genetic3

85問 • 1年前

通報

問題一覧

What is it: Environmental factors lead to the same clinical phenotype as do the genetic factors?

phenocopy

What step is involved in the block of polyspermy?

Ca ion increase in secondary oocyte

The role of acrosome during fertilization process is to

Contain enzymes that help a sperm head digest its way into an egg

Polymorphism refers to:

The presence of several distinct forms of DNA sequence within populations

Which statement is FALSE? DNA methylation plays a role in..

The stability of rRNA

Antisense RNA is

complementary with an RNA molecule

Accetylation

chromatin decondensation and high levels of gene expression

A genetic defect in humans results in the absence of sweat glands in the skin. Some men have this defect all over their bodies, but in women it is usually expressed in a peculiar way. A woman with this defect typically has small patches of skin with sweat glands and other patches where sweat glands are lacking. This pattern suggests the phenotypic effect of:

chromosome inactivation

The genetic regulatory mechanismm employed to compensate for the discrepancy between the presence of 2 X chromosomes in one sex but only 1 X chromosome in the other sex

dosage compensation

Genomic imprinting

the parental origin specific marks of the genome

A mechanism in which genes have different effects depending on whether they are transmitted to the offspring through the egg or sperm

genetic imprinting

Which technique made it possible to characterize the chromosome territories

M-FISH

Which method should be used to determine the risk of a child for Huntingtons

VNTR based southern blot

203.Which gene play an important role in Alzheimer disease?

APOE

What is the mode of inheritance of color blindness?

X-linked recessive trait

From whom did a male with red-green color blindness inherit the defective allele?

Only from his mother

CFTR heterozygosity is protective against

cholera

The most common. CF mutation consist of

deletion

Normal couple have 4 childeren, only 1 affected CF, parents genotypes

both are heterozygous

205.Which disease’s symptoms can be summarized as CATCH-22?

DiGeorge syndrome

47, XY+21

aneuplody, down

Edward syndrome is diagnosed by

karyotyping

familial hypercholoseterolaemia is caused by

LDL receptor

G6PD deficiency

Which gene defect causes hemophilia

Factor nine

You analyze sequence for part of Factor8 gene in a male patient with hemophilia A, and find a missense base change substituting a Leunfor Ile at codon 904. Analysis of the Factor 8 gene of another unrelated individual identifies the exact same base change. True or False; This second individual must also have hemophilia A

false

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

Locus heterogeneity

CCr5 deficiency is protective against

HIV1

Shows anticipation in paternal transmission

Huntington

Not true fro Huntington disease

penetrance is always complete

Klinefelter and Turner

have 44 autosomes, result from non disjunction, involve an unusual number of sex chromosomes, can be identified by karyotyping

200.Which of the following may increase the risk of the development of deep vein thrombosis in case of oral contraceptives, long physical inactivity (air travel) or pregnancy?

Leyden mutation

Male pattern baldness is a

sex influenced trait

Marfan syndrome is caused by mutations

fibrillin

Marfan syndrome is characterized by lens dislocation, long limbs, spindly fingers… This is an example of

pleiotropic

As a doctor, what would you recommend to a pregnant mother to prevent baby with neural tube defects and considering that the mother has MTHFR 677TT genotype?

Supplement methylfolate

Not true for B thalassemia

a missense in codon6 of the b globing gene, substituting valine for glu.

Not benefit a patient with b thalassemia major

increasing a globin production

Not show X linked

Tay sachs disease

Mutation in sickle cell disease consist of

point mutation

If you examine a pedigree showing the transmission pattern of a mitochondrial gene inheritance, which of the following statements would be FALSE?

Only females will express the trait

Ana’s dad developed in his thirties a disease caused by genes carried by his mitochondria. Ana is 20 years-old and she is worried that she may have inherited the same disease. What can you tell Ana

she should not worry because mitochondria are inherited maternally

False about genetic code

nucleic acids are coded by nucleotide triplets

Which characteristic of the genetic code lowers the likelihood of mutation?

degeneracy

Not true for genetic code

overlapping

How many autosomal chromosomes do you normally inherit from a single parent

What is a conditioned mutation?

trigger is required

Housekeeping gene controls should be included in the following assays:

southern blot, PCR, RT PCR, DNA fingerprint

Flow cytometry can be used for the following purposes:

To characterize immune phenotypes of the cells of patients with leukemia, To investigate changes in blood cell population based on size and granularity, To investigate cell surface expression of one or more molecules simultaneously, To investigate changes in the number of expressed molecules on the cell surface

177.What is true for CRISPR-Cas9?

It is possible to deliver DNA into human genomes with this method.

RLFPs have been tremendously useful for genomic mapping studies because:

They are not restricted to genes, and are abundantly scattered throughout the genome

How heterozygous genotype for an SNV appears on chromatograph after Sanger sequencing

two nucleotide specific signals at a given position (two peaks)

Monozygotic twins showed 45% concordance, dizygotic twins showed 15%. What is true about the inheritance?

miltifactorial

Since DNA has _______ charge, it moves toward the ____ electrode of the chamber

- +

To test that the mRNA encoding the morphogenic protein is localized at the anterior tip of early Drosophula embryo we as the technique

In situ hybridization

192.Which one is most the often used as genetic marker?

SNP

In recombinant methods, the term “vector” refers to _______

plasmid or other agent used to transfer DNA into a living cell

185.What is NOT true for retroviral vectors?

It is very effective, because it can infect all types of somatic cells.

Which one is the longest in the genome？

dystrophin

How are GWAS results represented?

Manhattan plot

What is the minimum member of SNPs in GWAS study?

100,000

GAWS is used to

to look for the probability of SNP to coincide with a phenotype

186.Which method can be used for the determination of the methylation pattern?

Bisulfite sequencing

Advantages of WES compared to WGS except

more information

Individuals with three copies of most autosomal do not survive. With extra X chromosome survive. Why?

the extra X chromosomes are inactivated

Increasing size

SNV, microsatellite, minisatellite, CNV

True for loss of function mitation

theses mutations usually have recessive phenotypes, the gene product having less or no function, when the allele has a complete loss of function it is often called an amorphic mutation, hemophilia is caused by such mutation

Certain allele has a greater fitness than others, resulting in an increase of its frequency.

directional selection

The substitution of one nucleotide for another is known

point mutation

A nucleotide deletion in DNA replication in the protein coding sequence

causes the aa inserted after the deletion to be incorrect

Frameshift mutation in genes can be produced by

deletion, insertion

Which genetic polymorphism has effect in also the risk of neural tube defects and coronary athereosclerotic disease

MTHFR C677T

Major forms of transmission of eukaryote genetic information, except

epigenetkcs

What kind of nucleic acids can be used in gene therapies

plasmids

Nucleic acid type that cannot be used in gene therapy

Y RNA

iPS stem cells are dervived from

adult somatic cells

What kinds of diseases can be treated by gene therapy?

AR, AD, complex diseases, tumors

What is the advantage of somatic gene therapy?

the effect of the gene therapy is not inherited bw generations

What is immunocytochemistry?

In situ detection of antigens (macromolecules) using specific antibodies produced reactive with them

Crisper cas9 based transfection cannot be used for

to introduce target proteins

Which higher : frequency of non disjunction

oogenesis

Which higher : frequency of replication errors

spermatogenesis

Which higher : frequency of crossing over

oogenesis

What DNA codes forproteins

proteins, RNA

Consequences of atypical mytosis

multinucleate cell

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

genetics2

genetics2

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

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

What is it: Environmental factors lead to the same clinical phenotype as do the genetic factors?

phenocopy

What step is involved in the block of polyspermy?

Ca ion increase in secondary oocyte

The role of acrosome during fertilization process is to

Contain enzymes that help a sperm head digest its way into an egg

Polymorphism refers to:

The presence of several distinct forms of DNA sequence within populations

Which statement is FALSE? DNA methylation plays a role in..

The stability of rRNA

Antisense RNA is

complementary with an RNA molecule

Accetylation

chromatin decondensation and high levels of gene expression

chromosome inactivation

The genetic regulatory mechanismm employed to compensate for the discrepancy between the presence of 2 X chromosomes in one sex but only 1 X chromosome in the other sex

dosage compensation

Genomic imprinting

the parental origin specific marks of the genome

A mechanism in which genes have different effects depending on whether they are transmitted to the offspring through the egg or sperm

genetic imprinting

Which technique made it possible to characterize the chromosome territories

M-FISH

Which method should be used to determine the risk of a child for Huntingtons

VNTR based southern blot

203.Which gene play an important role in Alzheimer disease?

APOE

What is the mode of inheritance of color blindness?

X-linked recessive trait

From whom did a male with red-green color blindness inherit the defective allele?

Only from his mother

CFTR heterozygosity is protective against

cholera

The most common. CF mutation consist of

deletion

Normal couple have 4 childeren, only 1 affected CF, parents genotypes

both are heterozygous

205.Which disease’s symptoms can be summarized as CATCH-22?

DiGeorge syndrome

47, XY+21

aneuplody, down

Edward syndrome is diagnosed by

karyotyping

familial hypercholoseterolaemia is caused by

LDL receptor

G6PD deficiency

Which gene defect causes hemophilia

Factor nine

false

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

Locus heterogeneity

CCr5 deficiency is protective against

HIV1

Shows anticipation in paternal transmission

Huntington

Not true fro Huntington disease

penetrance is always complete

Klinefelter and Turner

have 44 autosomes, result from non disjunction, involve an unusual number of sex chromosomes, can be identified by karyotyping

200.Which of the following may increase the risk of the development of deep vein thrombosis in case of oral contraceptives, long physical inactivity (air travel) or pregnancy?

Leyden mutation

Male pattern baldness is a

sex influenced trait

Marfan syndrome is caused by mutations

fibrillin

Marfan syndrome is characterized by lens dislocation, long limbs, spindly fingers… This is an example of

pleiotropic

As a doctor, what would you recommend to a pregnant mother to prevent baby with neural tube defects and considering that the mother has MTHFR 677TT genotype?

Supplement methylfolate

Not true for B thalassemia

a missense in codon6 of the b globing gene, substituting valine for glu.

Not benefit a patient with b thalassemia major

increasing a globin production

Not show X linked

Tay sachs disease

Mutation in sickle cell disease consist of

point mutation

If you examine a pedigree showing the transmission pattern of a mitochondrial gene inheritance, which of the following statements would be FALSE?

Only females will express the trait

Ana’s dad developed in his thirties a disease caused by genes carried by his mitochondria. Ana is 20 years-old and she is worried that she may have inherited the same disease. What can you tell Ana

she should not worry because mitochondria are inherited maternally

False about genetic code

nucleic acids are coded by nucleotide triplets

Which characteristic of the genetic code lowers the likelihood of mutation?

degeneracy

Not true for genetic code

overlapping

How many autosomal chromosomes do you normally inherit from a single parent

What is a conditioned mutation?

trigger is required

Housekeeping gene controls should be included in the following assays:

southern blot, PCR, RT PCR, DNA fingerprint

Flow cytometry can be used for the following purposes:

177.What is true for CRISPR-Cas9?

It is possible to deliver DNA into human genomes with this method.

RLFPs have been tremendously useful for genomic mapping studies because:

They are not restricted to genes, and are abundantly scattered throughout the genome

How heterozygous genotype for an SNV appears on chromatograph after Sanger sequencing

two nucleotide specific signals at a given position (two peaks)

Monozygotic twins showed 45% concordance, dizygotic twins showed 15%. What is true about the inheritance?

miltifactorial

Since DNA has _______ charge, it moves toward the ____ electrode of the chamber

- +

To test that the mRNA encoding the morphogenic protein is localized at the anterior tip of early Drosophula embryo we as the technique

In situ hybridization

192.Which one is most the often used as genetic marker?

SNP

In recombinant methods, the term “vector” refers to _______

plasmid or other agent used to transfer DNA into a living cell

185.What is NOT true for retroviral vectors?

It is very effective, because it can infect all types of somatic cells.

Which one is the longest in the genome？

dystrophin

How are GWAS results represented?

Manhattan plot

What is the minimum member of SNPs in GWAS study?

100,000

GAWS is used to

to look for the probability of SNP to coincide with a phenotype

186.Which method can be used for the determination of the methylation pattern?

Bisulfite sequencing

Advantages of WES compared to WGS except

more information

Individuals with three copies of most autosomal do not survive. With extra X chromosome survive. Why?

the extra X chromosomes are inactivated

Increasing size

SNV, microsatellite, minisatellite, CNV

True for loss of function mitation

Certain allele has a greater fitness than others, resulting in an increase of its frequency.

directional selection

The substitution of one nucleotide for another is known

point mutation

A nucleotide deletion in DNA replication in the protein coding sequence

causes the aa inserted after the deletion to be incorrect

Frameshift mutation in genes can be produced by

deletion, insertion

Which genetic polymorphism has effect in also the risk of neural tube defects and coronary athereosclerotic disease

MTHFR C677T

Major forms of transmission of eukaryote genetic information, except

epigenetkcs

What kind of nucleic acids can be used in gene therapies

plasmids

Nucleic acid type that cannot be used in gene therapy

Y RNA

iPS stem cells are dervived from

adult somatic cells

What kinds of diseases can be treated by gene therapy?

AR, AD, complex diseases, tumors

What is the advantage of somatic gene therapy?

the effect of the gene therapy is not inherited bw generations

What is immunocytochemistry?

In situ detection of antigens (macromolecules) using specific antibodies produced reactive with them

Crisper cas9 based transfection cannot be used for

to introduce target proteins

Which higher : frequency of non disjunction

oogenesis

Which higher : frequency of replication errors

spermatogenesis

Which higher : frequency of crossing over

oogenesis

What DNA codes forproteins

proteins, RNA

Consequences of atypical mytosis

multinucleate cell