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Genetics > Mendel- Chi squared (unit 1) > Flashcards

Mendel- Chi squared (unit 1) Flashcards

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1
Q

genetics

A

study of heredity and the variation of inherited characteristics

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2
Q

molecular biology

A

study of formation, structure, and function of macromolecules essential to life (nucleic acid and proteins)

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3
Q

evidence for DNA based heredity

A

streptococcus pneumoniae studies

-something was passed from S to R strain confers virulence to R

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4
Q

griffith’s 1928 experiment

A

dead S + living R= pneumonia and living R and S colonies in mouse

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5
Q

Avery, Macleod, and McCarthy experiment 1944

A

3 treatments (1 destroyed RNA, 1 protein, and 1 DNA)- the DNA-ase showed only S colonies= DNA is mode of heredity

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6
Q

DNA structure

A

double helix- Watson and crick and silkens and franklin

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7
Q

DNA

A

double stranded helix, sugar-phosphate backbone, paired nucleotides
-4 nucleotides (A-T, C-G)

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8
Q

Archibald Garrod 1908

A

enzyme defects result in inborn errors of metabolism= hereditary diseases

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9
Q

inborn errors of mutation (garrod)

A

Garrod linked metabolic problems to mutant enzymes

-alkaptonuria- found that 4th step in metabolic process is affected in disease (genetic and hereditary link)

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10
Q

enzymes

A

catalyze the conversion of substrate to product

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11
Q

blending inheritance

A

hypothesis proposed pre-mendel

-traits were thought to blend in offspring

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12
Q

Mendel’s genetic hypothesis

A

1-each parent contributes to progeny’s distinct elements of hereditary (factors= genes)
2- factors remain unchanged as they pass to offspring

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13
Q

reciprocal cross

A

outcome of the cross is independent of whether the phenotype came from the male or female parent

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14
Q

dominant trait

A

phenotype is shown in hybrids

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15
Q

recessive trait

A

phenotype is masked in hybrids

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16
Q

genes

A

come in pairs; each parent has 2 copies (alleles) of each gene

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17
Q

gametes

A

reproductive cells that contain only one copy of a gene

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18
Q

principle of segregation

A

genes separate into reproductive cells, one to each

-gametes unite at random in fertilization

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19
Q

alleles

A

different forms of one particular gene

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20
Q

test cross

A

cross between a dominant phenotype individual and a recessive phenotype to determine the dominant phenotype in individual’s genotype

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21
Q

dihybrid

A

an FI individual hybrid for 2 characteristics

-traits segregate independently

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22
Q

independent segregation

A

results in an equal frequency of all 4 possible types of gametes

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23
Q

addition rule

A

probability of one or the other of two mutually exclusive possibilities, A or B, is the sum of their separate possibilities
ex- prob of getting round seed from Ww cross (prob WW + prob Ww= xx)

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24
Q

multiplication rule

A

probability of two independent possibilities A and B occurring at the same time
ex- prob of both of 2 offspring from Ww cross are round

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25
Q

independent segregation

A

alleles segregate independently into gametes

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26
Q

random fertilization

A

gametes pair independently= therefore successive offspring are independent of each other

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27
Q

transposable element

A

mobile DNA element that can “hop” in and disrupt a gene

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28
Q

pedigree

A

family tree showing phenotypes of individuals

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29
Q

autosomal

A

on a chromosome other than a sex chromosome (X or Y)

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30
Q

carrier

A

heterozygous for recessive allele

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31
Q

incomplete dominance

A

phenotype of heterozygous genotype is intermediate between the phenotypes of the homozygous genotypes
-often observed when the phenotype is quantitative rather than discrete

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32
Q

codominance

A

heterozygous phenotype exhibits the traits associated with both homozygous genotypes
-more frequent for molecular traits than for morphological traits

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33
Q

multiple alleles

A

presence in a population of more than two alleles of a gene

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34
Q

ABO blood groups

A

A and B are codominant, both are dominant to O

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35
Q

antibody

A

protein made by immune system in response to a stimulating molecule (antigen)… reaction of matching antibody to antigen causes agglutination (clumping) of RBCs

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36
Q

variable expressivity

A

same mutant gene can cause a severe defect in one individual, but a mild defect in another- range of phenotypes made by one genotype

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37
Q

penetrance

A

proportion of individuals whose phenotype matches their genotype for a given trait

  • whether or not a phenotype shows up for discrete traits with a particular genotype
  • genes + envi= phénotype
38
Q

incomplete penetrance

A

used when discrete categories are defined

39
Q

epistasis

A

gene interactions- any type of gene interaction that results in the expected ratio from a dihybrid cross
-interactions happen when two genes both contribute to a single trait being studied

40
Q

complementation

A

if two recessive mutations are alleles of different genes, then the phenotype of an individual that contains only one copy of each mutation will exhibit the wild type (normal) phenotype
-mutations cancel out if they are on different genes

41
Q

fail to complement

A

if two mutations occur on the same gene, then the phenotype of organism that contains one copy of each mutation has mutant phenotype

42
Q

chromosomes

A

discovered by Walther Flemming in the 1880s- segregation and assortment of trait connection was made much later

43
Q

somatic cells

A

cells of the body (everything but gametes)

44
Q

diploid

A

2 copies of each chromosome in each diploid cell

-human cells contain 23 pairs of chromosomes for total of 46

45
Q

gametes

A

reproductive cells

46
Q

haploid

A

one copy of each chromosome in each haploid cell

47
Q

mitosis

A

process of chromosome segregation and cell division that result in 2 genetically identical diploid daughter cells

48
Q

homologous chromosomes

A

matching chromosome “pair”- same genes at same loci

49
Q

sister chromatids

A

identical copies formed by replication of a chromosome= 1/2 of duplicated chromosome

50
Q

mitosis

A

prophase- chromosomes condense, chromatids are attached at centromere
metaphase- biotic spindle attaches at kinetochore; chrome move to plate, microtubule on each side; alignment is essential
anaphase- centromeres divide, sister chromatids separate and move to opposite poles
telophase- nuclear membrane reappears and chroms decondense into chromatin- cell divides in cytokinesis

51
Q

meiosis

A

process of chromosome segregation and cell division that results in 4 haploid daughter cells

  • requires two divisions, one replication
  • *reductional division
52
Q

meiosis I

A

splitting up homo pairs- 4 chromatids on metaphase plate= tetrad or bivalent

53
Q

tetrad or bivalent

A

4 chromatids (from him pairs in meiosis I)

54
Q

meiosis II

A

chromatids of chromosome split up

55
Q

prophase I

A

synapsis- pairing of hom chroms
chiasmata- connections between hom chroms- result from physical exchange of DNA between chromatids
crossing over- recombination= genetic exchange between hom chroms

56
Q

metaphase I

A

bivalents randomly align** at plate= independent assortment of genes on separate chromosomes

57
Q

telophase I

A

spindle breaks down, nuclear envelope briefly reforms in same species around chromosomes, and plasma membrane splits

58
Q

prophase II

A

because of crossing over in meiosis I, the two sister chromatids are no longer identical= individual cells get different hom chroms

59
Q

chromosome complement

A

the complete set of chromosomes

60
Q

chromatin

A

DNA and protein that the chromosome consists of

-complexity of genes cannot be determined from number of chromosomes

61
Q

nucleosome

A

DNA wrapped around histone

62
Q

histone

A

major protein component of chromatin

  • bead of the nucleosome
  • positively charged amino acids allow binding to DNA
63
Q

heterochromatin

A

in interphase, these regions are compact

-has few genes and long stretches of repeat sequences called “satellite DNA”

64
Q

euchromatin

A

condensed only in mitosis/ meiosis; contains many active genes in interphase
-much more crossing over than heterochromatin

65
Q

centromere

A

essential for proper chromosome segregation

66
Q

kinetochore

A

DNA and protein complex that includes the centromere- the spindle attaches at the kinetochore

67
Q

telomere

A

essential for chromosome stability- region of highly repetitive DNA at the end of each linear chromosome

  • prevent loss of genes at ends of chromosomes
  • prevent ssDNA from sticking chromosomes together
68
Q

chromosome theory of heredity

A

genes are located in chromosomes
-1st evidence that genes were on chromosomes came from experiments looking at patterns of transmission in sex chromosomes= the sex of the individual correlated with the presence or absence of a particular chromosome

69
Q

heterogametic sex

A

has 2 different sex chromosomes XY

70
Q

homogametic sex

A

has 2 of the same sex chromosomes XX

71
Q

sex linked POI

A

the Y chromosome does not have a copy of the gen on it, therefore males only get one copy and are not affected by dominant POIs

72
Q

pedigree with sex linked POI

A
  • most of the affected are male

- mother of the affected individual is a carrier (males cannot be carriers)

73
Q

nondisjunction

A

two chromosomes fail to separate from each other during meiosis

74
Q

locus

A

physical location of a gene on a chromosome

-random alignment of non-hom chroms in metaphase I causes independent assortment of genes

75
Q

linked genes

A

inherited together- located in close proximity on the chromosome

76
Q

recombination

A

crossing over of hom chroms in prophase I of meiosis causes gene combinations to recombine and produces different allele combinations than the parental type
**caused by crossing over

77
Q

linkage

A

estimated by the frequency of recombination

-50% recombination is unlinked- same as independent assortment

78
Q

frequency of recombination

A

(%) serves as a measure of genetic distance between genes and allows us to construct genetic maps
-1% recombination= 1 map unit= 1cM

79
Q

cis (coupling) configuration

A

the wild type alleles (A or B, +) are on one chromosome and the mutants are on another
AB/ab

80
Q

trans (repulsion) configuration

A

each chromosome has one wild type and one mutant

Ab/aB

81
Q

recombinant frequency

A

recombinant/ total

  • increases with increased distances between genes
  • max= 50%= independent assortment
82
Q

genetic map

A

diagrams that show the location of every gene on every chromosome

83
Q

three factor crosses

A

allow the order of genes on a chromosome to be determined
1-identify most common classes (parental and nonrecomb)
2- identify the next most common classes (=resultant of a single crossover)
3-identify the 2 rarest classes (=double crossovers)= middle gene

84
Q

how recombination occurs

A

1- double strand break
2- strand invades- involves bas pairing (homology)
3- new DNA is synthesis to fill the gap
4- breakage and re-joining resolves the Holliday junctions
5- crossover between A and B results

85
Q

mapping human gene challenges

A
  • most genes that cause genetic diseases are rare

- most mutant genes are recessive= not detectable in carriers

86
Q

polymorphism

A

a genetic difference that is relatively common in a population

  • provide convenient genetic markers on each of the chromosomes
  • most don’t cause disease or a trait- can be linked to disease
87
Q

SNP

A

single nucleotide polymorphism- instances in which a single nucleotide site differs from one individual to the next. each individual has a specific assortment of SNPs
=single base variation between 2 otherwise identical DNA sequences
*most SNPs occur in the non-coding regions between genes

88
Q

SNP chip

A

DNA sequences correspond to common SNPs found in the human population- cheaper and faster than sequencing

89
Q

restriction enzymes

A

proteins that cut DNA at specific sequences

90
Q

restriction fragment length polymorphism (RFLP)

A

a single base variation between 2 otherwise identical DNA sequences that cause a change in a restriction site

91
Q

simple sequence repeats (SSR)

A

tenderly repeated short DNA sequences common in the human genome (DNA polymorph)

92
Q

SSR variability

A

very common- most individuals are heterozygous at any given point
-two bands mean the individual is heterozygous

Genetics (5 decks)

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