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From Flashcardlet > Human Genetics chapter 2 > Flashcards

Human Genetics chapter 2 Flashcards

0
Q

Carbohydrates

A

Macromolecules including sugars , glycogen, and starches composed of sugar monomers linked and cross-Linked together.

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1
Q

Macromolecules

A

Large cellular polymers assembled by chemically linking monomers together.

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2
Q

Lipids

A

A class of cellular macromolecules including fats and oils that are insoluble in water

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3
Q

Proteins

A

A class of cellular macromolecules composed of amino acid monomers linked together and folded into a three-dimensional shape

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4
Q

Nucleic acids

A

A class of cellular macromolecules composed of nucleotide monomers linked together. There are two types of Nucleic acids, deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), which differ in the structure of the monomers

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5
Q

Molecules

A

Structures composed of two or more atoms held together by chemical bonds

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6
Q

Organelles

A

Cytoplasmic structures that have a specialized function.

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7
Q

Plasma membrane

A
  1. One of two cellular domains, the plasma membrane is a double layered membrane that separates the cell from the external environment.
  2. It controls the exchange with the environment outside the cell
  3. Encloses the cytoplasm
  4. Gases, water, and some small molecules pass through the membrane easily.
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8
Q

Endoplasmic reticulum (ER)

A

A system of cytoplasmic membranes arranged into sheets and channels whose function it is to synthesize and transport gene products. Folds, sorts, and ships proteins. RER outer surface is covered with ribosomes.

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9
Q

Ribosomes

A

Cytoplasmic particles that aid in the production of proteins

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10
Q

Golgi complex

A

Membranous cellular organelles composed of a series of flattened sacs. They sort, modify, and package proteins synthesized in the ER.

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11
Q

Lysosomes

A
  1. Membrane-enclosed organelles in eukaryotic cells that contain digestive enzymes.
  2. Bud off from the Golgi
  3. Processing and recycling center of the cell
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12
Q

Mitochondria (singular:mitochondrion)

A
  1. Membrane bound organelles, present in the cytoplasm of all eukaryotic cells, that are the sites of energy production.
  2. Allows the cell to power many of its biochemical reactions
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13
Q

Nucleus

A
  1. The membrane bound organelle in eukaryotic cells that contains the chromosomes.
  2. Bounded by a double bound membrane called the nuclear envelope
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14
Q

Nucleolus (plural:nucleoli)

A

A nuclear region that functions in the synthesis of ribosomes.

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15
Q

Chromatin (2)

A
  1. The DNA and protein components of chromosomes, visible as clumps or threads in Nuclei. 2. Chromatin is the raw material that makes up chromosomes (DNA and histones proteins), it is visible as clumps or threads in nuclei. It condenses to form condensed chromosomes when a cell prepares to divide.
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16
Q

Sex chromosomes

A

In humans, the X and Y chromosomes that are involved in sex determination.

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17
Q

Chromosomes (2)

A
  1. The threadlike structures in the nucleus that carry genetic information. 2. A Chromosome is made up of chromatin, they are long strands of DNA + histones (proteins) of varying lengths. (46 total)
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18
Q

Autosomes

A

Chromosomes other than the sex chromosomes. In humans, chromosomes 1-22 are Autosomes .

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19
Q

Cell cycle

A

The sequence of events that takes place between successive cell divisions.

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20
Q

Interphase

A

The period of time in the cell cycle between mitotic divisions.

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21
Q

G1

A
  1. Organelles are synthesized to replace organelles distributed to other daughter cells during separation of the cytoplasm.
  2. The cell is growing into a parent cell
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22
Q

S phase

A
  1. DNA is replicated

2. Chromosomes form sister chromatids (no centromere)

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23
Q

G2

A
  1. Mitochondria divide
  2. Spindle fibers are synthesized
  3. Rest phase
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24
Q

Mitosis

A

Form of cell division that produces two cells, each of which has the same complement of chromosomes as the parent cell.

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25
Q

Cytokinesis

A

The process of cytoplasmic division that accompanies cell division.

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26
Q

Prophase

A
  1. Chromosomes form into a recognizable state, they start to condense
  2. A stage in mitosis during which the chromosomes become visible and contain sister chromatids joined at the centromere.
  3. Nuclear envelop breaks down
  4. Spindle fibers form in cytoplasm and stretch across the cell
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27
Q

Metaphase

A
  1. Begins when chromosomes with spindle fibers attached move to the middle, or equator of the cell.
  2. Chromosomes in most tightly condensed form
28
Q

Anaphase

A
  1. Centromeres divide, converting each sister chromatid into a chromosome.
  2. Chromosomes start migrating toward opposite ends of the cell and 46 complete set of chromosomes at each end.
29
Q

Telophase

A

The last stage of mitosis, during which the chromosomes of the daughter cells decondense and the nucleus re-forms.

30
Q

Spindle equator (metaphase plate)

A

An imaginary plane perpendicular to the spindle fibers in a dividing cell, along which chromosomes align during metaphase.

31
Q

Meiosis

A

The process of cell devision during which one cycle of chromosomal replication is followed by two successive cell divisions to produce four haploid cells .

32
Q

Meiosis I

A

diploid cells (2n) undergo replication and then 2 rounds of division yielding haploid (n) gametes.

33
Q

Prophase 1

A

Chromosomes become visible, associate into homologous pairs & line up in either orientation.

34
Q

Metaphase 1

A

They line up as pairs along the midline completely at random.

35
Q

Anaphase 1

A

sister chromatids are not torn apart. The homologous pairs
have been separated from each other.

36
Q

Telophase 1

A

Chromosomes uncoil, become dispersed

37
Q

Meiosis 2

A

same thing as mitosis

38
Q

Chromatid

A

One of the strands of duplicated chromosomes, joined by a single centromere to its sister chromatid.

39
Q

Sister chromatids

A

Sister chromatids are two identical (by replication) chromatids joined by a single centromere (one chromosome).

40
Q

Centromere

A

A region of a chromosome to which spindle fibers attach during cell division. The location of a centromere gives a chromosome it’s characteristics shape.

41
Q

Diploid (2n)

A

The condition in which each chromosome is represented twice as a member of a homologous pair.

42
Q

Haploid (n)

A

The condition in which each chromosomes is represented once in an unpaired condition.

43
Q

Homologous chromosomes

A

Chromosomes that physically associate (pair) during meiosis. Homologous chromosomes have identical gene loci.

44
Q

Assortment

A

The result of meiosis I that puts random combinations of maternal and paternal chromosomes into gametes.

45
Q

Crossing over

A

A process in which chromosomes physically exchange parts.

46
Q

Allele

A

One of the possible alternative forms of a gene, usually distinguished from other alleles by its phenotypic effects.

47
Q

Spermatogonia

A

Mitotically active cells in the gonads of males that give rise to primary spermatocyte.

48
Q

What advantages are there in having the interior of the cell divided into a number of compartments such as the nucleus, the ER, lysosomes, and so forth?

A

The compartment ability of the interior cellular organelles is a means of organization related to the organelles function. The specific job each organelle is responsible for is maintained through this organization and is under genetic control. Genetic disorders cause changes in cellular structure and function.

49
Q

How many Autosomes are present in a body cell of a human being? A gamete?

A

There are 44 Autosomes in the human body (non sex chromosomes). b There are 2 sex chromosomes in a male, XY, and 1 sex chromosome in a female, XX. A gamete has 22.

50
Q

Human haploid gametes (sperm and egg) contain (chromosomes and chromatids?

A

23 chromosomes, 23 chromatids

51
Q

a. What is meant by the term cell cycle? b. What is happening in the S phase? c. The M phase?

A

a. the term “cell cycle” is describing the change and function of the cell to divide and replicate it self. The cell cycle alternates between two states, division and non-division, the sequence of events from one division to the next is called the cell cycle. b. the S phase describes the interval (of Interphase) where the DNA replicates (chromosomes are duplicated). c. The M phase (mitosis) describes the division of the complete set of chromosomes. It produces two identical cells that contain a complete set of chromosomes as from parent cell.

52
Q

In the cell cycle, at which stages do two chromatids make up one chromosome?

A

beginning of G2, beginning of mitosis

53
Q

Does the cell cycle refer to mitosis as well as meiosis?

A

Yes

54
Q

Identify the the stages of mitosis and describe the events taking place at each stage

A

mitosis = 4 stages
Prophase: stage 1: chromosomes condense and become recognizable as long intertwined threads. Chromosomes become shorter and thicker, sister chromatids are recognizable. The nuclear envelope breaks down, spindle fibers form in cytoplasm and stretch across to the cell.
Metaphase: chromosomes with attached spindle fibers move to the middle equator of the cell (46 centromeres attached to two sister chromatids).
Anaphase: centromeres divide, each sister chromatid is converted in a chromosome. Chromosomes migrate toward opposite ends of the cell, complete set of 46 chromosomes at each end.
Telophase: chromosomes in opposite ends start to uncoil, spindle fiber break down, the endoplasmic reticulum begins to form new nuclear envelope. Mitosis is complete.

55
Q

Why is cell furrowing important in cell division? If cytokinesis did not occur, what would be the end result?

A

the first visible sign of cytokinesis (division of the cytoplasm) is the formation of a constriction called a cleavage furrow at the equator of the cell. This constriction tightens the contraction of filaments under the plasma membrane and the cell divides in two. Organelles are distributed to the daughter cells.

56
Q

A cell from a human female has just undergone mitosis. For unknown reasons, the centromere of chromosome 7 failed to divide. Describe the chromosomal contents of the daughter cells.

A

the daughter cells will have an unequal distribution of DNA (chromosomes pairs will be uneven) genetic disorders such as Roberts syndrome will result.

57
Q

During which phases of the mitotic cycle would the terms chromosome and chromatid refer to identical structures?

A

Prophase and Metaphase

58
Q

Describe the critical events of mitosis that are responsible for ensuring that each daughter cell receives a full set of chromosomes from the parent cell.

A

the metaphase stage in which the spindle fibers become attached to the two sister chromatids of each chromosome and their line up at the cells equator is a critical process in making sure each sister chromatid will be pulled apart correctly. In anaphase, the centromere must break correctly to ensure that each sister chromatid is pulled by the spindle fibers in the opposite direction, this will ensure sister chromatids end up in different daughter cells. The nuclear envelope in telophase will help keep chromosomes in their goal area.

59
Q

Differences in mitosis and meiosis

A

number of daughter cells produced: MIT.= 2 MEi.= 4
Number of chromosomes per daughter cell: MIT.= 46 MEI.= 23
Do chromosomes pair? MIT.= no MEI.= yes
Does crossing over occur? MIT.= no MEI.= yes
Can the daughter cells divide again? MIT.=yes MEI.= no
Do the chromosomes replicate before division MIT.= yes MEI.= yes
Type of cell produced MIT.= diploid MEI.= haploid

60
Q

describe mitosis and meiosis in terms of number codes

A

MIT.= 2n-2n2n<nnnn

61
Q

what is physically exchanged during crossing over?

A

the physical exchange of chromosomal parts between non-sister chromatids (prophase 1)

62
Q

provide two reasons why meiosis leads to genetic variation in diploid organisms?

A

the processes of assortment and crossing over in meiosis creates genetic variation in diploid organisms. Metaphase 1, random assortment leads to a combination rather than a complete set of maternal or paternal chromosomes. In prophase 1, crossing over further shuffles the combinations by exchanging alleles inherited from each parent so that the phenotypic effects in offspring are varied by a large degree.

63
Q

Spermatids

A

The four haploid cells produced by meiotic division of a primary spermatocyte.

64
Q

Oogonia

A

Cells that produce primary oocytes by mitotic division

65
Q

Secondary oocyte

A

The large cell produced by the first meiotic division.

66
Q

Oocyte

A

A cell from which an ovum developes by meiosis.

67
Q

Ovum

A

The haploid cell produced by meiosis that becomes the functional gamete.

68
Q

Polar bodies

A

Cells produced in the first and second meiotic division in female meiosis that contain little cytoplasm and will not function as gametes.

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