Human Genome

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29 Terms

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Chromosomes

threadlike structures made of DNA molecules that contain the genes

<p>threadlike structures made of DNA molecules that contain the genes</p>
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Human Karyotype

46 chromosomes, 23 pairs

<p>46 chromosomes, 23 pairs</p>
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Karyotype

A display of the chromosome pairs of a cell arranged by size and shape. Shows autosomes, sex chromosomes, and homologous chromosomes.

<p>A display of the chromosome pairs of a cell arranged by size and shape. Shows autosomes, sex chromosomes, and homologous chromosomes.</p>
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Autosomes

Any chromosome that is not a sex chromosome

<p>Any chromosome that is not a sex chromosome</p>
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sex chromosomes

X and Y chromosomes.

<p>X and Y chromosomes.</p>
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XX

female sex chromosomes

<p>female sex chromosomes</p>
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XY

male sex chromosomes

<p>male sex chromosomes</p>
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sex-linked traits

traits controlled by genes located on the X chromosome.

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pedigree

A diagram that shows the occurrence of a genetic trait, either dominant or recessive, in several generations of a family.

<p>A diagram that shows the occurrence of a genetic trait, either dominant or recessive, in several generations of a family.</p>
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Circle represents

female

<p>female</p>
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Square represents

male

<p>male</p>
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Half shaded circle or square

carrier

<p>carrier</p>
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genetic disorder

An abnormal condition that a person inherits through genes or chromosomes caused by mutations in DNA

<p>An abnormal condition that a person inherits through genes or chromosomes caused by mutations in DNA</p>
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Huntington's disease

A human genetic disease caused by a dominant allele; characterized by uncontrollable body movements and degeneration of the nervous system at 30 to 40 years old.

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PKU

A human metabolic disease caused by a mutation in a gene coding for a phenylalanine processing enzyme.

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Tay-Sachs disease

A human genetic disease caused by a recessive allele that leads to the accumulation of lipids in the brain.

<p>A human genetic disease caused by a recessive allele that leads to the accumulation of lipids in the brain.</p>
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Allelles

specific versions of a gene

<p>specific versions of a gene</p>
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multiple alleles

traits that are controlled by more than two alleles (ex. ABO blood typing = A allele, B allele, & O allele)

<p>traits that are controlled by more than two alleles (ex. ABO blood typing = A allele, B allele, &amp; O allele)</p>
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dominant allele

represented by a capital letter

<p>represented by a capital letter</p>
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recessive allele

represented by a lowercase letter

<p>represented by a lowercase letter</p>
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Sickle-Cell Disease

Genetic disorder in which red blood cells have abnormal hemoglobin molecules and take on an abnormal shape. Caused by a change in one DNA base.

<p>Genetic disorder in which red blood cells have abnormal hemoglobin molecules and take on an abnormal shape. Caused by a change in one DNA base.</p>
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Colorblindness

a recessive x-linked disorder in which an individual cannot distinguish between certain colors. Allele inherited from mother.

<p>a recessive x-linked disorder in which an individual cannot distinguish between certain colors. Allele inherited from mother.</p>
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Cycstic Fibrosis

human genetic disorder caused by a recessive allele. It causes a single gene to fail to produce a protein that moves ion across the cell membrane. Body produces thick mucus in lungs.

<p>human genetic disorder caused by a recessive allele. It causes a single gene to fail to produce a protein that moves ion across the cell membrane. Body produces thick mucus in lungs.</p>
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Nondisjunction

Error in meiosis in which homologous chromosomes fail to separate.

<p>Error in meiosis in which homologous chromosomes fail to separate.</p>
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Achondroplasia

A form of human dwarfism caused by a single dominant allele

<p>A form of human dwarfism caused by a single dominant allele</p>
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Sex probability of offspring

50% male 50% female

<p>50% male 50% female</p>
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Phenotype

physical characteristics of an organism

<p>physical characteristics of an organism</p>
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Genotype

genetic makeup of an organism

<p>genetic makeup of an organism</p>
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Down Syndrome

a condition of intellectual disability and associated physical disorders caused by an extra copy of chromosome 21.

<p>a condition of intellectual disability and associated physical disorders caused by an extra copy of chromosome 21.</p>