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inherited defects 1

inherited defects 1
40問 • 2年前
  • Laxamana, Ivan Christopher L.
    • 通報

    問題一覧

  • 1

    -It refers to a medical condition or abnormality that is caused by changes or mutations in an individual's DNA.

    inherited defects

  • 2

    a single copy of a mutated or defective gene on one of the non-sex chromosomes.

    autosomal dominant

  • 3

    the presence of two copies of a mutated or defective gene (homozygosity) is required for an individual.

    autosomal recessive

  • 4

    caused by a mutation or abnormality in a gene located on the X chromosome.

    x-linked disorder

  • 5

    A _____ mutation usually occurs in only one copy of a gene.

    defective

  • 6

    When two people carrying a recessive mutation in the same gene have children, ________ of the children will inherit both mutant copies and exhibit the disease.

    25%

  • 7

    - lack of enzyme causes immune deficiency

    adenosine deaminase deficiency

  • 8

    first defect approved for human gene therapy

    adenosine deaminase deficiency

  • 9

    Its frequency is rare

    adenosine deaminase deficiency

  • 10

    Defective ion transport indirectly affects mucous secretion in lungs

    cystic fibrosis

  • 11

    - It affects 1/2000 (whites) - Rare in Asians

    cystic fibrosis

  • 12

    Disintegration of muscle tissue

    duchenne’s muscular dystrophy

  • 13

    Giant gene is a frequent target for mutations

    duchenne’s muscular dystrophy

  • 14

    It affects 1/3000 males (sex-linked)

    duchenne’s muscular dytrophy

  • 15

    Common form of X-linked mental retardation

    fragile x syndrome

  • 16

    1/1500 in males 1/3000 in females (sex-linked)

    fragile x syndrome

  • 17

    Defect in blood coagulation

    hemophilia

  • 18

    1/10,000 males (sex-linked)

    hemophilia

  • 19

    Genetically dominant form of dystrophy

    myotonic dystrophy

  • 20

    It affects 1/10,000

    myotonic dystrophy

  • 21

    Mental retardation due to lack of enzyme

    phenylketonuria

  • 22

    Detected in newborns by urine analysis Special diet prevents symptoms

    phenylketonuria

  • 23

    1/5000 (Western Europe) Rare elsewhere

    phenylketonuria

  • 24

    Defect in hemoglobin beta chain

    sickle cell anemia

  • 25

    Heterozygotes are resistant to malaria but homozygotes are sick

    sickle cell anemia

  • 26

    Common in Africa First molecular disease to be identified

    sickle cell anemia

  • 27

    1/400 (U.S. blacks)

    sickle cell anemia

  • 28

    If the brother and sister have offspring, their child may inherit ______ copies of the defective gene and then exhibit the symptoms of the defect.

    two

  • 29

    deficit of clotting factor 8

    hemophilia a

  • 30

    aka christmas disease deficit of clotting factor 9

    hemophilia b

  • 31

    Some ________ are due to the interacting effects of several individual genes.

    multigene defects

  • 32

    Some examples are cleft palate, spina bifida, certain cancers, and diabetes.

    multigene defects

  • 33

    is a genetic disorder that occurs when an individual has an extra copy of chromosome 21

    down syndrome

  • 34

    is a genetic condition in which a single functional copy of a particular gene is insufficient to maintain normal cellular function.

    haploinsufficiency

  • 35

    refers to a condition where an individual has only one functional copy of the elastin gene (ELN) instead of the normal two copies.

    elastin haploinsufficiency

  • 36

    is found in the elastic tissues of skin, lung, and blood vessels.

    elastin

  • 37

    People with one copy of ELN are unable to make sufficient elastin for this tissue, resulting in a narrowing of the aorta that sometimes requires surgery and is referred to as ________.

    congenital supravalvular aortic stenosis

  • 38

    occur when the defective copy of a gene interferes with the functional copy.

    dominant negative mutations

  • 39

    the defective protein may bind to and interfere with the normal protein and the proteins function as ______

    dimers

  • 40

    If the mutant protein is defective but still forms dimers, then ______ of the complexes will be defective.

    3/4

    • Anaphysio Q1

    Anaphysio Q1

    Laxamana, Ivan Christopher L. · 92問 · 2年前

    Anaphysio Q1

    Anaphysio Q1

    92問 • 2年前
    Laxamana, Ivan Christopher L.

    Anaphysio Systems

    Anaphysio Systems

    Laxamana, Ivan Christopher L. · 13問 · 2年前

    Anaphysio Systems

    Anaphysio Systems

    13問 • 2年前
    Laxamana, Ivan Christopher L.

    homeostasis

    homeostasis

    Laxamana, Ivan Christopher L. · 39問 · 2年前

    homeostasis

    homeostasis

    39問 • 2年前
    Laxamana, Ivan Christopher L.

    Anaphy tissue

    Anaphy tissue

    Laxamana, Ivan Christopher L. · 93問 · 2年前

    Anaphy tissue

    Anaphy tissue

    93問 • 2年前
    Laxamana, Ivan Christopher L.

    Biotech immune tech

    Biotech immune tech

    Laxamana, Ivan Christopher L. · 72問 · 2年前

    Biotech immune tech

    Biotech immune tech

    72問 • 2年前
    Laxamana, Ivan Christopher L.

    Integumentary PART 1

    Integumentary PART 1

    Laxamana, Ivan Christopher L. · 47問 · 2年前

    Integumentary PART 1

    Integumentary PART 1

    47問 • 2年前
    Laxamana, Ivan Christopher L.

    Integumentary PART 2

    Integumentary PART 2

    Laxamana, Ivan Christopher L. · 38問 · 2年前

    Integumentary PART 2

    Integumentary PART 2

    38問 • 2年前
    Laxamana, Ivan Christopher L.

    Integumentary PART 3

    Integumentary PART 3

    Laxamana, Ivan Christopher L. · 36問 · 2年前

    Integumentary PART 3

    Integumentary PART 3

    36問 • 2年前
    Laxamana, Ivan Christopher L.

    Environmental tech PART 1

    Environmental tech PART 1

    Laxamana, Ivan Christopher L. · 37問 · 2年前

    Environmental tech PART 1

    Environmental tech PART 1

    37問 • 2年前
    Laxamana, Ivan Christopher L.

    skeletal part 1

    skeletal part 1

    Laxamana, Ivan Christopher L. · 46問 · 2年前

    skeletal part 1

    skeletal part 1

    46問 • 2年前
    Laxamana, Ivan Christopher L.

    skeletal part 2

    skeletal part 2

    Laxamana, Ivan Christopher L. · 48問 · 2年前

    skeletal part 2

    skeletal part 2

    48問 • 2年前
    Laxamana, Ivan Christopher L.

    skeletal part 3

    skeletal part 3

    Laxamana, Ivan Christopher L. · 33問 · 2年前

    skeletal part 3

    skeletal part 3

    33問 • 2年前
    Laxamana, Ivan Christopher L.

    Biotech - compiled quizzes

    Biotech - compiled quizzes

    Laxamana, Ivan Christopher L. · 46問 · 2年前

    Biotech - compiled quizzes

    Biotech - compiled quizzes

    46問 • 2年前
    Laxamana, Ivan Christopher L.

    nanobiotech

    nanobiotech

    Laxamana, Ivan Christopher L. · 51問 · 2年前

    nanobiotech

    nanobiotech

    51問 • 2年前
    Laxamana, Ivan Christopher L.

    Transgenic 1

    Transgenic 1

    Laxamana, Ivan Christopher L. · 49問 · 2年前

    Transgenic 1

    Transgenic 1

    49問 • 2年前
    Laxamana, Ivan Christopher L.

    trangenic 2

    trangenic 2

    Laxamana, Ivan Christopher L. · 59問 · 2年前

    trangenic 2

    trangenic 2

    59問 • 2年前
    Laxamana, Ivan Christopher L.

    inherited defects 2

    inherited defects 2

    Laxamana, Ivan Christopher L. · 20問 · 2年前

    inherited defects 2

    inherited defects 2

    20問 • 2年前
    Laxamana, Ivan Christopher L.

    inherited add infos

    inherited add infos

    Laxamana, Ivan Christopher L. · 8問 · 2年前

    inherited add infos

    inherited add infos

    8問 • 2年前
    Laxamana, Ivan Christopher L.

    elective 1

    elective 1

    Laxamana, Ivan Christopher L. · 45問 · 2年前

    elective 1

    elective 1

    45問 • 2年前
    Laxamana, Ivan Christopher L.

    elective 2

    elective 2

    Laxamana, Ivan Christopher L. · 37問 · 2年前

    elective 2

    elective 2

    37問 • 2年前
    Laxamana, Ivan Christopher L.

    philosophy of science

    philosophy of science

    Laxamana, Ivan Christopher L. · 19問 · 2年前

    philosophy of science

    philosophy of science

    19問 • 2年前
    Laxamana, Ivan Christopher L.

    問題一覧

  • 1

    -It refers to a medical condition or abnormality that is caused by changes or mutations in an individual's DNA.

    inherited defects

  • 2

    a single copy of a mutated or defective gene on one of the non-sex chromosomes.

    autosomal dominant

  • 3

    the presence of two copies of a mutated or defective gene (homozygosity) is required for an individual.

    autosomal recessive

  • 4

    caused by a mutation or abnormality in a gene located on the X chromosome.

    x-linked disorder

  • 5

    A _____ mutation usually occurs in only one copy of a gene.

    defective

  • 6

    When two people carrying a recessive mutation in the same gene have children, ________ of the children will inherit both mutant copies and exhibit the disease.

    25%

  • 7

    - lack of enzyme causes immune deficiency

    adenosine deaminase deficiency

  • 8

    first defect approved for human gene therapy

    adenosine deaminase deficiency

  • 9

    Its frequency is rare

    adenosine deaminase deficiency

  • 10

    Defective ion transport indirectly affects mucous secretion in lungs

    cystic fibrosis

  • 11

    - It affects 1/2000 (whites) - Rare in Asians

    cystic fibrosis

  • 12

    Disintegration of muscle tissue

    duchenne’s muscular dystrophy

  • 13

    Giant gene is a frequent target for mutations

    duchenne’s muscular dystrophy

  • 14

    It affects 1/3000 males (sex-linked)

    duchenne’s muscular dytrophy

  • 15

    Common form of X-linked mental retardation

    fragile x syndrome

  • 16

    1/1500 in males 1/3000 in females (sex-linked)

    fragile x syndrome

  • 17

    Defect in blood coagulation

    hemophilia

  • 18

    1/10,000 males (sex-linked)

    hemophilia

  • 19

    Genetically dominant form of dystrophy

    myotonic dystrophy

  • 20

    It affects 1/10,000

    myotonic dystrophy

  • 21

    Mental retardation due to lack of enzyme

    phenylketonuria

  • 22

    Detected in newborns by urine analysis Special diet prevents symptoms

    phenylketonuria

  • 23

    1/5000 (Western Europe) Rare elsewhere

    phenylketonuria

  • 24

    Defect in hemoglobin beta chain

    sickle cell anemia

  • 25

    Heterozygotes are resistant to malaria but homozygotes are sick

    sickle cell anemia

  • 26

    Common in Africa First molecular disease to be identified

    sickle cell anemia

  • 27

    1/400 (U.S. blacks)

    sickle cell anemia

  • 28

    If the brother and sister have offspring, their child may inherit ______ copies of the defective gene and then exhibit the symptoms of the defect.

    two

  • 29

    deficit of clotting factor 8

    hemophilia a

  • 30

    aka christmas disease deficit of clotting factor 9

    hemophilia b

  • 31

    Some ________ are due to the interacting effects of several individual genes.

    multigene defects

  • 32

    Some examples are cleft palate, spina bifida, certain cancers, and diabetes.

    multigene defects

  • 33

    is a genetic disorder that occurs when an individual has an extra copy of chromosome 21

    down syndrome

  • 34

    is a genetic condition in which a single functional copy of a particular gene is insufficient to maintain normal cellular function.

    haploinsufficiency

  • 35

    refers to a condition where an individual has only one functional copy of the elastin gene (ELN) instead of the normal two copies.

    elastin haploinsufficiency

  • 36

    is found in the elastic tissues of skin, lung, and blood vessels.

    elastin

  • 37

    People with one copy of ELN are unable to make sufficient elastin for this tissue, resulting in a narrowing of the aorta that sometimes requires surgery and is referred to as ________.

    congenital supravalvular aortic stenosis

  • 38

    occur when the defective copy of a gene interferes with the functional copy.

    dominant negative mutations

  • 39

    the defective protein may bind to and interfere with the normal protein and the proteins function as ______

    dimers

  • 40

    If the mutant protein is defective but still forms dimers, then ______ of the complexes will be defective.

    3/4