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PUBHLTH 311 > Learning Objectives Exam 1 > Flashcards

Learning Objectives Exam 1 Flashcards

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1
Q

What are the levels of genetics

A

Genetics considers the transmission of information at the molecular level, through cells, tissues and organs, individuals, families, and to populations and the evolution of species

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2
Q

Compare and contrast Mendelian and complex traits

A

A mendelian trait is caused predominantly by a single gene whereas complex traits are determined by one or more genes and their environmental factors

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3
Q

Compare and contrast DNA and chromosomes

A

DNA can replicate itself and is accessible to manufacture proteins, chromosomes consist of DNA and protein. When a cell is not dividing, the chromosomes are unwound

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4
Q

Practical uses for DNA information

A

DNA analysis can be used to confirm findings from anthropology and history, provide views into past epidemics, etc

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5
Q

Where is genetic information stored in human cells

A

Genetic information is stored in the nucleus within chromosomes

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6
Q

Describe the mitotic cell cycle

A

Mitosis is the division of DNA and rest of the cell

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7
Q

Describe cellular differentiation

A

Cells differentiate down cell lineages of stem, progenitor, and increasingly differentiated cells
Totipotent-can give rise to every cell type
Pluripotent- Have fewer possible fates
Multipotent - have only a few developmental choices

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8
Q

Complementary rules of DNA pairing and replication

A

Adenine and Thymine
Guanine and Cytosine

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9
Q

Number and pattern of chromosomes in the human cell

A

Somatic cells have two copies of the genome and are said to be diploid (2n), germ cells have one copy of the genome and are haploid (n)

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10
Q

Meiosis

A

cell division that halves the chromosome number

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11
Q

Steps in sperm formation

A

A diploid spermatogonium divides by mitosis to produce a stem cell and another cell that specializes into a mature sperm, in meiosis I the primary spermatocyte produces two haploid secondary spermatocytes, in meiosis II each secondary spermatocyte produces two equal-sized spermatids, spermatids then mature into the tad-pole spermatazoa

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12
Q

Steps in oocyte formation

A

Begins with diploid oogonium, meiosis I primary oocyte divides unequally forming a small polar body and a large secondary oocyte, in meiosis II the secondary oocyte divides to form another polar body and a mature ovum

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13
Q

How do rapid aging syndromes occur

A

Genes control aging both passively (as structures break down) and actively (by initiating new activities), progeroid syndromes are single-gene disorders that speed aging-associated changes, most accelerated again conditions are caused by the inability of cells to adequately repair DNA

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14
Q

What is the critical period

A

The time when genetic abnormalities, toxic substances, or viruses can alter a specific structure

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15
Q

Heterozygote vs homozygote

A

Hetero-carry different alleles, homo-carry same alleles

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16
Q

Dominant vs recessive traits

A

dominant (observed)-only need one copy of the allele for the trait to be present, recessive (masked)-need 2 copies of the allele to be present

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17
Q

Phenotype vs genotype

A

Phenotype-outward expression of an allele combination, genotype-organism’s alleles

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18
Q

Modes of inheritance

A

patterns in which single-gene traits and disorders occur in families (ex. autosomal dominant and autosomal recessive)

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19
Q

Mendel’s Laws

A

Segregation- meiosis segregates alleles into gametes and during fertilization gametes combine (alleles combine) Independent Assortment- the inheritance of one gene doesn’t influence the chance of inheriting the other

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20
Q

Lethal alleles

A

a phenotypic class does not survive to reproduce

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21
Q

Mitochondrial vs nuclear DNA

A

Mitochondrial DNA is small circular DNA called mtDNA and contains 37 genes, they are maternally inherited. mtDNA doesn’t cross over, it mutates faster than DNA in the nucleus, mitochondrial genes are not wrapped in proteins or interrupted by DNA sequences that do not encode protein

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22
Q

Genetic linkage

A

genes that are close on the same chromosome are said to be linked, these genes do not assort independently in meiosis

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23
Q

X and Y chromosome linkage patterns

A

Y linked traits are very rare and any identified Y-linked traits involve infertility and are not transmitted, X-linked traits in females are passed like autosomal traits, in males a single copy of an X-linked allele causes expression of the trait or illness

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24
Q

Sex-limited traits

A

traits that affect a structure or function that is present in only one sex (autosomal or X-linked)

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25
Sex-influenced traits
Allele is dominant in one sex but recessive in the other (autosomal or x-linked), the difference in expression can be caused by hormonal differences between sexes
26
X-inactivation
balances the inequality in the expression of genes on the X-chromosome in women, XIST gene encodes an RNA that binds to and inactivates the X chromosome. It occurs early in development (only alters phenotype) and is considered an epigenetic change.
27
Parent-of-origin effects
for some genes parental origin influences phenotype (age of onset and symptom severity)
28
Single-gene vs polygenic traits
single-gene is mendelian and caused by a single gene, polygenic is caused by multiple genes
29
How do genetic and environmental influences affect continuously varying traits
Traits that don't have discrete categories but instead exhibit a continuous range of phenotypes. Examples include height, weight, skin color, and intelligence. These traits are influenced by both genetic and environmental factors.
30
Empiric risk vs mendelian frequency
Empiric risk measures the likelihood that a trait will recur based on influence whereas Mendelian frequency is theory-driven and applies to simple, single-gene disorders
31
Heritability and its types
Heritability changes as the environment changes ex. height, weight, and intelligence
32
What type of information can a genome-wide study reveal
Compares genetic sequences associated to some degree with a particular trait or illness
33
DNA structure
The bases, genes and chromosomes, and the genome parts that loop, fold, touch, & interact as genes are expressed
34
Semi conservative mechanism of DNA replication and the basic strategy used to determine the base sequence of a DNA molecule
1. Parent DNA molecule. 2. Parental strands unwind and separate at several points. 3. Each parental strand provides a template for DNA polymerase to bind complementary bases, A with T and G with C. 4. Sugar-phosphate backbone of daughter strands close.
35
Interphase
prepares for cell division, replicates DNA and sub cellular structures, composed of G1, S, and G2 phases
36
Mitosis-Prophase
Condensed chromosomes take up stain, the spindle assembles, centrioles appear and the nuclear envelope breaks down
37
Mitosis-Metaphase
Chromosomes align
38
Mitosis-Anaphase
Centromeres part and chromatids separate
39
Mitosis-Telophase
The spindle disassembles and the nuclear envelope re-forms
40
Mitosis-Cytokinesis
Cytoplasmic division occurs after nuclear division is complete, organelles and macromolecules are distributed between the two daughter cells, microfilament band contracts and two cells are separated
41
Meiosis I
Reduces the number of chromosomes from 46 to 23 (2 daughter cells)
42
Meiosis II
Produces four cells from the two produced in Meiosis I
43
multiple alleles
many variants or degrees of a phenotype are possible
44
incomplete dominance
a heterozygote's phenotype is intermediate between those of the two homozygotes
45
codominance
a heterozygotes phenotype is distinct from and not intermediate between those of the two homozygotes
46
epistasis
one gene masks or otherwise affects another's phenotype
47
penetrance
all or nothing gene expression
48
expressivity
a genotype is associated with a phenotype of varying intensity
49
pleiotropy
a single gene affects many traits
50
phenocopy
an environmentally caused condition has symptoms and a recurrence pattern similar to those of a known inherited trait
51
genetic heterogeneity
genotypes of different genes cause the same phenotype
52
How can X inactivation be used to check the sex of an individual
Nucleus of a cell of a female during interphase contains a Barr body
52
Consequences of X-inactivation
no effect in homozygous x-linked genotypes, in heterozygotes it leads to expression of one allele or the other
53
Genomic imprinting
methyl groups bind a gene or several linked genes which prevents them from being expressed
54
Friedrich Miescher
Isolated nuclein in white blood cell nuclei
55
Fredrick Griffith
Transferred killing ability between types of bacteria
56
Oswald Avery, Colin MacLeod, and Maclyn McCarty
Discovered that DNA transmits killing ability in bacteria
57
Alfred Hershey and Martha Chase
Determined that the part of a virus that infects is its nucleic acid and not its protein
58
Phoebus Levene, Erwin Chargaff, Maurice Wilkins and Rosalind Franklin
Discovered DNA components, proportions, and positions
59
James Watson and Francis Crick
Used X-Ray crystallography to determine DNA's 3D structure
60
James Watson
had his genome sequenced
61
Helicase
unwinds parental double helix
62
Binding proteins
stablize separate strands
63
Primase
adds short primer to template strand
64
DNA polymerase
binds nucleotides to form new strands
65
Ligase
joins okazaki fragments and seals other nicks in sugar phosphate backbone

PUBHLTH 311 (2 decks)

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