Genetics Flashcards

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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
Q

Ratio of possible offspring in box is

A

The probability that that type of offspring will be produced

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26
Q

purpose of test crosses

A

done to determine genotype

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27
Q

how to do test crosses

A

Cross unknown individual with homo recessive

if any recessive phenotype offspring then ..Unknown is heterozygous

28
Q

monohybrid cross

A

only looks at one gene

29
Q

dihybrid cross

A

looks at probability of inheriting certain alleles of 2 different genes

30
Q

Dihybrid Punnett squares

A

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
Q

multiplication rule

A

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
Q

addition rule

A

If more than one way to get a desired outcome….

Add the probabilities of each way together.

33
Q

non mendelian genetics

A

Any genes that are not straight forward dominant or recessive allele

34
Q

6 different non mendelian genetics

A

1) Incomplete dominance
2) Co-dominance
3) Multiple alleles
4) Polygenic traits
5) Linked genes
6) Sex linked genes

35
Q

incomplete dominance

A
Neither allele completely dominates the other
NO recessive (hidden) allele
Both traits are partially expressed (blending)
36
Q

letter symbols for incomplete dominance

A

must be same letter…same gene
must both be capital letters ……….not recessive
use superscripts to differentiate alleles

37
Q

co dominance

A

2 alleles both fully expressed (NO blending)

spotted instead of blended

38
Q

Multiple alleles and Co-Dominance

A

Human ABO blood types
3 alleles ….. 2 dominant and one recessive
Gene designated as letter I for
inherited antigenic substance

39
Q

polygenic traits

A

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
Q

linked genes

A

genes with loci on the same chromosome

more likely to be inherited together than alleles on different chromosomes

41
Q

The only way liked alleles do NOT end up in the same gamete is if

A

crossing over takes place

42
Q

sex linked genes

A
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
Q

who produced the first solid evidence for Chromosome Theory of Inheritance

A

morgan

44
Q

what experiment for Chromosome Theory of Inheritance

A

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
Q

why were fruit flied a good choice

A
good choice because…
     produce hundreds of offspring
     mature quickly
     small /cheap
     only 4 chromosomes (3 autosomes, Xy)
     mutations created new phenotypes
46
Q

Natural phenotypes are called

A

wild type (+)

47
Q

morgan tried a reciprocal cross

A

Change which parent has the mutation
all males got white eyes
Supports Chromosomal Theory of Inheritance

48
Q

Chromosomal Theory of Inheritance

A

individual genes are carried by specific chromosomes

49
Q

New alleles created by mutation

A

May be helpful, harmful, lethal, or silent
May be dominant or recessive
Some cause genetic disorders

50
Q

New alleles created by mutation: ones to know

A
cystic fibrosis
sickle-cell disease/trait
achondroplasia
Huntington’s disease
Hemophilia
51
Q

Cystic Fibrosis

A
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
Q

Sickle Cell Anemia

A

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
Q

Sickle Cell Genes are

A

co dominant

54
Q

sickle cell genes

A
Hn = normal hemoglobin
Hs = mutated hemoglobin
HnHn = normal
HnHs = sickle cell trait
HsHs = sickle cell disease….organ/brain damage
55
Q

malaria

A

Protist parasite that lives in RBC

56
Q

heterozyote advantage

A

HnHs = reduced parasite densities in blood…
better survival rates
Linked to improved malaria survival

57
Q

Achondroplasia

A

(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
Q

Huntington’s disease

A

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
Q

Hemophilia

A

X-linked recessive mutation
Mutant clotting factor
No treatment = 11 year life expectancy
Now nearly normal with treatment

60
Q

Environmental & Genetic disorders

A

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
Q

Genetic counseling

A

Use pedigrees to determine genotypes

62
Q

Pre-conception genetic testing

A

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
Q

Genetic Testing Embryo

A

Embryos created by invitro fertilization
At 8 cell stage one cell is removed and tested (day 3)
Only healthy embryos implanted into mom

64
Q

Genetic Testing of Fetus

A

Chorionic Villi Amniocentesis

65
Q

Chorionic Villi

A

sampling removes fetal cells from placenta (10-12 weeks) use suction tube

66
Q

Amniocentesis

A

samples fetal cells from amniotic fluid (15-18 weeks) long needle

67
Q

by 15 weeks

A

4 inches long 1.7 ounces