Chapter 14 - The Human Genome Flashcards

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1
Q

Karyotype

A

A picture of chromosomes

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2
Q

Two chromosomes that are either x or y

A

Sex chromosomes

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3
Q

Autosomes

A

Any chromosomes other than sex chromosomes

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4
Q

Pedigree

A

Diagram to determine inheritance

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5
Q

What patterns of inheritance does blood type have?

A

Multiple Alleles, Codominance

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6
Q

Albinism Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Lack of pigment in skin, hair, and eyes.

Recessive Alleles

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7
Q

Cystic Fibrosis Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Excess mucus in lungs, digestive tract, liver; increased susceptibility to infections.
Recessive Alleles

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8
Q

Galactosemia Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Accumulation of galactose in tissues; mental retardation; eye and liver damage.
Recessive Alleles

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9
Q

Phenylketonuria (PKU) Sypmtoms - Caused by recessive, dominant , or codominant alleles?

A

Accumulation of phenylalinine in tissues; lack of normal skin pigment; mental retardation.
Recessive Alleles

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10
Q

Tay-sachs Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Lipid Accumulation in brain cells; mental deficiency; blindness; death in early childhood.
Recessive Alleles

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11
Q

Achondroplasia Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Dwarfism (one form).

Dominant Alleles

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12
Q

Huntington Disease Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Mental Deterioration and uncontrollable movements;
symptoms usually appear in middle age.
Dominant Alleles

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13
Q

Hypercholesterolemia Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Excess cholesterol in blood; heart disease.

Dominant Alleles

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14
Q

Sickle Cell Disease Symptoms - Caused by recessive, dominant , or codominant alleles?

A

Misshapen, or sickled, red blood cells; damage to many tissues.
Codominant Alleles

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15
Q

What makes an allele dominant or recessive?

A

Its role and protein product in the cell.

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16
Q

If only one copy of a normal allele can supply cells with enough chloride channel proteins to function, how many phenotypes will it have?

A

Two Phenotypes

17
Q

Sex-Linked Genes:

A

Genes that appear on only x or y chromosomes, or are inherited from only one of these two

18
Q

Colorblindness: Is it sex-linked? If so, to which chromosome?

A

Yes; to the x chromosome

19
Q

Name diseases that are x-linked:

A

Duchenne Muscular Dystrophy,
Melanoma,
Colorblindness,
Hemophilia

20
Q

Hemophillia Symptoms - Caused by recessive, dominant , or codominant alleles? Sex-linked? If so, to what?

A

Lack of protein needed for blood clotting; often times early death.
Recessive Alleles;
X-linked

21
Q

Duchenne Muscular Dystrophy Symptoms - Caused by recessive, dominant , or codominant alleles? Sex-linked? If so, to what?

A

Progressive loss of skeletal muscle.
Recessive Alleles
X-Linked;

22
Q

Nondisjunction:

A

When homologous chromosomes fail to separate during meiosis. Means not coming apart. Results in a disorder of chromosome numbers

23
Q

Down Syndrome Symptoms

A

Has a trisomy in chromosome number 21; mild to severe mental retardation; increased susceptibility to diseases and higher frequency of birth defects.

24
Q

Sex Chromosome Disorders

A

Turner’s Syndrome, Klinefelter’s Syndrome

25
Q

Turner’s Syndrome - In females

A

They only inherit one X chromosome, and do not develop sex-organs during puberty, causing sterility.

26
Q

Klinefelter’s Syndrome - in males:

A

Males inherit more than one x chromosome; Interferes with meiosis, and usually prevents an individual from producing offrspring

27
Q

DNA Fingerrprinting:

A

Analyzes the sections of DNA that have no known function but vary widely from one individual to another

28
Q

Rapid Sequencing:

A

Cutting DNA into random fragments and then determining the sequence of bases in each fragment.

29
Q

Gene therapy:

A

Changing the gene that causes the genetic disorder.