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Introduction To Development Test 1 > Chapter 3 - The New Genetics > Flashcards

Chapter 3 - The New Genetics Flashcards

1
Q

Chromosomes

A

Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). In humans, each cell contains 23 pairs of chromosomes, for a total of 46.

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2
Q

Genes

A

the basic unit for transmitting heredity (the passing on of physical or mental characteristics genetically from one generation to another)

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3
Q

Humans have __ chromosomes

A

46 (23 pairs)

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4
Q

Humans have about __ genes

A

25,000

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5
Q

Meiosis

A

the biological process of sex cell division resulting in gametes that have 23 chromosomes, which is half the amount of genetic material normally seen in a human cell. This is because it matches up with the other parents cell.

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6
Q

Mitosis

A

the biological process of cell division resulting in bodily cells that are exact copies of their parent cells and have a full set of 46 chromosomes.

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7
Q

Gamete

A

A reproductive cell. A sperm or ovum that can produce a new individual if it combines with a gamete from the other sex to make a zygote

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8
Q

How many chromosomes does a baby get from their mom, and how many from the dad?

A

23 from each parent

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9
Q

Karyotype

A

the number and visual appearance of the chromosomes in the cell nuclei of an organism or species.

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10
Q

Autosomes

A

The first 22 pairs of chromosomes

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11
Q

The 23rd pair of chromosomes are the?

A

Sex chromosomes

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12
Q

Genotype

A

one􏰀s complete set of genes

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13
Q

phenotype

A

the actual appearance and behavior of a person, and occurs because some instructions on the genotype are ignored, and others amplified.

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14
Q

What is a polygenic trait?

A

refers to inherited traits that are influenced by many genes, rather than by a single gene

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15
Q

dominant-recessive pattern

A

he influence of one gene in the allele is greater than the other gene.

i.e. blood types A and B and brown eyes result from dominant genes.

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16
Q

X-Linked recessive inheritance

A

a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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17
Q

Pairs of alleles can be either ____ or ____

A

homozygous (same gene) - an individual inherits the same alleles for a particular gene from both parents
heterozygous (different gene i.e. blue from one parent, brown from another) - its cells contain two different alleles of a gene

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18
Q

Dominant allele

A

its chemical instructions are followed

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19
Q

Recessive allele

A

its chemical instructions are ignored

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20
Q

Incomplete dominance

A

one allele doesn’t dominate the other completely. Blending of parental traits. Red Flower / White Flower = Pink Flower

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21
Q

Codominance

A

One allele doesn’t dominate the other – they co-exist (appear together).

i.e.
Blood Type

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22
Q

What is the difference between incomplete dominance and and codominance?

A

Blending versus coexisting

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23
Q

What blood types are codominant?

What blood types are recessive?

A

A allelle and B allele

O allele

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24
Q

Human genome

A

the code for making a human being

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25
Q

the human genome is __% the same for any 2 people.

A

95.5%

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26
Q

when does development begin?

A

at conception, when the sperm penetrates the ovum.

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27
Q

when the sperm penetrates the ovum, what is created?

A

a zygote

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28
Q

The genotype of the zygote is the?

A

genetic information on the 23 chromosome pairs.

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29
Q

The blastocyst has a raised area in the middle called the ____ ____

A

embryonic disc

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30
Q

Zygote duration

A

Fertilization to 2 weeks

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31
Q

Embryo duration

A

3 to 8 weeks

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32
Q

Fetus duration

A

9 weeks to birth

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33
Q

What comes first, Sexual Differentiation or Sexual Determination?

A

Sexual Determination

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34
Q

Sexual Differentiation

A

The process of becoming female or male

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35
Q

Sexual Determination

A

when the maternal and paternal chromosomes join and create zygotes which are either XX or XY

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36
Q

What determines gonadal (testicles/ovaries) sex?

A

chromosomal sex

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37
Q

depending on what your exposure to the hormones are, a child can either be more or less ____

A

masculine

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38
Q

What causes behavioral differences (sex wise)?

A

Morphological Differences in CNS

Effector Differences (muscles)

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39
Q

In mammals, ____ external genitalia is the ‘____’ sex

A

female, neutral

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40
Q

Additional steps are needed for male external genitalia. What does this mean?

A

more chances of error

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41
Q

In what ways are we sexually dimorphic?

A
  • size & shape
  • physiology
  • cognitive function
  • behaviour
42
Q

David Reimer story

A

David Reimer, an identical twin from Winnipeg whose penis was accidentally removed during a botched circumcision as a baby. John Money, was assigned to his case. His genitals were partially converted to female ones, female hormones were administered and Mr. Reimer was raised as a girl.

David Reimer revealed later, however, that he never felt like a girl. He committed suicide in 2004. His twin brother committed suicide a short time later

43
Q

Santhi Soundarajan

A

Has complete androgen insensitivity syndrome (cAIS) (you’re XY, you have testosterone, but you have no receptors in your body - not on your genitals, muscles etc.)

Won silver medal in 2006 Asian Games Was stripped of her medal after failing a sex test

44
Q

Chromosomal Sex

A

Most basic level – sex as it is determined by the sex chromosomes that They receive at birth.

45
Q

Gonadal Sex

A

The possession of either ovaries or testes

46
Q

Hormonal Sex

A

Females of most vertebrate species posses higher levels of estrogen to androgen ratios compared to males; males have the opposite pattern

47
Q

Morphological Sex

A

Differences in body type between males and females

i.e. breasts

48
Q

Behavioural Sex

A

Male-typical vs female-typical behaviours (females of most species often care for young, males often defend territory)

49
Q

Homogametic Sex

A

similarly shaped sex chromosomes – females (XX)

50
Q

Heterogametic Sex

A

differently shaped sex chromosomes – males (XY)

51
Q

Levels of determination

A

chromosomal sex (determined at conception) ➺ gonadal sex (determines hormonal environment) ➺ hormonal sex (mediates morphological development) ➺ morphological sex (leads to behavioral sex differences) ➺ behavioral sex

52
Q

Hormonal differentiation

A

your primordial gonalds either turns into testes or ovaries depending on the sex determining region Y (SRY) gene (found in Y chromosome)

53
Q

􏰄􏰄♀

A

Mullerian

54
Q

♂

A

Wolffian Duct

55
Q

Mullerian inhibiting substance can be seen as?

A

Spray that removes weeds

56
Q

How does a male XY develop?

A

⇝Primordial gonalds develop into testes
⇝Mullerian inhibiting substance causes the mullerian system to wither away
⇝Androgens develop a wolffian system
⇝Primordial external genitilia develops into penis and scrotum

57
Q

How does a female XX develop?

A

⇝Primordial gonalds develop into ovaries
⇝Mullerian system develops into fallopian tubes, uterus etc.
⇝Wolffian system without androgens withers away
⇝Primordial external genitilia develop into clitoris, labia and outer vagina

58
Q

testis determining factor

A

a protein encoded by the sex determining region Y (SRY) gene

59
Q

Turners Syndrome

A

there is partial or complete absence of one of the 2-X chromosomes in a phenotypic female

During the process in which eggs or sperm are formed, one of the sex chromosomes are
lost, an embryo receiving only a Y-chromosome cannot survive, but an embryo receiving
only a X-Chromosome may survive and develop as a female with Turners

60
Q

Congenital Adrenal Hyperplasia

A

adrenal glands produce stress hromones, but also androgens

someone with CAH their adrenals produce way too much androgens

61
Q

Androgen Insensitivity Syndrome - Partial vs. Complete

A

no receptors or some receptors

62
Q

Klinefelter Syndrome

A

Extra x-chromosome

(XXY) – Because the Y gene is present – the sex determining region Y (SRY) gene is expressed and activates masculinization – therefore they are sexed as males at birth (Y causes release of anti mullerian hormone)

Usually sterile because of low sperm production

Penis does not grow, voice does not deepen, breasts may develop

63
Q

Jocob’s Syndrome

A

Extra y-chromosome

(XYY) Male at birth, but sterile. Male prisoners have a disproportionately higher rate of XYY

Impaired language skills

64
Q

Having an extra Y chromosome was thought to contribute to increased aggression/criminal activity (many prisoners have it), was this true?

A

NOPE: they have lower intelligence and are very tall = easier to get caught and more easily identifiable

65
Q

Perinatal androgens most common cause of abnormal sexual differentiation

A
  1. Endogenous (within the body)
  2. Exogenous (i.e. Bisphenol A (BPA) has fidoestrogen which means it mimics estrogen)
    rats couldn’t get pregnant when they drank from plastic water bottles which has BPA

disrupts female system
and introduces high levels of estrogen into their system)

66
Q

Additivegenes

A

combine to make a phenotype.

The inherited genes from mother and from father are added together. However, some additive genes get enhanced by other genes, making their input greater.

i.e. Curly hair, skin colour, height

67
Q

Dizygotic (fraternal) twins

A

result from two sperm penetrating two ova, and share 50% of their genes.

68
Q

Monozygotic (identical) twins

A

originate from one zygote, and share 100% genes.

69
Q

How are monozygotic twins made?

A
  • early embryo splits before implanting in womb
  • early embryo implants in womb and then splits
  • early embryo implants in womb and then splits later
70
Q

What do you need for dizygotic twins?

A
  • 2 chorions

- 2 amnions

71
Q

The likelihood of multiple births vary by ____ and

____

A

age and ethnicity

72
Q

Why are we more likely to have twins as we age?

A

We tend to hyper-ovulate

73
Q

Do identical twins run in the family?

A

No

74
Q

Highest and lowest rates of twins?

A

Highest: Africa
Lowest: Asia/South America

75
Q

Hazards of multiples include:

A

birth complications, low birth weight, death, disease, and disabilities.

76
Q

Genes have been found to influence several disorders, including:

What else plays a key role in these disorders?

A

Schizophrenia
Addiction
Nearsightedness
Diabetes

Environment

77
Q

Chromosomal abnormalities

A

when the zygote􏰀s cells have fewer or more chromosomes than 46.

78
Q

What is the most common correlate of chromosomal abnormalities?

A

Maternal age

Older mother = older ova

79
Q

Down syndrome

A

when a zygote has 3 copies of chromosome 21 (a trisomy)

Sufferers experience mental slowness, faster aging, and physical problems.

80
Q

Down syndrome is also known as

A

Trisomy 21

81
Q

Huntington􏰀s disease

A

a fatal CNS disorder caused by a genetic miscode. It is inactive until middle adulthood

82
Q

Tourette syndrome

A

a dominant disorder, can lead to uncontrollable tics and obscenities.

83
Q

Genetic counseling provides facts. It is recommended for:

A

– Couples from the same ethnic group
– Individuals with a close relative with a genetic condition
– Couples with a history of infertility or miscarriage
– Women 35 or older, men 40 or older

84
Q

Zygote

A

is the single cell formed from the union of two gametes, a sperm and an ovum

85
Q

Deoxyribonucleic Acid (DNA)

A

A material present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information

86
Q

Allele

A

a variation that makes a gene different in some way from other genes for the same characteristics. Many genes never vary, others have several possible alleles

87
Q

Epigenetics

A

the study of how environmental factors affect genes and genetic expression

88
Q

Genome

A

the full set of genes that are instructions to make an individual member of a certain species

89
Q

What sex chromosome is bigger with more genes?

A

X

90
Q

Vanishing twin phenomenon

A

when you see 2 embryos at first, but only 1 continues to grow

91
Q

Infertility

A

failure to conceive a child after a year of trying

92
Q

Subfertile

A

when a couple is less fertile than ideal but not sterile

93
Q

Both sexes become less fertile every year starting at age __. Who has a deeper decline?

A

18, women

94
Q

Almost every trait is ____ (affected by many genes)

A

polygenic

95
Q

Recessive genes are not apparent unless the child happens to inherit the same recessive gene from?

A

Both parents

96
Q

____ are more likely to be carriers of X linked traits but are less likely to express them

A

females

97
Q

What leads to a recognizable syndrome?

A

If an entire chromosome is missing or added

98
Q

Characteristics if Trisomy 21?

A

Thick tongue
Round face
Slanted eyes
Distinctive hands/feet/fingerprints

Hearing problems
Heart abnormalities
Muscle weakness
Short stature

99
Q

Two rules that must be followed by genetic councillors

A

Tests are confidential

Decisions are made by clients

100
Q

Blastocyst

A

Bundle of cells into which a fertilized ovum divides

101
Q

adrenal glands produce stress hromones, but also androgens
someone with CAH their adrenals produce way too much androgens

What is this called?

A

Congenital Adrenal Hyperplasia

Introduction To Development Test 1 (14 decks)

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