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Human genetics > midterm > Flashcards

midterm Flashcards

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Biology 101 flashcards
1
Q
  1. How many pairs of autosomes does a human female have?
A

22

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2
Q
  1. What sex chromosomes does a human female have?
A

XX

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3
Q
  1. ___ are the units of heredity.
A

genes

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4
Q
  1. A normal human karyotype has a total of ___ chromosomes.
A

46

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5
Q

Cells that replicate themselves and generate differentiated cells when they divide are called ___.

A

stem cells

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6
Q

Chromosome tips, or ___, function like cellular fuses that burn down as pieces are lost from the end.

A

telomeres

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7
Q

Gametes, such as egg & sperm, are ___ which means that they have only one of each type of chromosome.

A

haploid

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8
Q

Genetic variability arises during meiosis from ___.

A

crossing over, independent assortment, random alignment of chromosomes at metaphase

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9
Q

. Crossing over occurs during ___.

A

prophase 1 of meiosis 1

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10
Q

Lysosome matches with what function?

A

Dismantles debris

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11
Q

Rough ER matches with what function?

A

protein syntheis

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12
Q

Nucleus matches with what function?

A

house DNA

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13
Q

Smooth ER matches with what function

A

lipid synthesis

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14
Q

Golgi apparatus matches with what function?

A

processes Secretions

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15
Q

Mitochondrion matches with what function?

A

energy extraction

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16
Q

Peroxisome matches with what function?

A

detoxification

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17
Q

Ribosomes matches with what function

A

catalyst for protein synthesis

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18
Q

Genes comprise of __, which is a double-stranded polymer consisting of a chain of nucleotide s.

A

(DNA) deoxyribonucleic acid

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19
Q

The three components of DNA include: Phosphate sugar and base. What are the four bases

A

Adenine, Cytosine, Guanine, Thymine

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20
Q

What are the stages of mitosis and cytokinesis?

A

prophase –> metaphase –> anaphase –> telophase –> cytokinesis

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21
Q

What base does RNA have that DNA does not?

A

uracil

22
Q

The allele that masks the effects of the other is__ and the masked allele is ___.

A

dominant; recessive

23
Q

In humans, the dominance relationship between the A and B alleles of the ABO blood group gene is and example of__.

A

codominance

24
Q

The fatty sheath that costs the neuron extensions call axons is called___.

A

myelin

25
Q

characteristics shared by adopted children and their biological parents are mostly __, while their similarities with adopted parents reflect _ influences.

A

genetic; environmental

26
Q

in pea plants, tall is dominant to short. what would be the genotype of a heterozygous tall plant?

A

Tt

27
Q

A human male inherits X-linked traits from__.

A

mother only

28
Q

What is the function of SRY?

A

transcriptional factor gene that stimulates male development

29
Q

the genes of narcolepsy were first identified in __.

A

dogs

30
Q

Two phenotipically normal individuals have an affected child. What can we conclude about the parents?

A

they both carried the disease allele

31
Q

_____________ is a site in the DNA that has a different base in at least 1% of the population

A

(SNPs) single nucleotide polymorphisms

32
Q

What do circles symbolize in a pedigree?

A

female

33
Q

What do squares symbolize in a pedigree?

A

male

34
Q

What does the half filled symbol mean in a pedigree?

A

carrier of disease

35
Q

What does the completed filled symbol mean in a pedigree?

A

has disease

36
Q

What does DNA stand for?

A

deoxyribonucleic acid

37
Q

what does RNA stand for?

A

Ribonucleic acid

38
Q

What strand would make the sequence 5’ AAACGCTT 3’ a double stranded DNA molecule?

A

5’ AAGCGTTT 3’

39
Q

A _____________ is a DNA base with a single ring structure, for example, cytosine and thymine.

A

Pyrimidine

40
Q

Energy is required to break the hydrogen bonds holding the bases together. Which pair will be the most difficult to separate?

A

C-G

41
Q

The first mRNA condon to specify an amino acid in a protein seqence is always ___________.

A

AUG

42
Q

A _____________ mutation occurs during the DNA replication that precedes meiosis

A

germline

43
Q

A _____________ mutation occurs during the DNA replication that precedes mitosis.

A

somatic

44
Q

Changing the condon AGC to AGA represents a _________________ mutation.

A

missense

45
Q

T or F. Gene expression patterns change over time and in different cell types.

A

False

46
Q

What are the steps of PCR?

A

denotation, annealing, elongation

47
Q

Explain denotation.

A

uses heat to openn

48
Q

Explain annealing .

A

adds primer to DNA

49
Q

Explain elongation.

A

rapidly replicates (stretching a material)

50
Q

central dogma brief summary _~> ~>
_ _

A

DNA ~> RNA ~> PROTEIN
Transcription Translation

51
Q

List 5 ways DNA and RNA differ

A

DNA
1 usually double stranded
2 thymine as a base
3 Deoxyribose as the sugar
4 maintains proteins- encoding info
5 cannot function as an enzyme
6 persists

RNA
1 usually single stranded
2 uracil as a base
3 ribose as the sugar
4 carries protein- encoding info and controls how the info is used
5 can function as an enzyme
6 short lived

52
Q
A

Human genetics (1 decks)

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