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

Chapter 3 - The New Genetics Flashcards

(101 cards)

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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
the human genome is __% the same for any 2 people.
95.5%
26
when does development begin?
at conception, when the sperm penetrates the ovum.
27
when the sperm penetrates the ovum, what is created?
a zygote
28
The genotype of the zygote is the?
genetic information on the 23 chromosome pairs.
29
The blastocyst has a raised area in the middle called the ____ ____
embryonic disc
30
Zygote duration
Fertilization to 2 weeks
31
Embryo duration
3 to 8 weeks
32
Fetus duration
9 weeks to birth
33
What comes first, Sexual Differentiation or Sexual Determination?
Sexual Determination
34
Sexual Differentiation
The process of becoming female or male
35
Sexual Determination
when the maternal and paternal chromosomes join and create zygotes which are either XX or XY
36
What determines gonadal (testicles/ovaries) sex?
chromosomal sex
37
depending on what your exposure to the hormones are, a child can either be more or less ____
masculine
38
What causes behavioral differences (sex wise)?
Morphological Differences in CNS | Effector Differences (muscles)
39
In mammals, ____ external genitalia is the ‘____’ sex
female, neutral
40
Additional steps are needed for male external genitalia. What does this mean?
more chances of error
41
In what ways are we sexually dimorphic?
* size & shape * physiology * cognitive function * behaviour
42
David Reimer story
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
Santhi Soundarajan
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
Chromosomal Sex
Most basic level – sex as it is determined by the sex chromosomes that They receive at birth.
45
Gonadal Sex
The possession of either ovaries or testes
46
Hormonal Sex
Females of most vertebrate species posses higher levels of estrogen to androgen ratios compared to males; males have the opposite pattern
47
Morphological Sex
Differences in body type between males and females i.e. breasts
48
Behavioural Sex
Male-typical vs female-typical behaviours (females of most species often care for young, males often defend territory)
49
Homogametic Sex
similarly shaped sex chromosomes – females (XX)
50
Heterogametic Sex
differently shaped sex chromosomes – males (XY)
51
Levels of determination
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
Hormonal differentiation
your primordial gonalds either turns into testes or ovaries depending on the sex determining region Y (SRY) gene (found in Y chromosome)
53
􏰄􏰄♀
Mullerian
54
♂
Wolffian Duct
55
Mullerian inhibiting substance can be seen as?
Spray that removes weeds
56
How does a male XY develop?
⇝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
How does a female XX develop?
⇝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
testis determining factor
a protein encoded by the sex determining region Y (SRY) gene
59
Turners Syndrome
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
Congenital Adrenal Hyperplasia
adrenal glands produce stress hromones, but also androgens | someone with CAH their adrenals produce way too much androgens
61
Androgen Insensitivity Syndrome - Partial vs. Complete
no receptors or some receptors
62
Klinefelter Syndrome
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
Jocob's Syndrome
Extra y-chromosome (XYY) Male at birth, but sterile. Male prisoners have a disproportionately higher rate of XYY Impaired language skills
64
Having an extra Y chromosome was thought to contribute to increased aggression/criminal activity (many prisoners have it), was this true?
NOPE: they have lower intelligence and are very tall = easier to get caught and more easily identifiable
65
Perinatal androgens most common cause of abnormal sexual differentiation
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
Additivegenes
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
Dizygotic (fraternal) twins
result from two sperm penetrating two ova, and share 50% of their genes.
68
Monozygotic (identical) twins
originate from one zygote, and share 100% genes.
69
How are monozygotic twins made?
- 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
What do you need for dizygotic twins?
- 2 chorions | - 2 amnions
71
The likelihood of multiple births vary by ____ and | ____
age and ethnicity
72
Why are we more likely to have twins as we age?
We tend to hyper-ovulate
73
Do identical twins run in the family?
No
74
Highest and lowest rates of twins?
Highest: Africa Lowest: Asia/South America
75
Hazards of multiples include:
birth complications, low birth weight, death, disease, and disabilities.
76
Genes have been found to influence several disorders, including: What else plays a key role in these disorders?
Schizophrenia Addiction Nearsightedness Diabetes Environment
77
Chromosomal abnormalities
when the zygote􏰀s cells have fewer or more chromosomes than 46.
78
What is the most common correlate of chromosomal abnormalities?
Maternal age Older mother = older ova
79
Down syndrome
when a zygote has 3 copies of chromosome 21 (a trisomy) Sufferers experience mental slowness, faster aging, and physical problems.
80
Down syndrome is also known as
Trisomy 21
81
Huntington􏰀s disease
a fatal CNS disorder caused by a genetic miscode. It is inactive until middle adulthood
82
Tourette syndrome
a dominant disorder, can lead to uncontrollable tics and obscenities.
83
Genetic counseling provides facts. It is recommended for:
– 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
Zygote
is the single cell formed from the union of two gametes, a sperm and an ovum
85
Deoxyribonucleic Acid (DNA)
A material present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information
86
Allele
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
Epigenetics
the study of how environmental factors affect genes and genetic expression
88
Genome
the full set of genes that are instructions to make an individual member of a certain species
89
What sex chromosome is bigger with more genes?
X
90
Vanishing twin phenomenon
when you see 2 embryos at first, but only 1 continues to grow
91
Infertility
failure to conceive a child after a year of trying
92
Subfertile
when a couple is less fertile than ideal but not sterile
93
Both sexes become less fertile every year starting at age __. Who has a deeper decline?
18, women
94
Almost every trait is ____ (affected by many genes)
polygenic
95
Recessive genes are not apparent unless the child happens to inherit the same recessive gene from?
Both parents
96
____ are more likely to be carriers of X linked traits but are less likely to express them
females
97
What leads to a recognizable syndrome?
If an entire chromosome is missing or added
98
Characteristics if Trisomy 21?
Thick tongue Round face Slanted eyes Distinctive hands/feet/fingerprints Hearing problems Heart abnormalities Muscle weakness Short stature
99
Two rules that must be followed by genetic councillors
Tests are confidential | Decisions are made by clients
100
Blastocyst
Bundle of cells into which a fertilized ovum divides
101
adrenal glands produce stress hromones, but also androgens someone with CAH their adrenals produce way too much androgens What is this called?
Congenital Adrenal Hyperplasia

Introduction To Development Test 1 (14 decks)

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