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PUBHLTH 311 > Learning Objectives Exam 1 > Flashcards

Learning Objectives Exam 1 Flashcards

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
Q

Sex-influenced traits

A

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

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26
Q

X-inactivation

A

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.

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27
Q

Parent-of-origin effects

A

for some genes parental origin influences phenotype (age of onset and symptom severity)

28
Q

Single-gene vs polygenic traits

A

single-gene is mendelian and caused by a single gene, polygenic is caused by multiple genes

29
Q

How do genetic and environmental influences affect continuously varying traits

A

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
Q

Empiric risk vs mendelian frequency

A

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
Q

Heritability and its types

A

Heritability changes as the environment changes ex. height, weight, and intelligence

32
Q

What type of information can a genome-wide study reveal

A

Compares genetic sequences associated to some degree with a particular trait or illness

33
Q

DNA structure

A

The bases, genes and chromosomes, and the genome parts that loop, fold, touch, & interact as genes are expressed

34
Q

Semi conservative mechanism of DNA replication and the basic strategy used to determine the base sequence of a DNA molecule

A
  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
Q

Interphase

A

prepares for cell division, replicates DNA and sub cellular structures, composed of G1, S, and G2 phases

36
Q

Mitosis-Prophase

A

Condensed chromosomes take up stain, the spindle assembles, centrioles appear and the nuclear envelope breaks down

37
Q

Mitosis-Metaphase

A

Chromosomes align

38
Q

Mitosis-Anaphase

A

Centromeres part and chromatids separate

39
Q

Mitosis-Telophase

A

The spindle disassembles and the nuclear envelope re-forms

40
Q

Mitosis-Cytokinesis

A

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
Q

Meiosis I

A

Reduces the number of chromosomes from 46 to 23 (2 daughter cells)

42
Q

Meiosis II

A

Produces four cells from the two produced in Meiosis I

43
Q

multiple alleles

A

many variants or degrees of a phenotype are possible

44
Q

incomplete dominance

A

a heterozygote’s phenotype is intermediate between those of the two homozygotes

45
Q

codominance

A

a heterozygotes phenotype is distinct from and not intermediate between those of the two homozygotes

46
Q

epistasis

A

one gene masks or otherwise affects another’s phenotype

47
Q

penetrance

A

all or nothing gene expression

48
Q

expressivity

A

a genotype is associated with a phenotype of varying intensity

49
Q

pleiotropy

A

a single gene affects many traits

50
Q

phenocopy

A

an environmentally caused condition has symptoms and a recurrence pattern similar to those of a known inherited trait

51
Q

genetic heterogeneity

A

genotypes of different genes cause the same phenotype

52
Q

How can X inactivation be used to check the sex of an individual

A

Nucleus of a cell of a female during interphase contains a Barr body

52
Q

Consequences of X-inactivation

A

no effect in homozygous x-linked genotypes, in heterozygotes it leads to expression of one allele or the other

53
Q

Genomic imprinting

A

methyl groups bind a gene or several linked genes which prevents them from being expressed

54
Q

Friedrich Miescher

A

Isolated nuclein in white blood cell nuclei

55
Q

Fredrick Griffith

A

Transferred killing ability between types of bacteria

56
Q

Oswald Avery, Colin MacLeod, and Maclyn McCarty

A

Discovered that DNA transmits killing ability in bacteria

57
Q

Alfred Hershey and Martha Chase

A

Determined that the part of a virus that infects is its nucleic acid and not its protein

58
Q

Phoebus Levene, Erwin Chargaff, Maurice Wilkins and Rosalind Franklin

A

Discovered DNA components, proportions, and positions

59
Q

James Watson and Francis Crick

A

Used X-Ray crystallography to determine DNA’s 3D structure

60
Q

James Watson

A

had his genome sequenced

61
Q

Helicase

A

unwinds parental double helix

62
Q

Binding proteins

A

stablize separate strands

63
Q

Primase

A

adds short primer to template strand

64
Q

DNA polymerase

A

binds nucleotides to form new strands

65
Q

Ligase

A

joins okazaki fragments and seals other nicks in sugar phosphate backbone

PUBHLTH 311 (2 decks)

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