mi unit 2

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81 Terms

1

karotype

A picture of all the chromosomes in a cell arranged in pairs

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2

Pedigree

A chart or "family tree" that tracks which members of a family have a particular trait

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3

affected pedigree

is shaded/colored

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4

Carrier in pedigree

Half-Shade

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5

Unaffected pedigree

unshaded

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6

multifactorial

determined by many factors, both genetic and environmental, collectively influence phenotype

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7

Diabetes, Dementia, High Blood Pressure are types of what disorders

multifactorial disorders

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8

single gene

change or mutation in one gene

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9

single gene recessive trait examples

sickle cell and cystic fibrosis

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10

single gene dominant trati examples

dwarfism and huntington's disease

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11

sex-linked trait

passed on the sex chromosomes (the X or the Y)

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12

why do males more affected by sex linked trait diseases?

because women have 2 X chromosomes and only need one to function while men have only 1 X-chromosome

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13

mitochondrial disorders

Leber's heditatry optic nueropathy

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14

sex linked trait examples

colorblindness, duchenne muscular dystrophy and hemophilia

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15

what disorder is only passed from mother to child?

mitochondrial disorders

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16

chromosomal disorders

not having enough or having extra chromosomes

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17

what are some examples of chromosomal disorders?

Down Syndrome, Turner's Syndrome, Klinefelter's Syndrome

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18

how are chromosomal disorders revealed?

karotypes

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19

what do we use to find out abt diseases?

genetic screening

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20

Carrier Screening

test that is typically done on adult couples who are considering having children and want to determine if those children could inherit any diseases.

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21

how is carrier screening done?

blood sample is drawn, DNA is extracted and amplified using PCR, and then DNA goes under testing for diseases.

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22

Preimplantation Genetic Diagnosis (PGD)

often used by people with known autosomal dominant or sex-linked conditions that they do not want to pass on to their children

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23

How is PGD done?

eggs are fertilized in a vitro dish and after they are developed, a single cell from each embryo is removed, amplified, and tested for the trait the parents dont want to pass

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24

Fetal Screening/Prenatal diagnosis is performed when?

when fetuses are inside the mommy

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25

amniocentesis

needle puncture of the amniotic sac to withdraw amniotic fluid for analysis

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26

When is amniocentesis performed?

14-20 weeks

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27

chorionic villus sampling

the examination of cells retrieved from the placenta

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28

what are risks of getting amniocentesis chorionic villus sampling?

miscarriage

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29

Newborn screening

the testing of infants shortly after birth

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30

how do we do newborn screening?

A small sample of blood is taken from the baby, and DNA is isolated from it for testing purposes

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31

Newborn screening is used for what?

for inherited diseases if the parents choose not to implement measures that complete this testing while the baby is still in utero

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32

What does PCR stand for

polymerase chain reaction

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33

What do we use for PCR?

taq polymerse, DNA primers, and DNA nucleotides

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34

what is the first step of PCR

denaturation

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35

what is denaturation

high temperature breaks hydrogen bonds that hold the double stranded DNA together.

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36

Second step of PCR

annealing

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37

what is annealing

dna primers are added to the dna mixture and dna primers are binding to dna

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38

why is dna primer present?

so taht the DNA is reading for copying

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39

what is the 3rd step of PCR

extension

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40

what is extension?

taq polymerse is used to copy bacterial dna before bacterial cells divide.

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41

what is genotype

genetic code for traits that we possess

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42

testing for traits in the lab can be done with what?

gel electrophoresis

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43

what does centrifugation do?

separates DNA from cell waste

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44

why are restriction enzymes used for gel electrophoresis for gene testing?

so that different versions of the gene, "bad" or "good", can be distinguished

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45

what does the end result of gel electrophoresis determine?

reveals the genotype of the individual being tested

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46

what trimester is critical during pregnancy?

the first

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47

what is gene therapy?

the transplantation of normal genes into cells in place of missing or defective ones in order to correct genetic disorders.

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48

what are vectors

viruses

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49

type of vectors?

retroviruses, adenoviruses, adeno-associated viruses, herpes simplex viruses, liposomes, and naked DNA.

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50

purpose of vectors?

providing unaffected genes to people carrying specific genes

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51

sperm sorting

a method of separating sperm that carry Y chromosomes from sperm that carry X chromosomes; you can choose gender of the baby

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52

plasmid and liposome

-can be any size -dna -dont generate immune response -dont do genome integration -less efficient, therefore result in low protein levels

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53

Herpes virus

-dna -double stranded -only infects nervous cells -creates immune response

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54

adenovirus

-dna -double stranded -can enter differing cell types -creates immune response -results in high levels of protein

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55

Retrovirus

-rna -only infects dividing cells -creates immune response -integrate with genes randomly

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56

Adeno-associated virus

-dna -single stranded -can enter different amount of cells -create permanent genome integration

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57

Lentivirus

-rna -can enter different types of cells -integrates with genes randomly

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58

Cystic Firbrosis

an inherited disease that affects glands, causing buildup of mucus, which blocks the ducts

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59

cystic fibrosis means a lack of what?

CFTR gene which controls salt and balance of water in the body

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60

what vector should be used for cystic fibrosis?

adeno-associated

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61

which screening method removes cells from the placenta?

chronic villus sampling

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62

which method removes amniotic fluid for testing?

amniocentesis

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63

which screening method is the least risky/invasive

ultrasound

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64

a single cell is taken from an embryo and tested for genetic abnormalities. what method was used?

pre-implantation genetic diagnosis (PGD)

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65

which disorder is caused by an extra chromosome

down syndrome

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66

which disorder is considered to be multifactorial

alzeheimer’s disease

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67

what is not a step in PCR

sequencing

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68

what causes DNA fragments to separate in each lane of an agase gel?

electrical current

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69

dna fragments separate during gel electrophoresis according to their…

size

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70

what are the correct pcr steps

denaturation, annealing, extension

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71

what type of genetic disorder is the best target for gene therapy?

single gene mutation

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72

which is not an important consideration when choosing a gene therapy vector

whether its RNA or DNA

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73

which 2 techniques can be used to select the sex of the baby

sperm sortinga and PGD

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74

what kind of genetic disorder is down syndrome

chromosomal

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75

what kind of genetic disorder is cystic fibrosis

single gene recessive

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76

what pre-natal screening/testing can be done earlier during pregancy

CVS

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77

which gene therapy vector carries single stranded rna

retrovirus

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78

what gene vector would be ideal for inserting a gene that was 18500 base pairs long

herpes-simplex virus

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79

what kind of genetic disorder can be detected with a SNP analysis and gel electrophoresis?

single gene

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80

what genetic disorder can be detected with a karotype

chromosomal

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81

which occur when gametes are fertilized in a dish in the lab which result in a zygote

IVF

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