Study Guide 7! Flashcards

1
Q

How can we tell the genotype of an individual with the dominant phenotype?

A

perform a testcross

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2
Q

Testcross

A

breeding the mysterious individual with a homozygous recessive individual, if any offspring display the recessive phenotype, the mystery parent must be heterozygous

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3
Q

allele

A

alternative versions of a gene

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4
Q

law of independent assortment

A

during gamete formation the inheritance of one trait does not influence the inheritance of another trait; all possible combinations of alleles are equally likely to occur

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5
Q

law of segregation

A

during gamete formation, each parent passes one allele at random to their offspring

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6
Q

complete dominance

A

phenotype of heterozygote and dominant homozygote are identical

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7
Q

Incomplete Dominance

A

phenotype of hybrids is somewhere between the phenotypes of the two parents

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8
Q

Codominance

A

two dominant alleles affect the phenotype in separate, distinguishable ways

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9
Q

multiple alleles

A

occur when there are more than two versions of a gene, or alleles, for a trait in a population

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10
Q

qualitative traits

A

characteristics that can be categorized into distinct groups and are often controlled by a small number of genes

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11
Q

quantitative characters

A

phenotypic traits that can be measured numerically and are genetically more complex than qualitative traits

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12
Q

polygenic inheritance

A

a pattern of genetic inheritance where multiple genes control a trait or characteristic

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13
Q

Epistasis

A

gene at one location alters the phenotypic expression of a gene at a second location/locus

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14
Q

Norm of Reaction

A

the range of phenotypes that a single genotype can produce when exposed to different environmental conditions

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15
Q

multifactorial

A

conditions or traits caused by a combination of multiple genetic environmental factors

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16
Q

carriers

A

heterozygous people who carry the recessive allele but are phenotypically normal

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17
Q

________ increases the chance of two carriers mating

A

incest

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18
Q

cystic fibrosis definition

A

most common lethal genetic disease in the U.S, most common in European people, results in defective or absent chloride transport channels in plasma membranes

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19
Q

cystic fibrosis symptoms

A

mucus buildup in internal organs and abnormal absorption of nutrients in the small intestine

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20
Q

Sickle Cell Definition

A

mostly affects African-Americans, caused by the substitution of a single amino acid in the hemoglobin in red blood cells that causes the cells to look like sickles

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21
Q

sickle cell symptoms

A

physical weakness, pain, organ damage, paralysis

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22
Q

Huntington’s Disease

A

degenerative disease of the nervous system with no obvious phenotype effects until the person reaches 35-40

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23
Q

amniocentesis

A

fetal testing where the liquid in the belly is tested

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24
Q

chronic villus testing (CVS)

A

fetal testing where the placenta is tested

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25
what two tests allow the baby to be assessed in utero?
ultrasound and fetoscopy
26
transcription
synthesis of mRNA under the direction of DNA
27
translation
synthesis of polypeptides under the direction of mRNA, happens in the ribosome
28
Central Dogma
transcription translation DNA --------------> RNA -----------------> protein
29
codon
DNA or RNA sequence of three nucleotides (a trinucleotide) that forms a unit of genomic information encoding a particular amino acid or signaling the termination of protein synthesis (stop signals)
30
how many codons are there and how many do what function?
There are 64 different codons: 61 specify amino acids and 3 are used as stop signals
31
RNA polymerase
catalyzes RNA synthesis and pries the DNA strands apart and hooks the RNA nucleotides together
32
A pairs with... (DNA)
T
33
A pairs with... (RNA)
U
34
C pairs with...
G
35
promoter
DNA sequence where RNA polymeric attaches
36
terminator
sequence ending the end of transcription in bacteria
37
transcription unit
stretch if DNA that is transcribed
38
Stages of Transcription and translation
initiation, elongation, and termination
39
initiation in transcription
when RNA polymerase binds to a gene's promoter region to begin creating a strand of mRNA
40
elongation of transcription
RNA polymerase moves along a DNA strand and adds nucleotides to an RNA chain that's complementary to the DNA
41
RNA processing
in eukaryotes, adding a "cap" at the 5' end and a "poly-A tail" at the 3' end
42
RNA processing functions
facilitate export of mRNA, protect mRNA from hydrolytic enzymes, and helps ribosomes attach to the 5' end
43
introns
lond noncoding stretches of nucleotides that lie between coding regions in RNA
44
exons
coding sections of an RNA transcript, or the DNA encoding it, that are translated into protein
45
RNA splicing
removes introns and joins exons, creating an mRNA molecule with a continuous coding sequence done by spliceosomes
46
spliceosomes
consist of a variety of proteins and several small nuclear ribonucleoproteins (snRNPs) that recognize splice sites
47
domain
a specific region of a protein or a sequence of amino acids that is associated with a particular function or DNA segment
48
different exons code for different...
domains
49
What does tRNA do in translation?
matches amino acids with codons in messenger RNA (mRNA)
50
What two steps does accurate translation require?
a correct match between a tRNA and an amino acid and a correct match between the tRNA anticodon and an mRNA codon
51
what are the three binding sites for tRNA on ribosomes?
p site, a site, e site,
52
p site
holds the tRNA that carries the growing polypeptide chain
53
a site
holds the tRNA that carries the next amino acid to be added to the chain
54
e site
exit site where discharge tRNAs leave the ribosome
55
Translation Initiation Stage
the small ribosomal subunit binds to the mRNA molecule at the start codon (usually AUG), and the first tRNA carrying the amino acid methionine (Met) then attaches to the start codon, forming the initiation complex
56
Translation Elongation Stage
amino acids are added one by one to the growing polypeptide chain by matching tRNA molecules to their corresponding mRNA codons, forming peptide bonds between the amino acids, and then shifting the ribosome along the mRNA to read the next codon
57
Translation Termination Stage
the process ends when a stop codon (UAA, UAG, or UGA) on the mRNA enters the ribosome's A site, causing a release factor protein to bind and release the newly synthesized polypeptide chain, effectively detaching the completed protein from the tRNA and disassembling the translation complex
58
Polyribosomes
the result of many ribosomes translating a single mRNA simultaneously, enables a cell to make many copies of a polypeptide very quickly
59
where does polypeptide synthesis happen?
always begins in the cytosol and finishes there unless the polypeptide signals the ribosome to attach to the ER
60
non-disjunction
a cell division error that occurs when a pair of chromosomes fails to separate properly
61
when in meiosis can non-disjunction take place?
during anaphase I or II
62
what is the result of nondisjunction
cells with an abnormal number of chromosomes, either too many or too few
63
crossing over
the process where genetic material is exchanged between homologous chromosomes (one from each parent) during prophase I
64
recombinant chromosomes
chromosomes that have been created through crossing over
65
Chaismata
the point of contact between two (non-sister) chromatids belonging to homologous chromosomes - in the middle of the x
66
Why is the process of crossing over an adaptive advantage for a species?
it generates genetic diversity within a population
67
how is crossing over related to natural selection
it generates genetic variation within a population
68
What are the 6 advantages for using pea plants for genetic studies?
easy to grow, have a relatively short life cycle, produce large numbers of offspring, readily exhibit distinct, easily identifiable traits, and can be easily cross-pollinated by hand
69
how did Mendel control cross-pollination and self pollination
manually removing the anthers (male reproductive part) from the flowers of the plant he wanted to cross-pollinate, thus preventing self-pollination, and then carefully transferring pollen from the desired male plant onto the stigma (female reproductive part) of the recipient plant using a brush
70
P1 Generation
he parental generation, or the first generation in a cross-pollination experiment. The parents in this generation should be true bred so that their alleles are known
71
F1 generation
The first filial generation, or the first generation of offspring produced by the P1 generation
72
F2 Generation
the second filial generation, or the generation produced by the F1 generation
73
True Breeding
an organism that is homozygous for a specific trait and when self-fertilized or crossed with another true-breeding organism of the same trait, will consistently produce offspring with the same phenotype as the parents
74
Gene Locus
specific location of a gene on a chromosome
75
How is a punnet square used in genetic studies?
to visually represent and predict the possible genotypes and phenotypes of offspring resulting from a cross between two individuals with known genotypes
76
What experiments demonstrated independent assortment?
Mendel's dihybrid crosses
77
Why are humans not good subjects for genetic studies? -4
ethical concerns, their long lifespan making controlled breeding experiments impractical, the complex nature of human inheritance, and the difficulty of obtaining fully informed consent from participants for certain types of genetic research
78
What biological molecule links genotype and phenotype?
protein
79
gene expression
The process by which a gene gets turned on in a cell to make RNA and proteins
80
How many nucleotides correspond to an amino acid?
three
81
How is the genetic code considered redundant but not ambiguous?
because multiple codons can code for the same amino acid, and each codon always specifies only one specific amino acid
82
What molecule is a codon found on?
mRNA
83
tata box definiton
a DNA sequence that signals the start of transcription in genes
84
How does a tata box work?
acting as a signal for the binding of a protein complex called "transcription factor II D (TFIID)" which initiates the process of transcription by recruiting RNA polymerase to the correct location on the DNA to start reading the gene and producing RNA
85
anti-codon
sequence of three nucleotides in transfer RNA (tRNA) that matches a complementary codon in messenger RNA (mRNA) during protein synthesis