Exam 3 Flashcards

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1
Q

What is a zygote

A

The fertilized egg that develops into a new individual

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2
Q

Mosaicism

A

The presence of a genetically distinct cell populations within an organism

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3
Q

Gametes

A

Unfertilized germ cells

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4
Q

Sperm

A

Male gamete ( sex cell)

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5
Q

Oocyte

A

Female gamete ( sex cell)

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6
Q

Gonads

A

Organs where gametes are produced

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7
Q

Testes

A

Male gonads that produce spermatozoa and male sex hormones

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8
Q

Ovaries

A

Female gonads that produce oocytes and female sex hormones

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9
Q

Spermatogonia

A

The initial cells in spermatogenesis

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10
Q

Primary spermatocyte

A

Are produced by spermatogonia by mitosis

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11
Q

Follicle

A

In the ovary a developing egg is surrounded by an outer layer of follicles cells

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12
Q

Ovulation

A

Release of a secondary coyote from the follicle

Usually occurs monthly during a female reproductive lifetime

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13
Q

Oogenesis

A

The process of oocyte production

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14
Q

Oogonia

A

Cells that produce primary oocytes by mitotic division

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15
Q

Blastocyst

A

Hollow ball of cells

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16
Q

Trophoblast

A

Outer layer of cells

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17
Q

Inner cell mass

A

A ball of cells found inside the trophoblast that ultimately form the embryo

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18
Q

Endometrium

A

Enlarges and fills with blood/blood vessels

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19
Q

Chorion

A

Protective membrane form around the embryo

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20
Q

Human chorion gonadotropin

A

The main hormone that prevents rejection and are detected by home pregnancy tests.

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21
Q

Oxytocin

A

Stimulates muscular contractions, dilates the cervical opening and prepares mothers for birth

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22
Q

Breech birth

A

When another part of the body enters the birth canal other than the head

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23
Q

Teratogen

A

Any physical or chemical agent that brings about an increase in congenital malformation

Radiation, viruses, medications, alcohol

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24
Q

Fetal alcohol syndrome (fas)

A

A group of alcohol related birth defects that include physical and mental preambles

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25
Q

Sex ratio

A

The proportion of male to females, which changes throughout the life cycle

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26
Q

SRY gene

A

Sex determining region of the Y chromosomes

Located hear the end of the short arm of the Y chromosome

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27
Q

Complete androgen syndrome (CAIS)

A

An x-linked genetic trait that causes xy individual to phenotypic female

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28
Q

Swyer Syndrome

A

externally unambiguous female body but with dysgenetic, atypical, or abnormal gonads.

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29
Q

Gonadal Intersexuality

A

Broad term with many variations between male and female

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30
Q

5 alpha reductase deficiency

A

An autosomal genetic condition that causes individuals to develop the phenotype of females.

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31
Q

Dosage Compensation

A

balances the dose of X chromosome gene expression in females and males

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32
Q

Imprinting

A

A phenomenon in which expression of a gene depends on whether it is inherited from the mother or the father

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33
Q

Epigenetics

A

Inheritance of temporary chemical Modifications of DNA affecting gene expression patterns

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34
Q

X inactivation center (Xic)

A

is located on the proximal end of the p arm in humans, and its genetic expression occurs only on the X chromosome that is inactivated.

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35
Q

X-inactive specific transcript (XIST)

A

a gene that is critical to inactivation.

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36
Q

sex-influenced traits

A

an autosomal trait that is influenced by the presence of male or female sex hormones

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37
Q

sex-limited traits

A

Inherited by both males and females but expressed in only one sex

38
Q

pattern baldness

A

Acts like an autosomal dominant trait in males and an autosomal recessive trait in females.

Due to differences in testosterone levels.

39
Q

somatic mutation

A

occur in cells of the body that do not form gametes

Are not transmitted to future generations

40
Q

germ-line mutation

A

Occur in cells that produce gametes
Transmitted to future generations- inherited

41
Q

Mutation Rate

A

The number of events that produce mutated alleles per locus per generation

42
Q

Size of the gene

A

Larger genes have higher mutation rates

43
Q

nucleotide sequence

A

Presence of nucleotide repeats are associated with higher mutation rates

44
Q

Spontaneous chemical changes

A

C/G base pairs are more likely to mutate than A/T pairs

45
Q

What environmental agents cause mutations

A

Radiation and chemicals

46
Q

ionizing radiation

A

radiation that produces ions during interaction with other matter, including molecules in cells

47
Q

background radiation

A

radiation in the environment that contributes to radiation exposure

48
Q

Rem

A

The unit of radiation exposure used to measure radiation damage in humans.

It is the amount of ionizing radiation that has the same effect as a standard amount of X-rays.

49
Q

Millirem

A

A rem is equal to 1,000 millirems

50
Q

nucleotide substitutions

A

Involve replacing one or more nucleotides in a DNA molecule with other nucleotides

51
Q

Frameshift mutations

A

a number of bases (other than multiples of three) are added to or removed from DNA, causing a shift in the codon reading frame

52
Q

allelic expansion

A

increase in gene size caused by an increase in the number of trinucleotide repeat sequences.

53
Q

epigenetic trait

A

phenotype that is produced by epigenetic changes to DNA

54
Q

Epigenome

A

Epigenetic state of a cell
Can change multiple times over the lifespan of the cell, depending on the environment

55
Q

proliferation

A

Uncontrolled cell division

56
Q

metastasis

A

metastasis
The ability of these cells to spread to other sites in the body

invasive and spreads

57
Q

Benign

A

Non -invasive

58
Q

mutator phenotype

A

high level of genomic instability in cancer cells

59
Q

genomic instability

A

an increased tendency of the genome to acquire mutations when various processes involved in maintaining and replicating the genome are dysfunctional

60
Q

Sporadic cancer

A

Cancer caused by accumulation of a number of mutations in somatic cells

Mutation occurs in a single somatic cell

61
Q

Inherited cancer syndromes

A

Inherited mutant genes cause a predisposition to cancer
* Mutations are carried in all cells in a heterozygous state
* The normal allele is lost in the cancer cell (loss of
heterozygosity)

62
Q

G1/ S

A

checkpoints monitor cell size and determine whether DNA has been damaged

63
Q

G2/ M

A

Physiological conditions are checked (once G1/S are passed) prior to mitosis

64
Q

M

A

the formation of the spindle-fiber system and the attachment of spindle fibers to the kinetochores associated with the centromeres are monitored

65
Q

Proto- oncogenes

A

are genes whose products promote cell growth and division.

66
Q

tumor suppressor genes

A

Regulate cell-cycle checkpoints and initiate process of apoptosis

67
Q

tumor suppressor genes

A

Regulate cell-cycle checkpoints and initiate process of apoptosis

68
Q

Oncogenes

A

genes that induce or continue uncontrolled cell proliferation

69
Q

familial retinoblastoma

A

familial retinoblastoma
Individuals inherit one mutant copy of RB1 gene
* 85% to 95% chance of developing the disease

70
Q

familial retinoblastoma

A

familial retinoblastoma
Individuals inherit one mutant copy of RB1 gene
* 85% to 95% chance of developing the disease

71
Q

Sporadic retinoblastoma

A

Mutations of both copies of RB1 gene occur in a
single cell
* Occurs with a frequency of approximately 1 in 15,000

72
Q

Microsatellites

A

DNA sequences, 2 to 9 nucleotides long, that are repeated thousands of times and located on many chromosomes

73
Q

Epidemiology

A

The study of factors that control the presence, absence, or frequency of a disease

74
Q

Cloning

A

The production of identical copies of molecules, cells, or organisms from a single ancestor

75
Q

embryo splitting

A

After in vitro fertilization, early embryonic cells are divided and grown into clones

76
Q

Nuclear transfer (cell fusion)

A

Enucleated eggs are fused with embryonic or adult cells and grown into clones
Dolly the sheep

77
Q

Recombinant DNA technology

A

A series of techniques in which DNA fragments are linked to self-replicating vectors to create recombinant DNA molecules, which are replicated in a host cell.

78
Q

Probe

A

a labeled nucleic acid used to identify a complementary region in a clone or genome by hybridization

79
Q

Southern Blot

A

A method for transferring DNA fragments from a gel to a membrane filter, developed for use in hybridization experiments

80
Q

Biotechnology

A

is the use of recombinant DNA and molecular biology to produce commodities or services

81
Q

enzyme replacement therapy

A

treats the disease by replacing the damaged or nonfunctional enzyme sourced from alternative sources

82
Q

Stem cells

A

unspecialized cells that are able to renew themselves for long periods of time by cell division

83
Q

Embryonic stem (ES) cells

A

form during the blastocyst stage of development.

84
Q

ES cells are

A

pluripotent- they can become any cell type except trophoblast cells

85
Q

Adult Stem (AS) cells

A

are derived from adult tissues and umbilical cord blood
Mainly divides and replaces worn out or damaged cells

86
Q

AS cells are

A

Multipotent they can become a limited set of cell types

87
Q

Artificial selection

A

Selection by humans for breeding of useful traits from the natural variation among different organisms

88
Q

what are the 3 main goals of transgenic animals research

A

produce an animal with symptoms that mirror those in humans

use the model to study the early stages of disease development and progression

test drugs to treat symptoms or cure the disease

89
Q

DNA Fingerprints

A

patterns of bands made up of specific fragments from an individuals DNA

90
Q

Microsatellites

A

short repetitive sequences found throughout genome