Cytogenetics Flashcards

1
Q

Complex multi-step process that is complete in 24 hours

The sperm from a male meets an ovum from a female and forms a zygote

A

Fertilization

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2
Q

Fertilized ovum

A

Zygote

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3
Q

The point in which pregnancy begins and leads to a 280-day journey for a female

A

Fertilization

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4
Q

Where the sperm and oocytes are manufactured

A

Gonads

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5
Q

The reproductive organs are organized similarly in the male and female. Each system has

A

Gonads

Tubular structure that transport these cells

Hormones and secretions that control reproduction

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6
Q

Originate in seminiferous tubules within the
testes

Also passes through the epididymis and ductus
deferentia, where they mature before exiting the
body through the urethra during sexual
intercourse

A

Male gametes

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7
Q

Originate in the ovaries.

Each month after puberty, one ovary releases
an oocyte into a uterine tube.

A

Female Gametes

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8
Q

Also called eggs, are female gametes

A

Oocytes

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9
Q

Packed, paired, oval organs of seminiferous
tubules

Male gonads

A

Testes

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10
Q

Testes lie outside the abdomen with a sac caleed

A

Scrotum

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11
Q

A tightly coiled tube in which sperm cells mature
and are stored.

A

Epididymis

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12
Q

Epididymis continues to another tube

Bends behind the bladder and joins urethra

A

Ductus deferens

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13
Q

Tube that carries sperm and urine out of the
body through the penis.

A

Urethra

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14
Q

What happens during sexual arousal

A

Penis becomes erect, which enables it to penetrate and deposit sperm in the female reproductive tract.

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15
Q

A pleasurable sensation.

A

Orgasm

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16
Q

Accompanied by rhythmic muscular contractions that eject the sperm from each ductus deferens (through urethra and the penis.)

A

Peak of sexual stimulation

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17
Q

What happens at the peak of sexual stimulation

A

Orgasm

Ejaculation

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18
Q

Discharge of sperm from the penis (delivers 200 to 600 million sperm cells)

A

Ejaculation

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19
Q

3 Glands that add secretion along the sperm’s path

A

Prostate gland

Seminal vesicles

Bulbourethral gland

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20
Q

The ductus derentia/deferens pass through this

Produce a thin, milky, acidic fluid that activates the sperm to swim

A

Prostate gland

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21
Q

Opening into the ducturs deferens’ a duct

Secrete ____ ( an energy-rich sugar) and hormonelike _____(stimulate contractions in the female that help sperm and oocytes meet)

A

Seminal vesicle

Fructose

Prostaglandins

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22
Q

Each about the size of a pea

For alkalinity of pH mucus

Join the urethra where it passes through the body wall

Secrete an alkaline mucus that coats the urethra before sperm are released.

A

Bulbourethral Gland

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23
Q

Female sex cells develop in paired organs in the abdomen

Female gonads

Houses oocytes in different states of development

A

Ovaries

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24
Q

Muscular, cadlike organ

Th uterine tube carries the ooctye in this organ

Its lower end narrows and leads to the _____

A

Uterus or the womb

Cervix

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25
Q

Opens into a tubelike vagina

A

Cervix

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26
Q

Where the oocyte (released from the ovary) fmay encounter the sperm

If the sperm enters the oocye, and the DNA of the 2 gametes merges into a new nucleus

A

Uterine Tube

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27
Q

After a day, the first cell divides while moving through the uterine tube.

Settles into a lining of the uterus to continue divinding and developing into an ____

A

Fertilized Ovum

Embryo

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28
Q

If zygote is not fertilized, it will be expelled through

A

Menstuation

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29
Q

Fertilized Ovum

A

Zygote

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30
Q

Contains two copies of the genome (diploid)

A

Somatic Cells

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30
Q

____ coordinate the monthly menstrual cycle

A

Hormones

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31
Q

Contains one copy of the genome from each parent (haploid)

A

Germ cells (Sex cells / Gametes)

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31
Q

One set of chromosomes n=23

Non homologous chromosome

A

Haploid

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32
Q

_____ > _____

A

Haploid cell > Egg and sperm

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33
Q

____ > Zygote

A

Diploid cells

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34
Q

Two set of chromosomes

Pairs of homologous (n=36)

A

Diploid (2n)

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35
Q

Sculpts the distinctive characteristics of sperm and oocyte

A

Mturation

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35
Q

Mixes up trait combination

Occurs after Interphase

Type of cell division, halves the chromosomes number

Where gametes form special cells called Germline cells

A

Meiosis

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36
Q

Replication of DNA

A

Interphase

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37
Q

Contribute 23 different chromosomes constituting one copy of the genome, to a fertilized ovum

A

Gametes

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38
Q

Contain 23 pairs of chromosomes = 46 in total

One member of each pair comes from the father

A

Somatic CElls

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39
Q

Also called as homologs

A

Homologous pair

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40
Q

Chomorsome pairs have some genes in the same order bu tmay carry different alleles, or variants, of the same genes.

A

Homologous pair

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41
Q

First division of the gfenetic material in Meiosis

Reduces the number of replicated chromosomes from 46 to 23

A

Reduction Division or Meiosis I

46 to 23

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42
Q

The homologs align down the center of the cell

Each member of homologous pair attaches to a spindle fiber at an opposite pole

A

Metaphase I

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42
Q

Produces four cells from the two cells formed in the first division by splitting the replicated chromosoomes

A

Equational Division or MEIOSIS II

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42
Q

During synapsis, the homologs
exchange parts called cross over.
● All four chromatids that comprise each
homologous chromosome pair align as
exchanges occur.
● After crossing over, each homolog bears
some genes from each parent.
● Prior to cross over, all of the genes on a
homolog were derived from one parent.
● Generates genetic diversity by
recombining genes, mixing parental
traits.
● The capital and lowercase forms of the
same letter represent different variants (alleles) of the
same gene.

A

Cross over

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43
Q

Homologs move to opposite poles

A

TElophase I

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43
Q

Determines the combination of maternally and paternally derived chromosomes in the daughter cells.

A

Random alignment of chromosome during METAPHASE I

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44
Q

Homologs Separate

A

ANAHPHASE I

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45
Q

Chromosomes unfold into thin threads

Protein are manufactures, but DNA is not replicated a second time

A

Interphase II

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46
Q

The replicated chromosome align fown the center of the Cell

A

MEtaphase II

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47
Q

The centromeres part

The newly formed chromosomes (unreplicated form), move to opposite poles

A

Anaphase II

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47
Q

Marks the start of the second meiotic division

Chromosomes are again condensed and visible

A

Prophase II

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48
Q

Used for sexual reproduction, producing new gene combinatiuon

A

Meiosis

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48
Q

one division

Two daughter cells per cycle

Daughter cells genetically identical

A

Mitosis

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48
Q

Nuclear envelopes form around th four nuclei, which then separate into individual cells

A

Telophase II

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49
Q

Two divisions

Four daughter cells per cycle

Daughter cells genetically different

1n

germline cells

Sexual Maturity

A

Meiosis

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49
Q

Used for groth, repair, and asexual reproduction

A

Mitosis

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50
Q

The forming gametes of the maturing male and female
proceed through similar stages, but with sex-specific
terminology and vastly different timetables.

A male begins manufacturing sperm at puberty and
continues throughout life.

A

Gametes Mature

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51
Q

Two types of gametes mature

A

Spermatogenesis
Oogenesis

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52
Q

Must travel about 18
centimeters (7 inches)
to reach an oocyte.

Consists: Tail, body or
midpiece, and a head
region

A

Sperm

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52
Q

Formation of sperm cells

Also called sperm formation

A

Spermatogenesis

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53
Q

Has distinct regions that assist in delivering DNA to an oocyte

0.006 centimeter (0.0023 inch) long

A

Sperm

54
Q

Within the
___, DNA
wraps around
proteins (but
genetically
inactive)

A

head

55
Q

Membrane-covered
area on the front end of the sperm

Contains enzymes that help the sperm cell
penetrate the protective layers around the
oocyte.

A

Acrosome

56
Q

Where spermatogenesis begin

A diploid stem cell

A

Spermatogonium

56
Q

One cell: continues to specializes into a ____

A

Mature Sperm

57
Q

Other cells: remain a ____ (able to self-renew and continually produce more sperm)

A

Stem cell

58
Q

As spermatogonia mature, they accumulate cytoplasm
and replicate their DNA, becoming ____

A

Primary Spermatocytes

59
Q

Meiosis I: Each primary spermatocyte divides >
forms two equal-sized haploid cells called

A

Secondary Spermatocytes

60
Q

Each secondary spermatocytes
divides to two equal-sized spermatids > each
develops _____ or flagellum (has many
mitochondria to propel the sperm by splitting
ATP to release energy)

A

Sperm tail

61
Q

Concentrates most of the cytoplasm into a one
large cell called an ___ (or egg)

A

Oocyte

62
Q

Other products called polar bodies contain the
other ____ sets of chromosomes and normally
degenerate.

A

three

63
Q

Also called Ovum formation

Primary oocytes have the diploid number of 23
chromosome pairs.

A

Spermatid Differentiation

64
Q

An event after puberty where in the most mature
oocyte in one ovary bursts out each month

A

Ovulation

65
Q

A cell where most of the cytoplasm among the
four meiotic products in the female ends up in.

A

Ovum

66
Q

A diploid cell where oogenesis begins

Unlike male cells, oogonia are not attached to each other

Surrounded by follicle cells each

As it grows, cytoplasm accumulates, DNA replicates, the
cell becomes a primary oocyte.

A

Oogonium

67
Q

Produces cells of different sizes to ensue meiotic division

A

Oogonium

68
Q

Primary oocyte divides into two cells > (1) small cell with very little cytoplasm called first ____ ___, (2) a larger cell called secondary oocyte

A

Polar body

69
Q

Tiny first polar body divide to yield two polar bodies of equal size (with unreplicated chromosomes) or decompose > secondary oocyte divides unequally to produce another small polar body (with unreplicated chromosomes)

A

MEIOSIS II

70
Q

Type of miscarriage

A rare case of when the sperm fertilizes a polar body.

In this case, the woman’s hormones respond as if she is
pregnant, but a disorganized clump of cells that is not an embryo grows for a few weeks (but also leaves the woman’s body)

A

Blighted Ovum

71
Q

A female ovulates about 400 oocytes between puberty
and menopause.

Only one in three of the oocytes that do meet and merge
with a sperm cell will continue to grow, divide, and specialize to eventually form a new individual.

A

blighted ovum

72
Q

A prenatal human for the first 8 weeks, when rudiments of all body parts form.

A

Embryo

73
Q

To be considered an embryo if it begins to develop tissue layers at about ___ weeks.

A

2

74
Q

In the first week, the embryo is in a “______” stage because it has not yet settled into the uterine lining

A

Preimplantation

75
Q

Occurs after the eighth week of prenatal
development.

Where structures grow and specialize

From the start of the ninth week until birth, the prenatal human organism is the fetus.

A

Fetal Period

76
Q

Also called as conception.

A

Fertilization

77
Q

A sperm cell can survive in a woman’s body for up to __ days

A

3

78
Q

A process where the woman’s body helps sperm reach an oocyte.

Chemically activates sperm, and the oocyte secretes a chemical that attracts sperm

A

Capacitation

79
Q

A covering of follicle cells that the sperm first contacts

Guards a secondary oocyte

A

Corona Radiata

80
Q

Begins when the outer membranes of the sperm and
secondary oocyte meet and a protein on the sperm head
contacts a different type of protein on the oocyte.

Induces the oocyte (arrested in metaphase II) to complete meiosis

A

Fertilization

81
Q

When the sperm’s acrosome then bursts, it releases enzymes that bore through a protective layer of _____ (the zona pellucida) beneath the corona radiata

A

Glycoprotein

82
Q

Within 12 hours of sperm penetration, the ovum’s nuclear
membrane disassembles, and the two sets of chromosomes (called ____) approach one another

A

Pronuclei

82
Q

From ovulation to implantation

A beginning period of frequent cell division that occurs a day after fertilization where the zygote is divided by mitosis

A

Cleavage

82
Q

It completes when the two genetic packages meet and merge, forming the genetic instructions for a new individual.

A

Fertilization

83
Q

During this period, organelles and molecules from the secondary oocyte’s cytoplasm still control cellular activities, but some of the embryo’s genes begin to function

Creates Blastocyst

A

Cleavage

83
Q

Resulting early cells

Forms a solid ball of sicteen or more cells, the embryo is called a ____

A

Blastomeres

Morula

84
Q

Morula came from Latin form “_____”, which it resembles

A

Mulberry

85
Q

The outermost cells of the blastocyst

Secretes human Chorionic gonadotropin, a hormone that prevents menstruation

A

Trophoblast

85
Q

A formed clump on the inside lining of some cells.

Its formation is the first event that distinguishes cells from each other by their relative positions.

When it continues developing, it forms the embryo.

A

Inner cell mass

86
Q

Occurs after a week after fertilization where the blastocyst nestles into the uterine lining.

Takes about a week

A

Implantation

87
Q

What is hCG

A

Human Chorionic Gonadotropin

88
Q

This hormone is detected in a
woman’s urine or blood as
one sign of pregnancy

A

Human Chorionic gonadotropin (hCG)

89
Q

Mother tends to have 2 mature oocytes, this is called ___

A

Heteropaternal Superdecundation

90
Q

Fraternal occurs about ___

A

2.4%

91
Q

During the second week of prenatal development, a space called the amniotic cavity forms between the inner cell mass and the outer cells anchored to the uterine lining.

Then the inner cell mass flattens into a two-layered embryonic disc.

A

Embryo Formation

92
Q

Germ layers of Embryonic Development

A

Ectoderm
Mesoderm
Endoderm

93
Q

Layer neearest the amniotic cavity

A

Ectoderm

93
Q

Ectoderm forms the ff organs:

A

Nervous system
Skin

94
Q

Third layer
Forms in the middle

A

Mesodorm

95
Q

Mesodorm forms the ff organs:

A

Muscle
Skeleton
Kidneys
Reproductive system

96
Q

Inner layer, closer to the blastocyst cavity.

A

Endoderm

97
Q

Endoderm forms the ff. organ:

A

Endocrine glands
Lungs
Digestive tract
Liver

98
Q

Three-layered, curved, sandwich-like structure
Also called the primordial embryo

A

Gastrula

99
Q

Epidermis of skin and epidermal derivatives, hair, nails, glands of the skin, lining of cavities

A

Ectoderm

99
Q

Dermis of skin: dentin of teeth
Epithelium of blood vessels, lumphatic vessels, cavities

A

Mesoderm

99
Q

Epithelium of pharynx, auditory canal, tonsils, thyroid, parathyroid, thymus, larynx, trachea, lungs, digestive tract

A

Endoderm

99
Q

Stages and Events of early human prenatal development

A

Fertilized ovum
cleavage
Morula
Blastocyst
Gastrula

100
Q

12 to 24 hours following ovulation

Oocyte fertilized; zygote has 23 pairs of chromosomes and is genetically distinct

A

Fertilized ovum

101
Q

30 hours to third day

Mitosis increase cell number

A

Cleavage

102
Q

Third to fourth day

Solid ball of cells

A

Morula

103
Q

Formed from the chorionic villi by 10 weeks.

Links the woman and her fetus for the rest of the pregnancy.

It secretes hormones that maintain pregnancy and sends nutrients to the fetus.

A

Placenta

103
Q

Fifth day through second week

Hallowed fluid-filled ball forms trophoblast (outside) and inncer cell mass, which implants and flattens to form embryonic disc

A

Blastocyst

104
Q

End of second

Primary germ layers form

A

Grastula

105
Q

During the second week of prenatal development, a space called the amniotic cavity forms between the inner cell mass and the outer cells anchored to the uterine lining.

Then the inner cell mass flattens into a two-layered embryonic disc.

A

Chorionic villi

106
Q

Project into pools of the woman’s blood.

Blood system and the embryo’s are separate, but nutrients and oxygen diffuse across the chorionic villi from circulation to the embryo.

A

Chorionic villi

107
Q

A membrane surrounding the embryo that gives rise to the umbilical blood vessels

A

Allantois

107
Q

Manufactures blood cells, as does the allantois

A

Yolk Sac

108
Q

Forms around vessel and attaches to the center of the placenta

A

Umbilical cord

109
Q

Swells with fluid toward the end of the embryonic period while the yolk sac shrinks.

Cushions the embryo and maintains a constant temperature and pressure

A

Amniotic sac

110
Q

The ____ contains fetal urine and a few fetal cells.

A

Amniotic acid

111
Q

Examines chromosomes from cells snipped off the chorionic villi at 10 weeks.

A

Chorionic villus sampling

112
Q

Secreted from the stem cells that give rise to lung cells

Should be present in alveoli

Measure in which the baby for the baby to breathe

A

Surfactant

112
Q

A sample of amniotic fluid is taken and fetal cells in it are examined for biochemical, genetic, and chromosomal anomalies.

A

Amniocentesis

113
Q

Prenatal Tests

A

Chorionic villus sampling
Amniocentesis
Analysis of cell-free DNA

114
Q

Types of Identical Twin

A

Fraternal; or dizygotic (DZ), twins
Identical, or monozygotic (MZ), twins

114
Q

Twins, and other multiple arise early in development

This can happen if ovulation occurs in two ovaries in the
same month or if two oocytes leave the same ovary and are both fertilized.

A

Formation of Multiples

115
Q

Descend from a single fertilized ovum and therefore are genetically identical. They are natural clones

A

Identical, or monozygotic (MZ), twins

115
Q

Result when two sperm fertilize two secondary oocytes.

These twins develop their own amniotic sacs, yolk sacs, allantois, placentas, and umbilical cords.

A

Fraternal, or dizygotic (DZ), twins

116
Q

Certain genetic abnormalities or toxic exposures can affect development in an embryo or fetus, causing birth defects.

A

Birth Defects

117
Q

The time when genetic abnormalities, toxic substances, or viruses can alter a specific structure is its critical period.

Many birth defects are caused by toxic substances the pregnant woman encounters.

A

The critical period

118
Q

Chemicals or other agents that cause birth defects are called ____

A

Teratogens

119
Q

Teratogens came from the Greek word for ____

A

monster-causing

120
Q

Most drugs are not teratogens. Whether or not exposure to a particular drug causes birth defects may depend upon a woman’s genes.

A

Teratogens

121
Q

Gene Variant of Teratogens

A

MTHFR C677T

122
Q

A malnourished fetus has intrauterine growth retardation
(IUGR), and though born on time, is quite small. Premature infants, in contrast, are small but are born
early, and are not predisposed to conditions resulting from IUGR.

A

Adult onset inherited disease

123
Q

Means moving through the life cycle, despite advertisements for products that promise to reverse the process.

A

Aging

124
Q

As we age, the limited life spans of cells are ___ in the waxing and waning of biological structures and functions.

A

Reflected

125
Q

A component of red wine, dark chocolate, and raspberries.

A

Resveratrol

126
Q

Protect against:
Hypertension, diabetes, cardiovascular disease

A

Apoliprotein C3 (APOC-3)

126
Q

Type of enzyme called ___ that regulates energy use in cells by altering the expression of certain sets of genes

A

sirtuin

126
Q

Types of genes that affect longetivity control:

A

Immune system functioning

Insulin secretion and glucose metabolism

Response to stress

The cell cycle

DNA repair

Lipid (including cholesterol) metabolism

Nutrient metabolism; and
Production of antioxidant enzymes

126
Q

Seems to prevent or delay several
diseases that are more common in the aged, such as ____

A

heart disease and neurodegenerative conditions

127
Q

Protects against:
Poisoning, digestive problems

A

Bitter taste recepror (TAW2R16)

128
Q

Protects against:
Cardiovascular Disease

A

Cholesteryl ester transfer protein (CETP)

129
Q

Protects against:
Cancer, cardiovascular disease

A

Forkhead box O3 (FOXO3)

130
Q

Protects against:
Diabetes, cancer

A

Growth Hormone Receptor (GHR)

130
Q

Protects against:
Oxidative damage, poor energy se

A

Uncoupling proteins (UCP 2,3,4)