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Human Heredity > Chapters #1-3 > Flashcards

Chapters #1-3 Flashcards

1
Q
  • is a key to Biology. Biology is the study of living things.
  • The scientific study of Heredity
  • Geneticists study how traits and diseases are passed from one generation to the next
  • Understanding what genes are, how they are passed from one generation to the next, and how they work is essential to understanding life.
A

Genetics

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2
Q
  • The fundamental unit of heredity, made of DNA

- compromised of sequences of nucleotides contained on a double-stranded helical DNA molecule.

A

Gene

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3
Q
  • DNA is comprised of a polymer (linked string) of chemical subunits (basic unit of DNA structure)
  • made up of a base with phosphate and sugar.
A

nucleotides

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4
Q

four different type of nucleotides
-Combinations of these four nucleotides define which amino acids will be used to make specific proteins in the cell. Human’s have 20 different amino acids

A
  • Adenine (A) & Thymine (T)

- Guanine (G) & Cytosine (C)

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5
Q
  • Any observable property of an organism

- -Actions of gene products (proteins) produce visible traits such as eye color and hair color.

A

Trait

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6
Q

How many chromosomes do humans have

A

46 chromosomes which makes us a diploid formed from two haploids

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7
Q

Augustinian monk whose work on pea plants in the mid-1800’s provided the foundations for the science of genetics.

A

Gregor Mendel

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8
Q

where genes are contained, are found in the nucleus of human cells and other higher organisms, and is separated during formation of egg and sperm

A

chromosomes

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9
Q

-Study inheritance patterns and how traits are passed from generation to generation

A

Transmission Genetics

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10
Q

-Construction of family trees used to follow transmission of genetic traits in families (inheritance). The only way we can study humans is by construction a family tree.

A

Pedigree Analysis

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11
Q

the principle, originated by Gregor Mendel, stating that during the production of gametes the two copies of each hereditary factor segregate so that offspring acquire one factor from each parent. Also called Mendel’s first law

A

Law of Segregation

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12
Q
  • Study of the organization and arrangement of genes on a chromosome
  • Study of chromosome number and structure
  • area of genetics where chromosome structure and abnormalities are studied
A

Cytogenetics

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13
Q
  • A complete set of chromosomes from a cell that has been photographed during cell division and arranged by size in a standard order
  • The purpose of making this is to determine what the individual is
A

Karyotype

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14
Q

XX

XY

A

XX=Female

XY=Male

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15
Q

who determines the gender of the child

A

the father

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16
Q

how many chromosomes do Down syndrome have

A

47

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17
Q
  • Techniques whereby DNA fragments are linked to self-replicating vectors, which are replicated in a host cell, often bacteria
    • Genetically modified organisms
    • Carry and express genes from another species
A

Recombinant DNA Technology

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18
Q
  • Genetically identical molecules, cells, or organisms, all derived from a single source or parent
    • Gene therapy
    • Normal genes are transplanted into humans with defective copies to treat genetic diseases
A

Clone

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19
Q

-the misuse of genetics has affected social policy
-the attempt to improve the human species by selective breeding
-Early to mid-1900’s: US attempted to improve the population by preventing immigration and the introduction of less desirable traits
-Laws restricting reproductive rights and requiring certain individuals to be sterilized were instituted
-Used by Nazis in Germany to promote mass killings of individuals believed to be genetically inferior and ultimately genocide
-In the early part of the twentieth century, this exhibited at fairs and similar events were used to educate the public about the proposed
benefits of these policies.

A

Eugenics

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20
Q

the field of biology that studies the structure and function of genes at a molecular level and thus employs methods of both molecular biology and genetics

A

Molecular Genetics

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21
Q

experimental technique that uses genes to treat or prevent disease.

A

Gene Therapy

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22
Q

the haploid set of chromosomes in a gamete or microorganism, or in each cell of a multicellular organism

A

Genome

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23
Q

the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.

A

Genomics

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24
Q

study of genetic variation within populations, and involves the examination and modelling of changes in the frequencies of genes and alleles in populations over space and time

A

population genetics

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25
Q

the mistaken idea that human traits are determined solely by genetic inheritance, ignoring the contribution of the environment

A

hereditarianism

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26
Q

single nucleotide differences between and among individuals in a population or species

A

single nucleotide polymorphism

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27
Q

a set of genetic markers located close together on a single chromosome or chromosome region

A

haplotype

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28
Q

analysis of genetic variation across an entire genome searching for associations (linkages) between variations in DNA sequence and a genome region encoding a specific phenotype

A

genome-wide association study

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29
Q

The use of recombinant DNA technology to produce commercial goods and services

A

Biotechnology

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30
Q

A single nucleotide polymorphism alters DNA by only one ___

A

Nucleotide

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31
Q

basic research has a goal of understanding how something works. If Dr. Ralph uses a discovery resulting from basic research to produce a commercial product, he is performing what kind of research?

A

Applied research

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32
Q

If you believe the traits are determined only by what genes you have, you do not think that ___ has anything to do with the person you are.

A

environment

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33
Q

an event which occurs in prophase 1 of meiosis, but not prophase II is

A

synapsis of homologous chromosomes

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34
Q

An event that occurs in anaphase 1 of meiosis, but not anaphase II is

A

the separation of homologous chromosomes

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35
Q

Chromosomes are not usually visible in non-dividing cells because

A

they are highly uncoiled

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36
Q

Near the end of prophase, each chromosome can be seen to be composed of two

A

chromatids

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37
Q

The cell cycle stage called G1 is not important in normal development; if it did not occur, the cells resulting from mitosis would

A

become smaller with each successive division

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38
Q

Meiosis occurs in a diploid cell results in the formation of

A

four

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39
Q

each of the cells formed in meiosis contain the ___ number of chromosomes

A

haploid

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40
Q

By comparison, mitosis occurring in a diploid cell results int reformation of ___ cells each of which contain the ___ number of chromosomes

A

two; diploid

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41
Q

Lysososmes are cellular organelles that contain

A

digestive enzymes

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42
Q

With respect to the genetic information they carry, bone cells, nerve cells, and skin cells are all ___

A

identical

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43
Q

The statement in the previous question can be made because cells of different types are formed from the fertilized egg by the process of

A

Mitosis

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44
Q

controls the exchange of materials between the inside of the cell and the cell’s environment

A

plasma membrane

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45
Q

Of all the cells involved in the production of gametes, a ___ has the same chromosome content as a skin cell.

A

spermatogonia or oogonia

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46
Q

include small sugars and large polymers of sugars

A

Carbohydrates

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47
Q

consist of fats and oils, phospholipids and steroids

A

Lipids

48
Q

are polymers of amino acids and carry out a multitude of functions and activities

A

Proteins

49
Q

are polymers of nucleotides. They store and transfer genetic information in the cell

A

Nucleic acids

50
Q
  • A structure composed of two or more atoms held together by chemical bonds
    • The Plasma membrane encloses the cytoplasm which is a complex mixture of molecules and organelles
A

Molecule

51
Q

-Cytoplasmic membrane-enclosed structures that have specialized function

A

Organelle

52
Q
  • System of cytoplasmic membranes arranged into sheets and channels
    • Synthesizes and transports gene products
A

Endoplasmic Reticulum (ER)

53
Q

-Cytoplasmic particles that aid in the production of proteins

A

Ribosomes

54
Q
  • Membraneous organelles composed of a series of flattened sacs
    • Sort, modify and package proteins synthesized by the ER
A

Golgi Complex

55
Q

-Membrane bound organelles in eukaryotic cells that contain digestive enzymes

A

Lysosomes

56
Q
  • Membrane-bound organelles in the cytoplasm of all eukaryotic cells
    • Sites of energy production
A

mitochondria

57
Q
  • Threadlike structures in the nucleus that carry genetic information
    - 46 chromosomes (diploid number, 2n) are present in most human cells
A

chromosomes

58
Q

The membrane bound organelle in eukaryotic cells that contains the chromosomes

A

Nucleus

59
Q

A nuclear region that functions the synthesis of ribosomes

A

nucleolus

60
Q

The DNA and protein components of Chromosomes

A

chromatin

61
Q

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

A

Sex chromosomes

62
Q

Chromosomes other than sex chromosomes

A

Autosomes

63
Q

The sequence of events that takes place between successive mitotic divisions

A

Cell cycle

64
Q

The period of time in the cell cycle between mitotic division

A

interphase

65
Q

-form of cell division that produces two cells, each having the same complement of chromosomes as the parental cell.

A

Mitosis

66
Q

-The cytoplasmic division phase of cell division

A

Cytokinesis

67
Q
  • one strand of a duplicated chromosome

- Joined by a centromere to its sister chromatid

A

chromatid

68
Q
  • Region of chromosomes to which microtubule fibers attach during cell division
    • Centromere location gives a chromosome its characteristic shape
A

Centromere

69
Q
  • two chromatids joined by a common centromere

- Each carries identical genetic information

A

Sister Chromatid

70
Q

-Stage in mitosis when chromosomes become visible and contain sister chromatids joined at the centromere

A

Prophase

71
Q

-Stage in mitosis when chromosomes move and become arranged at the middle of the cell

A

metaphase

72
Q

-Stage in mitosis in which the centromeres split and daughter chromosomes begin to separate.

A

anaphase

73
Q
  • Last stage of mitosis
    • chromosomes of the daughter cells decondense
    • Nucleus reforms
A

telophase

74
Q

what we need to know about mitosis:

A
  • Mitosis and cell division is an essential process
    • Human cells are genetically programmed to divide about 50 times (known as Hayflick limit)
    • This limit allows growth to adulthood, and repairs such as wound healing
    • Alterations in the limits to cell division can lead to genetic disorders (such as premature aging) or to cancer.
75
Q
  • The Physical Exchange of Parts between chromosome pair in meiosis.
  • The process will produces new combinations of genes in offspring. For this reason it is impossible for any two children to be genetically identical (aside from identical twins).
A

crossing over

76
Q

A form of cell division that produces four haploid cells containing only one copy (paternal or maternal) of each chromosome

A

meiosis

77
Q

-Each chromosome is represented twice as a member of a homologous pair

A

diploid (2n)

78
Q

-Each chromosome is represented once, in an unpaired condition

A

haploid (1n)

79
Q
  • Maternal and paternal, with identical gene loci

- Chromosomes that physically pair during meiosis

A

Homologous Chromosomes

80
Q
  • Gametes receive random combinations of maternal and paternal chromosomes
    • Result of meiosis I
A

Assortment

81
Q

Sex cells (eggs and sperm)

A

gametes

82
Q

of maternal and paternal chromosomes in metaphase I. Chromosome pairs line up at random

A

Random Assortment

83
Q

How are humans formed?

A

by meiosis and crossing over

84
Q

One of the possible alternative forms of a gene. Usually distinguished from the rallies by its phenotypic effects

A

allele

85
Q

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

A

Spermatogonia

86
Q

The four haploid cells produced by meiotic division of a primary spermatocycte

A

spermatids

87
Q

Mitotically active cells that produce primary oocytes

A

oogonia

88
Q

The large cell produced by the first meiotic division

A

Secondary oocyte

89
Q

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

A

Polar bodies

90
Q

The haploid cell produced by meiosis that becomes the functional gamete

A

Ovum

91
Q
  • Pollen (male plant version of sperm)
    • Pollination (Bees, wind, and water help transfer pollen)
    • To Pollinate (when the pollen enters the stigmas of the female plant)
    • Offspring (F1-First generation)
A

crossing

92
Q

Male and female plants

A

cross pollinated plants

93
Q

Male is on top and female is on bottom

A

self pollinated plant

94
Q
  • Father of Chemistry

- Discovered genetics and heredity

A

Gregor mendel

95
Q

-Why do we begin examining inheritance by discussing Gregor Mendel and pea plants?

A

because he is the father of genetics

96
Q

-Trait expressed in the F1 (heterozygous) condition

A

dominant trait

97
Q

-Trait repressed in the F1 but re-expressed in some members of the F2 generation.

A

recessive trait

98
Q

-Observable properties of an organism (physical characteristics)

A

phenotype

99
Q

-The specific genetic constitution of an organism

A

genotype

100
Q

-Fundamental units of heredity

A

genes

101
Q

-Members of a gene pair separate from each other during gamete formation.

A

segregation

102
Q

-test determined to find phenotypes

A

test cross

103
Q

having identitcal alleles for one or more genes

A

homozygous

104
Q

carrying two different alleles for one or more genes

A

heterozygous

105
Q

The random distribution of alleles into gametes during meiosis

A

independent assortment

106
Q

The position occupied by a gene on a chromosome

A

locus

107
Q

use of a family history to determine how a trait is inherited and to estimate risk factors for family members

A

pedigree construction

108
Q

a diagram listing the members and ancestral relationships in a family; used in the study of human heredity

A

pedigree

109
Q

first affected family member who seeks medical attention for a genetic disorder

A

proband

110
Q

expression of a phenotype that is intermediate to those of the parents

A

incomplete dominance

111
Q

full phenotypic expression of both members of a gene pair in the heterozygous condition

A

codominance

112
Q

small sample sizes in experiments can introduce errors into the analysis of the results. to avoid these errors, Mendel used ___

A

large sample sizes

113
Q

One member in each pair of genes and one member in each pair of chromosomes is inherited from an individuals

A

parents

114
Q

A gene has multiple alleles. This means that ___

A

there are multiple possible phenotypes for that gene

115
Q

at a locus that has multiple alleles, the genotype of an individual can have a maximum of ___

A

2 alleles

116
Q

if a gene has three different alleles, there are ___ different genotypes possible

A

6

117
Q

genetic counseling may be desirable when

A

an individual risks passing on a disease to his or her offspring

Human Heredity (1 decks)

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