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Genetics - Exam 1 > Basics > Flashcards

Basics Flashcards

1
Q

List 3 things that homologous chromosomes have in common that would not be in common between nonhomologous chromosomes.

A

Same length, same centromere position, same genes (and bands)

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2
Q

What does “DNA” stand for?

A

Deoxyribonucleic Acid

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3
Q

Define Karyotype

A

An organized array of an individual’s chromosomes

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4
Q

Define Autosomes

A

All chromosomes other than the sex chromosomes (22 pairs, 44 chromosomes)

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5
Q

Define Dominant

A

The allele seen in the phenotype

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6
Q

Define Recessive

A

The allele not seen in the phenotype

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7
Q

Define Phenotype

A

Describes the appearance of an individual for a trait

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8
Q

Define Genotype

A

Describes the alleles that an individual has for a particular gene

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9
Q

Define Alleles

A

Forms of genes

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10
Q

Define Homozygous

A

2 of the same alleles for a gene

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11
Q

Define Heterozygous

A

2 different alleles for a gene

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12
Q

Define Carrier

A

Heterozygous for a gene (carrier for the recessive allele of the gene)

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13
Q

How many chromosomes are expected to be in the somatic cell of a normal human?

A

46

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14
Q

What was Carey Bostian’s contribution to genetics?

A

A geneticist and professor at NC State and created the class Genetics in Human Affairs

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15
Q

What was Wendell McKenzie’s contribution to genetics?

A

Taught Genetics in Human Affairs at NC State.

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16
Q

What was Gregor Mendel’s contribution to genetics?

A

1866
Found that discrete particles were passed from generation to generation.
Law of Random Segregation
Law of Independent Assortment

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17
Q

What was Friedrich Miescher’s contribution to genetics?

A

1869
First isolated DNA from white blood cells.
Called it “nuclein”.

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18
Q

What was Boveri and Sutton’s contribution to genetics?

A

1902
Observed chromosomes in meiosis.
Recognized that chromosome migration corresponded with the behavior of Mendel’s genes.

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19
Q

What was Avery, McCarty and MacLeod’s contribution to genetics?

A

Proved DNA is the genetic material and could transform bacteria from one type to another.

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20
Q

What was Watson and Crick’s contribution to genetics?

A

1953

Determined the structure of DNA

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21
Q

What was Franklin and Wilkins’s contribution to genetics?

A

X-ray diffraction studies of DNA

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22
Q

What was Chargaff’s contribution to genetics?

A

1951
DNA contains equal amounts of guanine and cytosine.
DNA contains equal amounts of adenine and thymine.

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23
Q

What was Tjio and Levan’s contribution to genetics?

A

1956

Successfully counted human chromosomes

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24
Q

Identify the meaning of AIDS and HIV. Some people say a baby “inherited AIDS from the mother”. Why is this incorrect?

A

AIDS: Acquired Immune Deficiency Syndrome is a disease of the immune system caused by infection with HIV: Human Immunodeficiency Virus.
It is not something that is geneticly passed from mother to baby.

25
Q

How many chromosomes are expected to be in a gamete of a normal human?

A

23

26
Q

Where is DNA located in a human cell?

A

Nucleus

27
Q

Identify: centromere, chromosome, chromatid, metacentric, acrocentric, sub-metacentric, telomere

A

Centromere: Center dot of the chromosome
Chromosome: Top, bottom, with centromere in between
Chromatid: When 2 chromosomes are attached at the centromere, it’s one of those chromosomes.
Metacentric: Centromere in the center.
Sub-metacentric: Centromere is a little off center.
Acrocentric: Centromere is very off center.
Telocentric: Centromere is at the end
Telomere: End point of the chromosome.

28
Q

What is a chromosome composed of and what are the percentages?

A

A chromosome is composed of approximately 15% DNA, 10% RNA and 75% protein.

29
Q

What was thought to be the genetic material prior to the determination that DNA is the genetic material?

A

Protein

30
Q

Give an example of a genetic disorder that is dominant to the normal type.

A

Osteogenesis Imperfecta,

Huntington’s Disease

31
Q

Give an example of a genetic disorder that is recessive to the normal type.

A

Cystic Fibrosis,
Sickle Cell Anemia,
Tay Sach’s Disease

32
Q

Give an example of a genetic disorder that is due to either too many or too few chromosomes.

A

Down Syndrome

33
Q

What does the phrase “He is a carrier” of a genetic disorder imply about the individual’s genotype and phenotype and the inheritance pattern of the disorder?

A

The genotype is heterozygous for the alleles.

The phenotype does not show the recessive allele of the gene.

34
Q

What is the “Genetics in Human Affairs” significance of having a dominant mutation?

A

Shows in the phenotype, has the disorder.

35
Q

What is the “Genetics in Human Affairs” significance of being a carrier for a recessive mutation?

A

Does not show in the phenotype, does not have the disorder.

36
Q

Identify basic symptoms, treatment options and genetic transmission of Marfan syndrome.

A

Genetic disorder of human connective tissue.
Tall with long limbs and long fingers.
Dominant.
Treatment is done as each problem arises.

37
Q

Identify basic symptoms, treatment options and genetic transmission of Leber’s disease.

A

Loss of vision.
Mitochondrial mutation passed down by the mother.
Treatment is available if done early on.

38
Q

Identify basic symptoms, treatment options and genetic transmission of cystic fibrosis.

A

Accumulation of thick mucus in lungs leading to respiratory infections and breathing problems.
Recessive mutation, chromosome #7.
Medication and machines help keep mucus out.

39
Q

Identify basic symptoms, treatment options and genetic transmission of sickle cell anemia.

A

Abnormality in red blood cells.
Recessive.
People have to take folic acid daily.

40
Q

Identify basic symptoms, treatment options and genetic transmission of PKU.

A

Accumulation of phenylpyruvic acid in brain leading to mental retardation.
Need phenylanaline, but can’t have extra.
Special diet.

41
Q

Identify basic symptoms, treatment options and genetic transmission of albinism.

A

No melanin pigment.

Vision problems.

42
Q

Identify basic symptoms, treatment options and genetic transmission of alkaptonuria.

A

Build-up of homogenistic acid in cartilage, urine, skin, and nails.
Can lead to joint, heart and hearing problems.

43
Q

Identify basic symptoms, treatment options and genetic transmission of Tay Sachs disease.

A

Lysosomal storage disorder where fatty substance builds up in the brain and destroys nerve tissue.
Blindness, paralysis, death.
High in Jewish population.

44
Q

Identify basic symptoms, treatment options and genetic transmission of osteogenesis imperfecta.

A

Brittle bones.

Treatment to strengthen bones.

45
Q

Identify basic symptoms, treatment options and genetic transmission of Huntington’s Disease.

A

Degenerative neurological disease onset around 40 years old.
Dominant
No cure, but genetic testing is available.

46
Q

Identify basic symptoms, treatment options and genetic transmission of Xeroderma pigmentosum.

A

Recessive genetic disorder where damage by ultraviolet light can not be repaired.
Treatment is avoiding exposure to sunlight.

47
Q

Identify basic symptoms, treatment options and genetic transmission of galactosemia.

A

Can not metabolize sugar.

Eliminate lactose and galactose in diet.

48
Q

Identify basic symptoms, treatment options and genetic transmission of Down Syndrome.

A

(aka Trisomy 21)

Physical and intellectual disabilities.

49
Q

Distinguish between identical (monozygotic) and fraternal (dizygotic) twins.

A

Identical twins come from the same egg.

Fraternal twins come from 2 different eggs.

50
Q

List the stages of mitosis in order and give a short description about what happens to the chromosomes in each stage.

A

Prophase: Chromosomes condense
Metaphase: Chromosomes align
Anaphase: Centromeres part and chromatids separate
Telephase: Spindle disassembles and nuclear envelope forms.

51
Q

What are the stages of the cell cycle and what happens in each stage?

A

G1: Growth phase 1: Lots of gene expression
S: Synthesis of DNA
G2: Growth phase 2: Preparation for cell division
Mitosis: Produces 2 daughter cells that are identical to the parent cell.

52
Q

Identify the function of each of the plasma membrane.

A

Separates interior of cells from the outside. Hydrophobic inside, hydrophilic outsides.

53
Q

Identify the function of each of the mitochondria.

A

“Powerhouse”
Break down nutrients to make energy.
Contains DNA. Passed from mother.

54
Q

Identify the function of each of the lysosome.

A

Remove and recycle garbage.

40 Digestive enzymes.

55
Q

Identify the function of each of the Golgi body.

A

Package and process proteins and lipids.

56
Q

Identify the function of each of the endoplasmic reticulum.

A

Transport network for molecules

57
Q

Identify the function of each of the ribosome.

A

Assembly line where RNA is used to synthesize proteins into amino acids.

58
Q

Identify the function of each of the nucleus.

A

The cell’s info center: Houses chromosomes and DNA

59
Q

Identify the function of each of the cytoplasm.

A

Holds everything together.

Genetics - Exam 1 (5 decks)

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