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Chapter 1+2 Flashcards

1
Q

What are the main 3 types of genetic disorders?

A

1) Chromosome disorders2) Single gene defects3) Multifactorial inheritance

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2
Q

What is a chromosome disorder?

A

gain or loss of genes in whole chromosomes or a segment of a chromosome

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3
Q

What is a Single Gene defects?

A

you have a single gene or individual mutant gene

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4
Q

How is Single Gene defects inherited?

A

Medelian Genetics

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5
Q

What is an example of a chromosome disorder?

A

Down Syndrome

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6
Q

What is an example Single gene defects?

A

Cystic Fibrosis, Marfan Syndrome

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7
Q

What is a Multifactorial inheritance?

A

having multiple genes mutated and how these interact with the environmental

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8
Q

How are multifactorial inheritance?

A

mendelian genetics (it will be passed down in the family)

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9
Q

Give 3 examples of multifactorial inheritance?

A

alzheimer’s, diabetes, hypertension

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10
Q

In what type of chromosomes is the human genome encoded?

A

nuclear and mitochondrial chromosomes

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11
Q

What is DNA?

A

hereditary material containing the genetic information

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12
Q

what cells have a copy of the DNA?

A

all nucleated cells

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13
Q

What is a Gene?

A

is a unit of genetic information

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14
Q

what is a locus?

A

precise location of a gene in a chromosome

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15
Q

what is a gene map?

A

maps the chromosomal location of all genes

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16
Q

what is a karyotype?

A

shows the specific characteristics of the chromosomes (number and morphology)

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17
Q

What is the simplest polymorphism?

A

SNP (a change in a single nucleotide)

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18
Q

What is cytogenetics?

A

the study of chromosomal structure and inheritance.

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19
Q

Chromosomes 1 through 22 are called what?

A

autosomal

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20
Q

chromosome 23 is called?

A

sex chromosome

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21
Q

what is the nuclear genome?

A

is the normal human chromosomeit contains 46 total chromosomes

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22
Q

What are somatic cells?

A

referes to all cells in the body except those in the gamete

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23
Q

What are homologous chromosomes?

A

are members of a pair of chromosomesthey carry the same subset of genes arranged linearly along its DNA

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24
Q

What is an allele?

A

is one of the alternate versions of a gene or DNA sequence at a given locus

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25
Does the Mitochondria have chromosomes?
yes, it contains a small chromosome part of the human genome
26
What are the components that make up the DNA structure?
5-carbon deoxyribosenitrogen-containing purine (or pyrimidine base)phosphate group
27
What specifies the specific amino acid sequence of a polypeptide chain of proteins?
the sequence of nucleotides in the DNA primary structure
28
how is a nucleotide formed?
when a deoxyribose and a phosphate group join
29
Mitochondrial genes exhibit what kind of inheritance?
maternal inheritance
30
what is chromatin?
is the genome packed (DNA wrapped in histones)
31
how many DNA molecules does the nuclear genome have?
46 DNA molecules
32
What are the 4 core histones? (how many copies of these are there?)
H2A,H2B,H3,H4; there are two copies of these 4 (is a octomer complex)
33
What is a nucleosome?
structural unit of chromatin
34
What histones can be post-translationally modified?
H3, H4
35
What is the solenoid?
secondary helical chromatin structure of coiled nucleosomes appear as a thick cylindrical fiber.
36
What are the two types of DNA?
1) single-copy DNA2) repetitive DNA sequences
37
How is single-copy DNA found?
short stretches interspersed with various repetitive DNA families
38
How is repetitive DNA sequences found?
repeats clustered in one or few locations or interspersed throughout the genome
39
What percent do Satellite DNA make up of all genetic material?
10-15%
40
how do you find satellite DNA?
arrays of various short repeats organized tandemly head to tail.
41
What is a satellite DNA?
different types of tandem repeats that can be separated as a distinct fraction of DNA
42
What are Pentanucleotide repeats?
are satellite DNA, long arrays found in genetically inert regions on chromosomes 1, 9, 16 and on Y
43
Give 3 examples of dispersed repetitive DNA.
1) Alu Family 2) LINE 3) Segmental duplications
44
What is so special about the Alu family?
that is the best studied dispersed repetitive element
45
What is LINE?
a long interspersed nuclear element family composing 20% of the genome. They are retrotransposons (copies can be integrated and cause insertional inactivation)
46
What is a segmental duplication?
genetic rearrangements that can lead to gene deletions resulting in disease.
47
What are the two cell divisions?
Mitosis | Meiosis
48
Where does mitosis happen?
ordinary somatic cell division
49
What does mitosis result in?
2 diploid daughter cells with 2n chromosomes identical to parent DNA
50
Where does meiosis happen?
in germline cells
51
What does meiosis result in?
in reproductive cell gametes that are haploid/ contain 23 chromosomes
52
What is interphase?
period of biosynthesis and growth between two mitosis; has 3 checkpoints
53
What are the checkpoints of the cell cycle?
G1, G2, S phases
54
when does G1 occur? is there synthesis of DNA?
after mitosis; no synthesis of DNA
55
what happens in S phase?
chromosomes replicate to become bipartite with two sister chromatids
56
What are telomeres?
the end of each chromatid, they ensure chromosome integrity during cell division
57
What is telomerase?
enzyme that maintain chromosome ends
58
What does it mean that DNA replication is a semiconservative process?
it means that one strand of the double helix is directly from the parent and the other is synthesized from that.
59
What does the centromere do?
it holds the two sister chromatids together
60
during what phase do chromosomes start to condense?
mitotic phase (M phase)
61
What happens in M phase?
chromosomes condense and 1 chromatid of each chromosome moves is distributed to each daughter cell.(distributing a copy of the chromosome to each daughter cell)
62
What are the 5 stages of Mitosis?
1) Prophase 2) Prometaphase 3) Metaphase 4) Anaphase 5) Telophase
63
What happens in prophase?
chromosomal condensation and formation of mitotic spindle
64
What happens in prometaphase?
nuclear membrane breaks up, chromosomes attach to microtubule in kinetochore
65
What happens in metaphase?
maximum condensation and alignment in equatorial plane
66
What happens in anaphase?
chromosomes separate at centromere, sister chromatids separate and are independent daughter chromosomes, they move to opposing poles
67
What happens in telophase?
chromosomes begin to decondense, nuclear membrane begins to form
68
What is euchromatin?
it is the C-G rich portion of chromatin, it is genetically active
69
what is heterocromatin?
chromosomal segment that remains in interphase, is mostly repetitive DNA with no genetic activity
70
What are the phases of Prometaphase in Meiosis I?
1) Leptotene 2) Zygotene 3) Pachytene 4) Diplotene 5) Diakenesis
71
What are the consequences of Meiosis?
1) reduction of chromosome number from diploid to haploid 2) Shuffling of genetic material due to random assortment of the homologues 3) additional shuffling of genetic material due to crossing over.
72
what is G-banding?
technique used to stain chromosomes, it shows the base composition and distribution of repetitive DNA elements.
73
what do you see in G-banding?
black and white alternating pattern
74
What happens in leptotene?
you have separated homologues, sister cromatids are very close to each other and start to condense
75
what happens in zygotene?
sister cromatids begin to forma complex by synapsing; they line up by their entire lenght
76
what happens in pachytene?
the sister cromatids are now a tetrad and undergo crossing over
77
what happens in diplotene?
the bivalent are together, you have chiasma which is where crossing over has occured
78
what happens in diakenesis?
bivalents separate
79
when does spermatogenesis start occurring?
at puberty
80
where are sperm formed?
in seminiferous tubules of testes
81
what forms spermatogonia?
primordial germ cells
82
in the development stage, what is the final cell type?
primary spermatocyte
83
what happens with the primary spermatocyte?
it undergoes meiosis 1 forming 2 haploid secondary spermatocytes
84
What cell type of spermatogenesis undergoes meiosis 2?
secondary spermatocyte to form four spermatids that later form sperm
85
when does oogenesis occur?
at prenatal development
86
into what does oogonia develop and does the resulting cell undergo meiosis 1 or 2?
oogonia develop into primary oocyte and then undergo meiosis 1
87
what happens with primary oocytes that do not degenerate?
they remain in prophase 1 until menstruation
88
what happens before ovulation?
oocyte completes meiosis 1 becoming a secondary oocyte and first polar body
89
when does meiosis 2 proceed in oocyte?
after fertilization to produce a fertilized mature ovum and second polar body

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