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41 Cards in this Set
- Front
- Back
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The location of a particular gene on a chromosome
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locus
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locus
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The location of a particular gene on a chromosome
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The tendency of genes located on the same chromosome to end up in the same gamete. For any two of those genes, the probability that crossing over will disrupt the linkage is proportional to the distance separating them.
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linkage
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linkage
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The tendency of genes located on the same chromosome to end up in the same gamete. For any two of those genes, the probability that crossing over will disrupt the linkage is proportional to the distance separating them.
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A compensating phenomenon in females that “switches off” one X chromosome soon after the first cleavages of the zygote
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x inactivation
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x inactivation
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A compensating phenomenon in females that “switches off” one X chromosome soon after the first cleavages of the zygote
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In cells of females, a condensed X chromosome that was inactivated during early embryonic development
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barr body
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barr body
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In cells of females, a condensed X chromosome that was inactivated during early embryonic development
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a condition that that occurs in females whose active X chromosome has a mutated gene that blocks the formation of sweat glands
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Anhidrotic ectodermal dysplasia
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Anhidrotic ectodermal dysplasia
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a condition that that occurs in females whose active X chromosome has a mutated gene that blocks the formation of sweat glands
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cystic fibrosis
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A genetic disorder in which dry, thickened mucus clogs the airways, making breathing difficult and leading to bacterial infections
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A genetic disorder in which dry, thickened mucus clogs the airways, making breathing difficult and leading to bacterial infections
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cystic fibrosis
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A genetic disorder in which the amino acid phenylalanine builds up abnormally in the affected person
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Phenylketonuria
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Phenylketonuria
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A genetic disorder in which the amino acid phenylalanine builds up abnormally in the affected person
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A genetic disorder in which an enzyme for lipid metabolism is missing; it results in neural degeneration
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Tay-Sachs disease
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Tay-Sachs disease
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A genetic disorder in which an enzyme for lipid metabolism is missing; it results in neural degeneration
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Huntington disease
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A genetic disorder in which the basal nuclei of the brain degenerate
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A genetic disorder in which the basal nuclei of the brain degenerate
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Huntington disease
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A genetic disorder that disrupts the structure and function of smooth muscle cells in the wall of the aorta
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Marfan syndrome
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Marfan syndrome
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A genetic disorder that disrupts the structure and function of smooth muscle cells in the wall of the aorta
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Achondroplasia
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A genetic disorder that results in abnormally short arms and legs in affected adults
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A genetic disorder that results in abnormally short arms and legs in affected adults
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Achondroplasia
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Familial hypercholesterolemia
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A genetic disorder that leads to dangerously high blood cholesterol
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A genetic disorder that leads to dangerously high blood cholesterol
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Familial hypercholesterolemia
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Hemophilia
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A genetic disorder in which blood does not clot normally; the affected person risks dying from any injury that causes bleeding
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A genetic disorder in which blood does not clot normally; the affected person risks dying from any injury that causes bleeding
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Hemophilia
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Duchenne muscular dystrophy
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A genetic disorder linked to the X chromosome that leads to wasting of muscle tissue
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A genetic disorder linked to the X chromosome that leads to wasting of muscle tissue
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Duchenne muscular dystrophy
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Red/green colorblindness
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Vision problem in which the retina lacks cone cells that normally respond to light of red or green wavelengths
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Vision problem in which the retina lacks cone cells that normally respond to light of red or green wavelengths
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Red/green colorblindness
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Faulty enamel trait
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A genetic disorder linked to the X chromosome in which tooth enamel fails to develop properly
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A genetic disorder linked to the X chromosome in which tooth enamel fails to develop properly
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Faulty enamel trait
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Testicular feminizing syndrome
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A genetic disorder in which androgen receptors are defective; an affected XY embryo will develop as a female, but without uterus or ovaries
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A genetic disorder in which androgen receptors are defective; an affected XY embryo will develop as a female, but without uterus or ovaries
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Testicular feminizing syndrome
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Steps to prepare a karyotype:
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1. Cells are cultured in a growth medium
2. Colchincine is added to arrest mitosis at metaphase 3. Cell culture is centrifuged 4. Cells are transferred to a saline solution causing them to swell 5. The cells are placed on a slide, fixed, and stained 6. The chromosomes are photographed through a microscope 7. The chromosomes are cut out and arranged by size with the sex chromosomes last |
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Diseases with Autosomal dominance inheritance
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Achondroplasia
Huntington disorder Familial hypercholesterolemia Marfan syndrome Testicular feminizing syndrome |
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Diseases with Autosomal recessive inheritance
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Phenylketonuria
Tay-Sachs disease |
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Diseases with X-linked recessive inheritance
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Hemophilia
Duchenne muscular dystrophy Red-green color blindness |
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Diseases with x-linked dominant inheritance
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Faulty enamel trait
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Diseases with sex influenced inheritance
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Pattern baldness
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CHH (cartilage-hair hypoplasia)
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a disease, caused by mutation of a single gene, that affects multiple organ systems, including skeletal, integumentary and immune systems
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