Genetics Flashcards

1
Q

who was the father of genetics

A

Mendel, an 1800s monk who studied plant breeding and statistics

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2
Q

19th century theories of inheritance

A

blending

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3
Q

Mendel’s studies showed

A

Particulate inheritance..

Inheritance of discrete units (genes)

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4
Q

allele

A

version of a gene

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5
Q

true breeding

A

both alleles are the same

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6
Q

hybrid

A

produced by crossing 2 true breeding parents (have one of each allele

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7
Q

p generation

A

parent generation

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8
Q

F1 generation

A

offspring of P

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9
Q

F2 generation

A

offspring of 2 F1 individuals (brother sister)

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10
Q

phenotype

A

physical appearance

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11
Q

genotype

A

describe genes

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12
Q

In mendelian genetics how what is required for dominant and recessive genes to be expressed

A

Dominant genes require 1 copy to be expressed

recessive genes are only expressed if an individual gets 2 copies of the recessive gene

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13
Q

What letters express dominant and recessive genes

A

CAPITAL for dominant

lower for recessive

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14
Q

what are the three genotypes

A
homozygous dominant (AA) 
homozygous recessive (aa) 
heterozygous (Aa)
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15
Q

what genotypes are true breeding and which are hybrid

A

homozygous dominant and homozygous recessive are true breeding. Heterozygous are hybrid

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16
Q

Flower parts;
stigma
stamen

A

stigma-female part

stamen- male part

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17
Q

mendels experiment

A

Plants self-pollinate

so To make crosses Mendel cut off stamens and cross-pollinated artificially

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18
Q

Each pea seed contains

A

an embryo:

An offspring

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19
Q

Mendel found

A

No blending, flowers one color or the other.

2) All F1 looked same : called that trait dominant
3) the other trait was hidden in some of the F1s but was passed on to F2: called that trait recessive

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20
Q

Law of segregation

A

each parent only gives one of their genes to the offspring hence..
the 2 parental genes must be separated from each other (segregated from each other)

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21
Q

F2 crosses led Mendel to formulate

A

the Law of Independent Assortment

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22
Q

Punnett squares

A

Analytical tool for determining probabilities of inheritance

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23
Q

what goes on the sides of the Punnett square

A

ALL possible Gametes go on top and sides of square …gametes are (1n) so only one letter

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24
Q

Boxes inside square represent

A

possible offspring

So each must get 2 copies of gene (2n) so 2 letters

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25
Ratio of possible offspring in box is
The probability that that type of offspring will be produced
26
purpose of test crosses
done to determine genotype
27
how to do test crosses
Cross unknown individual with homo recessive | if any recessive phenotype offspring then ..Unknown is heterozygous
28
monohybrid cross
only looks at one gene
29
dihybrid cross
looks at probability of inheriting certain alleles of 2 different genes
30
Dihybrid Punnett squares
All possible gametes on top Heterozygous for both traits makes ..4 different gametes Each box is a zygote so needs 2 copies of each gene
31
multiplication rule
To determine the chances of 2 different events happening together… Multiply the probabilities of each event P to get A & B = Probability A x Probability B
32
addition rule
If more than one way to get a desired outcome…. | Add the probabilities of each way together.
33
non mendelian genetics
Any genes that are not straight forward dominant or recessive allele
34
6 different non mendelian genetics
1) Incomplete dominance 2) Co-dominance 3) Multiple alleles 4) Polygenic traits 5) Linked genes 6) Sex linked genes
35
incomplete dominance
``` Neither allele completely dominates the other NO recessive (hidden) allele Both traits are partially expressed (blending) ```
36
letter symbols for incomplete dominance
must be same letter…same gene must both be capital letters ……….not recessive use superscripts to differentiate alleles
37
co dominance
2 alleles both fully expressed (NO blending) | spotted instead of blended
38
Multiple alleles and Co-Dominance
Human ABO blood types 3 alleles ….. 2 dominant and one recessive Gene designated as letter I for inherited antigenic substance
39
polygenic traits
traits controlled by more than one gene Multiple genes determine the phenotype Example skin color in humans. Phenotypes show a range of many different each only slightly different from the next
40
linked genes
genes with loci on the same chromosome | more likely to be inherited together than alleles on different chromosomes
41
The only way liked alleles do NOT end up in the same gamete is if
crossing over takes place
42
sex linked genes
``` Genes on X or y chromosome Most often on X y very small mostly codes for male trait Writing sex linked genotypes : XX and Xy Use superscripts to designate alleles ```
43
who produced the first solid evidence for Chromosome Theory of Inheritance
morgan
44
what experiment for Chromosome Theory of Inheritance
Used fruit flies… Found mutant male w/ white eyes Crossed mutant male with normal female w+ x w all F1 had red eyes so Trait is recessive F2 generation…. Some white but only males so differences between sex
45
why were fruit flied a good choice
``` good choice because… produce hundreds of offspring mature quickly small /cheap only 4 chromosomes (3 autosomes, Xy) mutations created new phenotypes ```
46
Natural phenotypes are called
wild type (+)
47
morgan tried a reciprocal cross
Change which parent has the mutation all males got white eyes Supports Chromosomal Theory of Inheritance
48
Chromosomal Theory of Inheritance
individual genes are carried by specific chromosomes
49
New alleles created by mutation
May be helpful, harmful, lethal, or silent May be dominant or recessive Some cause genetic disorders
50
New alleles created by mutation: ones to know
``` cystic fibrosis sickle-cell disease/trait achondroplasia Huntington’s disease Hemophilia ```
51
Cystic Fibrosis
``` Most common lethal disorder in U.S.A. 4% of European Americans carriers Recessive mutant gene for cell membrane protein Chloride channels fail = thick mucus Problems with lungs & pancreas Chronic illness shortened life span With treatment 50% survival to 30s Research into gene therapy promising ```
52
Sickle Cell Anemia
Most common disorder of African Americans 0.1 % African Americans have sickle cell trait Co-Dominant mutation to Hemoglobin gene One single nucleotide is substituted Changes one amino acid Mutated hemoglobin causes RBC to sickle and block capillaries if anaerobic
53
Sickle Cell Genes are
co dominant
54
sickle cell genes
``` Hn = normal hemoglobin Hs = mutated hemoglobin HnHn = normal HnHs = sickle cell trait HsHs = sickle cell disease….organ/brain damage ```
55
malaria
Protist parasite that lives in RBC
56
heterozyote advantage
HnHs = reduced parasite densities in blood… better survival rates Linked to improved malaria survival
57
Achondroplasia
(w/o cartilage formation) Dominant mutation in gene that forms cartilage into bone Heterozygotes = short appendages Homozygous dominant = still born 80% new mutations, 20% inherited from parent
58
Huntington’s disease
Lethal dominant allele Late onset so gene is passed on before onset Mutated Huntington protein causes brain damage and is fatal Genetic test available
59
Hemophilia
X-linked recessive mutation Mutant clotting factor No treatment = 11 year life expectancy Now nearly normal with treatment
60
Environmental & Genetic disorders
Different alleles predispose to a disorder Environmental factors determine if disorder is expressed Multifactorial disorders Most are polygenic Cardiovascular health, cancer, alcoholism, bipolar disorder
61
Genetic counseling
Use pedigrees to determine genotypes
62
Pre-conception genetic testing
fertility drugs cause multiple eggs to complete meiosis I and emerge from ovary eggs collected by surgery polar body tested for known genetic defect if mom is heterozygous and defect is in polar body, then egg is healthy
63
Genetic Testing Embryo
Embryos created by invitro fertilization At 8 cell stage one cell is removed and tested (day 3) Only healthy embryos implanted into mom
64
Genetic Testing of Fetus
Chorionic Villi Amniocentesis
65
Chorionic Villi
sampling removes fetal cells from placenta (10-12 weeks) use suction tube
66
Amniocentesis
samples fetal cells from amniotic fluid (15-18 weeks) long needle
67
by 15 weeks
4 inches long 1.7 ounces