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Castle Williamson Flashcards

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Biology 101 flashcards
1
Q

genetics

A

study of genes, heredity and genetic variation in living organisms. it is generally considered a field of biology but overlaps many life sciences and is strongly linked with the study of informations systems

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2
Q

molecular genetics

A

studies structure and function of genes at a molecular level. study of chromosomes and gene expression of an organism can give insight into hereditary, genetic variation, epigenetics and mutation

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3
Q

luxturna

A

genetically modified virus that ferries a healthy gene into the eyes of patients with retinal dystrophy– first gene therapy for inherited diseases

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4
Q

Genome

A

a complete set of genetic instructions for any organism

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5
Q

transmission genetics

A

classical genetics, how traits are passed from one generation to the next

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6
Q

molecular genetics

A

gene structure, function, and regulation

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7
Q

population genetics

A

the study of genetic composition of groups (populations) and how gene frequency changes geographically or with time– essentially the study of evolution. also the analysis of patterns, causes and effects of health and disease conditions in defined populations

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8
Q

model genetic organsims

A

organisms with charcteristics that make them useful for genetic analysis
- fruit fly, E. coli, C. elegans, yeast, zebrafish

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9
Q

characteristics of model organisms

A

-short generation time
production of numerous progeny
-ability to carry out controlled genetics crosses
-ability to be reared in lab environment
-availability of numerous genetic variants
-accumulated body of knowledge about their genetics systems

*animal models are only valuable because of the basic similarity among all living things

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10
Q

C. elegans

A

first multicellular organism to have its whole genome sequenced

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11
Q

What are some of the implications of all organisms having similar genetic systems?

A
  • that all life forms are genetically related
  • research findings on one organisms gene function can often be applied to other organisms
  • genes from one organism can often exist and thrive in another organsims
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12
Q

Lamarckianism

A

if an adult organism changes during life in order to adapt to its environment, those changes are passed on to its offspring

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13
Q

pangenesis

A

that that information needed to specify body parts traveled to the reproductive organs in packets (gemmules) which were packaged into sperm or eggs. the packets were then distributed as needed in the resulting embryo

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14
Q

Theory of germ plasm

A

multicellular organisms organisms produce germ cells that contain and transmit heritable info, and somatic cells which carry out ordinary bodily functions and do not provide hereditary info

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15
Q

gene

A

a distinct sequence of nucleotides forming part of a chromosome, a unit of hereditary that is transferred from parent to offspring

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16
Q

allele

A

one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome

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17
Q

chromosome

A

a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carry genetic info in the form of genes

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18
Q

Prokaryotic cells

A 
nucleus- Absent
cell diameter- small 1-10 micrometer
genome-once circular DNA molecule
amount of DNA- relatively small
membrane-cound organelles- absent
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19
Q

eukaryotic cells

A 
nucleus- present
cell diameter- relatively large 10-100 micrometers
genome- multiple linear DNA molecules
DNA- complexed with histones
Amount of DNA- relatively large
membrane-bound organelles- present
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20
Q

viruses

A

neither prokaryotic nor eukaryotic

outer protein coat surrounding nucleic acid

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21
Q

homologous chromosomes

A

similar but not identical. each homolog carries the same genes in the same order, but the alleles for each trait may not be the same

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22
Q

diploid cells

A

carry two sets of genetic information

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23
Q

haploid cells

A

carry one set of genetic info– gametes

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24
Q

centromere

A

attachment point for spindle microtubules

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25
Q

telomeres

A

tips of linear chromosomes– gradually shorten over lifetime

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26
Q

origin of replication

A

where the DNA synthesis starts

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27
Q

submetacentric

A

centromere situated so that one chromosome arm is somewhat shorter than the other

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28
Q

metacentric

A

centromere in the middle

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29
Q

telocentric

A

centromere at the end with no short arm visible in a light microscope

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30
Q

acrocentric

A

centromere near the end producing a short arm

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31
Q

interphase

A

an extended period between divisions, DNA synthesis, and chromosome replication phase

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32
Q

M phase

A

mitotic phase

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33
Q

Check points

A

key transition points
G1/s- check point - regulated decision point
G2/M- check point- only passed if DNA completely replicated and undamaged

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34
Q

mitosis

A

separation of sister chromatids

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35
Q

cytokinesis

A

separation of cytoplasm

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36
Q

prophase

A

chromosomes condense and mitotic spindle forms

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37
Q

prometaphase

A

nuclear envelope disintegrates and spindle microtubules anchor to kinetochores

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38
Q

metaphase

A

chromosomes align on the metaphase plate, spindle assembly check point

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39
Q

anaphase

A

sister chromatids separate becoming indivual chromosomes that migrate toward spindle poles

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40
Q

Telophase

A

chromosomes arrive at spindle poles, the nuclear envelope re-forms and the condensed chromosomes relax

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41
Q

What is the correct order of stages in the cell cycle

A

G1, S, prophase, metaphase, anaphase

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42
Q

meiosis

A

production of haploid gametes

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43
Q

fertilization

A

the fusion of haploid gametes

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44
Q

genetic variation

A

consequence of meiosis

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45
Q

meiosis 1

A

separation of homologous chromosome pairs and reduction of the chromosome number by half

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46
Q

meiosis 2

A

separation of sister chromatids also known as equational divison

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47
Q

meiosis 1 – prophase 1

A

synapsis- close pairing of homologous chromosomes
tetrad- closely associated 4-sister chromatids of 2 homologous chromosomes
crossing over

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48
Q

crossing over

A

crossing over of chromosome segments from the sister chromatid of one one chromosome to the sister chromatid of the other synapsed chromosomes- exchange of genetic info the first mechanism that generates genetic variation in newly formed gametes
-can result in unequal exchange of genetic material producing chromosomes with deleted or duplicated regions

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49
Q

meiosis 1 – metaphase 1

A

random alignment of homologous pairs of chromosomes along the metaphase plate

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50
Q

meiosis 1– anaphase 1

A

separation of homologous chromosome pairs and the random distribution of chromosomes into 2 newly divided cells- second mechanism of generating genetic variation in formed gametes

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51
Q

which of the following events take place in meiosis 2 but not meiosis 1

A

separation of chromatids

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52
Q

cohesin

A

is a protein complex that holds the chromatids together and is key to the behavior of chromosomes in mitosis and meiosis

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53
Q

spermatogenesis

A

male gamete production

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54
Q

oogenesis

A

female gamete production

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55
Q

Klinefelter sydrome

A

XXY male y overrides x always

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56
Q

heredity

A

passing on of physical or mental characteristics genetically from one generation to another

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57
Q

heritability

A

the proportion of total variation between individuals in a given population that is due to genetic variation

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58
Q

pheomelanin

A

predominant pigment that results in red hair

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59
Q

monohybrid cross

A

cross between two parents that differ in a single characteristic
-3:1

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60
Q

homozygous

A

true breeding the alleles are identical

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61
Q

principle of segregation (Mendel’s First Law)

A

ech individual diploid organism possesses two alleles for any particular characteristic and only one is passed to offspring

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62
Q

independent assortment

A

alleles segregate independently when gametes are formed

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63
Q

Concept of dominance

A

when 2 different alleles are present in a genotype only the trait encoded by one of them - the dominant allele- is observed in the phenotype. the other is recessive

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64
Q

multiplication rule

A

multiply the probability of independent events happening simultaneously

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65
Q

addition rule

A

when two events are mutually exclusive the probability that either A or B will occur is the sum of the probability of each event

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66
Q

conditional probability

A

the probability of an event A given that another B has already occurred

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67
Q

dihybrid cross

A

involves 2 traits with differing alleles

  • easiest if they are dominant and recessive
  • relate the principle of independent assortment to meiosis
  • genes located on different chromosomes will sort independently
  • 9:3:3:1
68
Q

chi-square goodness of fit

A

a statistical test that indicates the probability that the difference between the observed and expected values is due to chance

assumptions:
- random sample- sample data is a random sample of a large population
- sample size- is sufficiently large to prevent small sample error
- independence- observations are independent of each other

69
Q

degrees of freedom

A

number of values that are free to vary minus 1

70
Q

how are the principles of segregation and independent assortment related and how are they different

A
  • genes encoding different characteristics separate and assort independently of one another when they are not located close together on the same chromosome
  • during this process two alleles of the same gene encoding one characteristic still have to be segregated from each other during the formation of gametes
71
Q

multiple testing correction

A

refers to recalculating probabilities obtained from a statistical test which was repeated multiple times
- threshold to achieve significance is more difficult to achieve

72
Q

heterogametic

A

produces 2 different gamete types - 2 different sex chromosomes

73
Q

hermaphroditism

A

both sexes in the same organism mostly invertebrates

74
Q

monoecious

A

both male and female reproductive structures in the same organism, plants

75
Q

dioecious

A

either male or female reproductive structures but not both

76
Q

how does the heterogametic sex differ from homogametic sex

A

gametes of heterogametic sex have different sex chromosomes, gametes of homogametic sex have the same sex chromosome

77
Q

haplodiploidy system

A

haploid set- male
diploid set- female
bees

78
Q

turner syndrome

A

XO female

79
Q

dosage compensation

A

inactivation of 1 X chromosome to compensate for different X dosage between the sexes

80
Q

Lyon hypothesis

A

named after Mary Lyon suggested that dosage compensation in mammals by inactivation of all but 1 X chromosome in cells with more than one X chromosome. theBarr body visible in some female mammalian cells is an inactivated X chromosome

81
Q

Mosaicism

A

a condition in which cells with in the same person have different genetic makeup
when different X chromosomes are inactivated in neighboring cells

82
Q

genetic linkage

A

the tendency of alleles that are located close together on a chromosome to be inherited together during meiosis. linked genes will segregate together and not obey mendels second law

83
Q

linkage disequilibrium

A

the non-random association of alleles at different loci. Loci are said to be in linkage disequilibrium when the frequency of association of their different allele is higher or lower that what would be expected if the loci were segregating independently

84
Q

non-mendelian inheritance

A

refers to any patter of inheritancein which traits do not segregate in accordance with Mendel’s laws

85
Q

complete dominance

A

phenotype of the heterozygote is the same as the phenotype of one of the homozygotes

86
Q

incomplete dominance

A

phenotype of the heterozygote is intermediate (falls within the range) between the phenotypes of the two homozygotes

87
Q

codominance

A

phenotype of the heterozygote includes the phenotypes of both homozygotes

88
Q

penetrance

A

the percentage of individuals having a particular genotype that express the expected phenotype

89
Q

expressivity

A

the degree to which a character is expressed

90
Q

complete penetrance

A

everyone who inherits the disease causing alleles has some symptoms

91
Q

incomplete penetrance

A

some individuals do not express the phenotype even though they inherit the alleles ex: polydactyly

92
Q

variable expression

A

symptoms vary in intensity in different people

ex: two extra digits vs three

93
Q

lethal allele

A

causes death at an early stage of development and so some genotypes may not appear among progeny

94
Q

gene interaction

A

effects of genes at one locus depend on the presence of genes at other loci

  • gene interaction can produce novel phenotype
  • gene interaction with epistasis: one gene masks the effect of another
95
Q

epistasis

A

one gene masks or influences the effect of another gene

ex: coat color in dogs

96
Q

recessive epistasis

A

recessive alleles at one locus mask the mask the phenotypic locus of other gene locus

ex: bombay blood type– no H antigen made

97
Q

dominant epistasis

A

when the dominant allele masks the expression of all alleles of another gene

ex: summer squash need two enzymes to get yellow color if you only have one you get green but if you have a dominant W allele it blocks the whole cascade and you get a white squash

98
Q

duplicate recessive epistasis

A

9:7 ratio when recessive alleles at either two loci can mask the expression of dominant alleles at the two loci
A.K.A complementary epistasis

ex: snails - to get a brown snail you have to have 2 enzymes so at least one dominant allele is needed at each locus to get brown snails. if either locus is homozygous recessive you get white snail

99
Q

pleiotropy

A

one gene is able to affect multiple phenotypic characters

100
Q

complementation

A

occurs when two strains of an organism with different homozygous recessive mutations that produce the same mutant phenotype produce offspring with the wild type phenotype when mated or crossed
ex: change in wing structure in flies

101
Q

sex- influenced traits

A

are controlled by genes present on autosomes hence such genes are present in both sexes but their expression is different in males vs. females usually because the expression responds differently to androgens and estrogens
Ex: soft vs coarse facial hair, male pattern baldness

phenotype determined by: autosomal genes that are more readily expressed in one sex

102
Q

sex-limited characteristics

A

characteristics are inherited according to mendel’s principles
-precocious puberty

phenotype determined by: autosomal genes whose expression is limited to one sex

103
Q

genomic imprinting

A

differential expression of genetic material depending on whether it is inherited from the male or female parent

104
Q

epigenetics

A

phenomena due to alterations to DNA that do not include changes in the base sequence often affect the way in which the DNA sequences are expressed

105
Q

IGF2

A

protein hormone involved in the regulation of cell proliferation, growth, migration, differentiation, and survival. preferentially expressed in early embryonic and fetal development and in a wide variety of somatic tissues. exclusively from paternal allele

106
Q

anticipation

A

a genetic trait becomes more strongly expressed or is expressed at an earlier state as it is passed from generation to generation
-occurs due to expansion of an unstable region of DNA from generation to generation
Ex- fragile X, Huntingtons, friedreich ataxia, myotonic dystrophy

107
Q

Fragile X

A

genetic disorder which occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the X chromosome, most commonly an increase in the number of CGG trinucleotide repeats in the 5” untranslated region of FMR1. most common cause of inherited learning difficulties

108
Q

temperature dependent sex determination

A

changes in temperature during embryogenesis change gene expression resulting resulting in a significant change in phenotype

109
Q

temperature sensitive allele

A

an allele whose product is functional only above or below a threshold temperature
Ex: simese cats and himalayan rabbits

110
Q

discontinuous characteristics

A

relatively few phenotypes

111
Q

continuous characteristics

A

continuous distribution of phenotypes; occurs when genes at many loci interact

112
Q

polygenic characteristics

A

characteristics encoded by genes at many loci

113
Q

heterosis

A

A.K.A- hybrid vigor
is the improved or increased function of any biological quality in a hybrid offspring of pure bred strains
-opposite of inbreeding
-increase of heterozygosity improves such characteristics as size, growth rate, or yield of a hybrid organism over either of its parents
-ex: mule

114
Q

adermatoglyphia

A

the absence of ridges on the skin on the pads of the fingers and toes

gene: SMARCAD1

115
Q

pedigree chart

A

a document used by genealogist in study family history

116
Q

pedigree

A

pictorial representations of a family hx, a family tree that outlines inheritance of one or more characteristics

117
Q

proband

A

the person from whom the pedigree is initiated

118
Q

common rule

A

requirements for assuring compliance by research institutions, requirements for researchers obtaining and documenting informed consent, requirements for IRB membership, function, operations, review of research, and record keeping, additional protection for certain vulnerable subjects- pregnant women, prisoners, and children

119
Q

autosomal recessive traits

A

normally appear with equal frequency in both sexes and seem to skip generations

120
Q

autosomal dominant traits

A

normally appear with equal frequency in both sexes and don’t skip generations
Ex: familial hypercholesterolemia: very high levels of LDL

121
Q

X-linked recessive traits

A

appear more often in males than in females and are not passed from father to son
Ex: Duschenne’s MD, hemophilia

122
Q

X-linked hypophosphatemia

A

ex: of X-linked dominant disorder

form of rickets that differs bc ingestion of vitamin D doesn’t really help

123
Q

Y-linked traits

A

appear only in males and are passed from father to all of his sons

124
Q

dizygotic twins

A

not identical

125
Q

monozygotic twins

A

identical

126
Q

concordant trait

A

a trait shared by both members of a twin pair

127
Q

concordance

A

the percentage of twin pairs that are the same for a trait

128
Q

chorionic villus sampling

A
  • CVS can be performed early in pregnancy
  • under US guidance a catheter is inserted through the vagina and cervix into the uterus
  • placed into contact with the chorion, the outer layer of the placenta
  • suction removes a small piece of chorion
  • cells of chorion are used directly for many genetic tests and culturing is not required
129
Q

Amniocentesis

A
  • under US guidance a sterile needle is inserted through the abd wall into the amniotic sac
  • a small amount of fluid is withdrawn through the needle
  • the amniotic fluid contains fetal cells which are separated from the amniotic fluid
  • cultured cells
  • tests are performed on cultured cells
130
Q

Recombination

A

alleles sort into new combinations

131
Q

complete linkage

A

leads to nonrecombinant gametes and nonrecombinant progeny

132
Q

crossing over

A

disrupts linked and leads to recombinant gametes and recombinant progeny

133
Q

single crossover

A

half nonrecombinant gametes and half recombinant gametes

134
Q

calculating recombination frequency

A

recombination= (No. recombinant progeny/total no. of progeny) x 100%

135
Q

coupling (cis configuration)

A

one chromosome contains both wild type alleles, one chomosome contains both mutant alleles

136
Q

repulsion (trans configuration)

A

wild-type allele and mutant allele are found on the same chromosome

137
Q

genetic maps

A

are determined by recombinant frequency

map unit or centimorgan= crossover frequency of .01 in a single generation

138
Q

physical maps

A

are determined by nucleotide position

139
Q

coefficient of coincidence

A

number of observed double crossovers/number of expected double crossovers

140
Q

interference

A

1- coefficient of coincidence

141
Q

two-stand double cross over

A

0% detectable recombinants

142
Q

three-strand double cross over

A

50% detectable recombinants

143
Q

four-strand double cross over

A

100% detectable recombinants

50% average detectable recombinants

144
Q

nail-patella syndrome

A

autosomal dominant- poorly developed nails and patellas, linkage between ABO blood types

145
Q

haplotype

A

a set of DNA variations or polymorphisms that tend to be inherited together

146
Q

genomic wide association studies (GWAS)

A

examine genetic sequence variants across the entire genome to find those that are associated with a trait or disease

147
Q

karyotyping

A

chromosomes prepared form actively dividing cells, halted in metaphase with colchicine, chromosomes arranged according to size

148
Q

Banding

A

G bands: giemsa stain, heterochromatin stains dark euchromatin stains light
Q bands: quinacrine stain, AT rich regions
C bands: reveals centromeric heterochromatin
R bands: regions rich in C-G base pairs
T bands: telomeric banding after heat denaturation

149
Q

aneuploidy

A

loss or gain of chromosomes

causes: deletion of centromere during mitosis, robertsonian translocation, nondisjunction during meiosis and mitosis

150
Q

polyploidy

A

those containing more than two complete paired homologous sets of chromosomes

151
Q

deletion

A

loss of chromosomal segments

effects: imbalances in gene products, expression of normally recessive gene (pseudodominance), haplosufficiency

152
Q

paracentric inversion

A

an inversion in which the breakpoints are confined to one arm of a chromosome, the inverted segment does not span the centromere

153
Q

pericentric inversion

A

an inversion in which the breakpoints occur on both arms of a chromosome, the inverted segment spans the centromere

154
Q

robertsonian translocation

A

rare chromosomal rearrangements that in humans generally occur in the five acrocentric chromosomes 13, 14, 15, 21, 22

155
Q

reciprocal translocation

A

an exchange of material between two nonhomologous chromosomes

156
Q

nonreciprocal translocation

A

transfer of genes from one chromosome to another nonhomologous chromosome

157
Q

Dicentric

A

a fragment results without a centromere and the other had 2 centromeres
results in nonfxn’l gametes

158
Q

nullisomy

A

loss of both members of a homologous pair of chromosomes

2n-2

159
Q

monosomy

A

loss of a single chromosome

2n-1

160
Q

trisomy

A

gain of a single chromosome

2n+1

161
Q

tetrasomy

A

gain of two homologous chromosomes

2n+2

162
Q

autopolyploidy

A

from a single species

163
Q

allopolyploidy

A

from 2 or more species

164
Q

medical cytogenetics

A

part of clinical medicine that studies a relationship between chromosomal alterations and genetic diseases in humans

165
Q

fluorescence in situ hybridization (FISH)

A

technique in which DNA probe containing 1 or more genes is labeled with fluorescent dye and then hybridized to interphase or metaphase cells, used to detect small regions of deletions or duplications, used to examine specific regions of the genome in non-dividing tissues, used to map genes

166
Q

constitutional cytogenetic abnormality

A

homogenous abnormality- anomaly in oocyte formation

mosaic abnormality- anomaly in zygote formation

167
Q

acquired chromosomal

A

anomaly in somatic cells

Genetics (2 decks)

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