grandfather who does have polydactyly. What is the most likely explanation for this?

Incomplete penetrance

Duchenne muscular dystrophy and Becker muscular dystrophy have different phenotypes, but they result from mutations in the same gene. This is an example of:

Allelic heterogeneity

What is it: The same genetic variations or genotype combinations simultaneously affect more than one phenotype trait?

Pleiotropy

Hemophilia A and hemophilia B have nearly identical phentoypes, but they result from a mutation in different genes on the X chromosome. This is an example of:

Locus heterogeneity

Which of the following defines the pseudoautosomal region?

Homologous regions of the X and Y chromosomes

How can archeologist obtain enough DNA from unearthed human bones?

Usepolymerasechainreaction

Huntington’s disease is an example of a genetic disorder caused by

A late acting dominant allele

What is complex heterozygocy？

The mutations are on 2 different sites on the 2 of the same gene.

Which one of these is caused by repeats of base triplets rather than a whole chromosome?

Fragile-Xsyndrome

In a group of 100 women with the genotype for widow’s peak in the hairline, only 87 actually exhibited the trait. This is an example of:

Reduced penetrance

different allelic combinations lead to similar phenotypes?

Allelic heterogeneity

Marfan syndrome, a dominant single-gene defect, is characterized by lens dislocation, long limbs, spndly fingers, a caved-in chest and a weakened aorta. This is an example of a(n):______ trait.

Pleiotropic

Taq polymerase:

A heat stable enzyme, used in PCR

What is the function of Anaphase promoting complex?

Ubiquitinligase

In vitro DNA synthesis requires the activity of _________

Taq polymerase

Huntington disease is a deadly dominant disease. How can this allele be transmitted from one generation to another if one copy is enough to make the carrier die?

Because symptoms appear between 30 and 50 years old and death occurs several years later

Which of the following statements regarding mutations causing Huntington Disease is FALSE?

The trinucleotide repeats are located within the 3’ untranslated region of the Huntingtin gene.

Which technique would be most suitable for testing the hypothesis: Treating an estrogen-responsive cell line with estrogen gives a five-fold increase in the level of a specific mRNA with a length of 1800 nucleotides

Northern blotting

PCR is used to:

Copy DNA sequences

Both sickle cell anemia and hemophilia

Are monogenic

A grandfather and grandson both have ectrodactyly, but the intervening father has normal hands by X-ray. Which of the following terms would most appropriately apply to the trait in this family

Reduced penetrance

All of the following statements regarding genetic mutations are true EXCEPT

Mutations underlying most genetic diseases are known

Huntington chorea may show increasing severity and earlier age of onset in successive generations

Anticipation

What is the proble, leading to anaphase bridge formation?

failure of proper DNA synthesis

What kind of chromosomal aberration can cause CML or ALL?

reciprocal translocation of chromosome 9 and 22

Reciprocal translocation

Genes of which of the following are coded on the Y chromosome:

Testis development

What is the approximate percentage (%) of human DNA that codes for proteins?

chromosome number of polar body after meiosis2

chromosome number of turner syndrome

chromosome number of healthy person

chromosome number of Edwards syndrome

chromosome number of triploid zygote

Which type of atypical mitosis can lead to polythene chromosomes and polyploid cells?

endomitosis

Southern blotting is:

Non-radioactive DNA restriction fragments, separated by electrophoresis and blotted onto a membrane filter, is tested for hybridization with radioactive gene-specific probe of either RNA or DNA.

Archaeologists unearthed a human skull with a small dried fragment of the scalp still attached. They extracted a tiny amount of DNA from the scalp tissue. How could they obtain sufficient DNA for an analysis of the ancient human’s genes?

Use polymerase chain reaction

A woman carries a Robertsonka translocation with 45, XX rob (21,21). What can be the possible consequences of her pregnancy?

spontaneous anotrion, or child with Down

movement of a fragment of the long arm of chromosome 13 centromer region of chromosome 14?

robertonian translocation

A point mutation that changes a codon specifying an amino acid into a stop codon is called a..

Nonsense mutation

What is the mode of inheritance of color blindness?

X-linked recessive trait

Which of the following is the molecular cause of xeroderma pigmentosum?

Mutations in a gene that repairs the damage to DNA caused by ultraviolet light

In a healthy two years old boy, what phase the gametogenesis can be found?

spermatogonium

Which pairing is correct?

Pachytene – crossing over

Not true about human genome

mutation rates are higher during female meiosis

Which region highly variable?

STR

Which one of these is caused by repeats of base triplets rather than a whole chromosome

Fragile-Xsyndrome

Week3-4

Week3-4

Weekly2

Weekly2

Weekly2-2

Weekly2-2

Weekly2-3

Weekly2-3

Weekly3

Weekly3

Weekly3-2

Weekly3-2

Weekly3-3

Weekly3-3

Weekly3-4 Viscerosensory

n · 34問 · 2年前

Weekly3-4 Viscerosensory

34問 • 2年前

Week6-skeletal muscle

n · 10問 · 2年前

Week6-skeletal muscle

Week6- Heart

Week6- Heart

Weekly4-1

Weekly4-1

Week9

Week9

⭐️Parameters

⭐️Parameters

DNA

DNA

RNA

RNA

Week11

Week11

Week12

Week12

Week13

Week13

week1

week1

genetics quiz

genetics quiz

genetics mcq

genetics mcq

Week2

Week2

Immunology final

Immunology final

Week3

Week3

Week3-4 Thyroid

Week3-4 Thyroid

general

general

general2

general2

Week4-body

Week4-body

Week4-Caicium, bone

Week4-Caicium, bone

Week5,6-sexual

Week5,6-sexual

immunology

immunology

Internal Metabolism

Internal Metabolism

cell cycle

cell cycle

mid1?

mid1?

mid2

mid2

Week8

Week8

sensory

sensory

nerve

nerve

genetic3

genetic3

gene4

gene4

Week12

Week12

Week13

Week13

week11

week11

Midterm pp

Midterm pp

Midterm1-2

Midterm1-2

Mid2-1

Mid2-1

Minimum-mycology

Minimum-mycology

Minimum-virology

Minimum-virology

Minimum-general

Minimum-general

Minimum-systemic

Minimum-systemic

Mid2-2

Mid2-2

Mod2-3

Mod2-3

Minimum-systemic2

Minimum-systemic2

Minimum-parasitology

Minimum-parasitology

問題一覧

A person with two or more different cell lines originating from a single zygote is called a:

mosaic

A person has 3 barr bodies, what is true?

Has 4 chromosome X

The effect of Barr body formation in mammals is that_______

Females are mosaics for heterozygous X-linked genes

What does it mean normal karyotype?

Species/individual specific number of chromosome

Which of the following is the description of an individual with cri-du-chat syndrome?

46, XY, 5p-

Reciprocal translocation

How are Klinefelter and Turner syndromes related?

The result of non-disjunction, Can be detected by karyotyping, Involve abnormal number of X or Y chromosomes, Have 44 autosomes

Some mutations have been found that are expressed differently depending on the set of the parent the gene is passed through. This is called _______

imprinting

Genomic imprinting

How many tetrads are found in meiotic prophase in an organism with a diploid number of 12?

A human genetic defect that is caused by non-disjunction of sex chromosome is

Turner

Robertsonian translocations usually involve metacentric chromosomes.

False

A 47, XXY may be caused by the non disjunction of

meiosis 2 in either parent

The effect of Barr body formation is that

females are mosaics for heterozygous X linked genes

What does it mean normal karyotype?

species specific number of chromosome

In X inactivation all of X genes are inactivated

false

Cri du chat syndrome (),XY,()

46 5p

How are Klinefelter and Turner related

the result of non disjunction, can be detected by karyotyping, involve abnormal number of X or Y, have 44autosomes

associated with imprinting failure for 15

pws

paternal disomy for 15

angelman

maternal disomy

pws

uniparental dysomy

angelman

X inactivation

IncRNA

The substitution of one nucleotide for another is known

point

Which one of the following statements regarding genetic polymorphism is correct?

Genetic polymorphism are variations in DNA sequence that commonly occur

207.Which is the modern definition of the genetic polymorphism?

DNA variation with a known population frequency

A point mutation that changes a codon specifying an amino acid into a stop codon is called a:

Nonsense mutation

Which mutations would cause a frameshift and this likely be the most detrimental?

insertion of 1 base pair

33. Which statement is NOT true about X and Y chromosomes?

Most of X and Y chromosomes located genes are related to gonadal and genital development.

Which statement if FALSE for inheritance?

Each chromosome out of the 23 inherited in an unchanged form either from the grandmother or from the grandfather

Which cells are haploid in the process of spermatogenesis?

Secondary spermatocytes, spermatids

A human female is born with ________ cells in the primordial follicles of her ovaries

primary oocyte

Why would you predict that half of the human babies will be males and half will be females?

Because the segregation of the X and Y chromosome during male meiosis

Which is true in connection with the spermatogenesis?

Meiosisis arrested at the first meiotic propohase

Which is true in connection with the ovogenesis? (oogenesis)

DNA replication happens before meiosis I

Which of the following is NOT true about mtDNA?

It has many DNA repair mechanisms

Complex heterozygosity (pete)

Myotonic dystrophy may show increasing severity and earlier age of onset in successive generations. This phenomenon is known as:

Anticipation

Thepleiotropiceffectsofthesicklecellallele

Pleiotropy refers to:

The control of more than one trait by a single allele

Incomplete penetrance

Duchenne muscular dystrophy and Becker muscular dystrophy have different phenotypes, but they result from mutations in the same gene. This is an example of:

Allelic heterogeneity

What is it: The same genetic variations or genotype combinations simultaneously affect more than one phenotype trait?

Pleiotropy

Hemophilia A and hemophilia B have nearly identical phentoypes, but they result from a mutation in different genes on the X chromosome. This is an example of:

Locus heterogeneity

Which of the following defines the pseudoautosomal region?

Homologous regions of the X and Y chromosomes

How can archeologist obtain enough DNA from unearthed human bones?

Usepolymerasechainreaction

Huntington’s disease is an example of a genetic disorder caused by

A late acting dominant allele

What is complex heterozygocy？

The mutations are on 2 different sites on the 2 of the same gene.

Which one of these is caused by repeats of base triplets rather than a whole chromosome?

Fragile-Xsyndrome

In a group of 100 women with the genotype for widow’s peak in the hairline, only 87 actually exhibited the trait. This is an example of:

Reduced penetrance

different allelic combinations lead to similar phenotypes?

Allelic heterogeneity

Marfan syndrome, a dominant single-gene defect, is characterized by lens dislocation, long limbs, spndly fingers, a caved-in chest and a weakened aorta. This is an example of a(n):______ trait.

Pleiotropic

Taq polymerase:

A heat stable enzyme, used in PCR

What is the function of Anaphase promoting complex?

Ubiquitinligase

In vitro DNA synthesis requires the activity of _________

Taq polymerase

Huntington disease is a deadly dominant disease. How can this allele be transmitted from one generation to another if one copy is enough to make the carrier die?

Because symptoms appear between 30 and 50 years old and death occurs several years later

Which of the following statements regarding mutations causing Huntington Disease is FALSE?

The trinucleotide repeats are located within the 3’ untranslated region of the Huntingtin gene.

Northern blotting

PCR is used to:

Copy DNA sequences

Both sickle cell anemia and hemophilia

Are monogenic

A grandfather and grandson both have ectrodactyly, but the intervening father has normal hands by X-ray. Which of the following terms would most appropriately apply to the trait in this family

Reduced penetrance

All of the following statements regarding genetic mutations are true EXCEPT

Mutations underlying most genetic diseases are known

Huntington chorea may show increasing severity and earlier age of onset in successive generations

Anticipation

What is the proble, leading to anaphase bridge formation?

failure of proper DNA synthesis

What kind of chromosomal aberration can cause CML or ALL?

reciprocal translocation of chromosome 9 and 22

Reciprocal translocation

Genes of which of the following are coded on the Y chromosome:

Testis development

What is the approximate percentage (%) of human DNA that codes for proteins?

chromosome number of polar body after meiosis2

chromosome number of turner syndrome

chromosome number of healthy person

chromosome number of Edwards syndrome

chromosome number of triploid zygote

Which type of atypical mitosis can lead to polythene chromosomes and polyploid cells?

endomitosis

Southern blotting is:

Non-radioactive DNA restriction fragments, separated by electrophoresis and blotted onto a membrane filter, is tested for hybridization with radioactive gene-specific probe of either RNA or DNA.

Use polymerase chain reaction

A woman carries a Robertsonka translocation with 45, XX rob (21,21). What can be the possible consequences of her pregnancy?

spontaneous anotrion, or child with Down

movement of a fragment of the long arm of chromosome 13 centromer region of chromosome 14?

robertonian translocation

A point mutation that changes a codon specifying an amino acid into a stop codon is called a..

Nonsense mutation

What is the mode of inheritance of color blindness?

X-linked recessive trait

Which of the following is the molecular cause of xeroderma pigmentosum?

Mutations in a gene that repairs the damage to DNA caused by ultraviolet light

In a healthy two years old boy, what phase the gametogenesis can be found?

spermatogonium

Which pairing is correct?

Pachytene – crossing over

Not true about human genome

mutation rates are higher during female meiosis

Which region highly variable?

STR

Which one of these is caused by repeats of base triplets rather than a whole chromosome

Fragile-Xsyndrome