Lecture 2 Review

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name components of DNA i.e. DNA consists of what components

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Gene and Genetic Disease

141 Terms

1

name components of DNA i.e. DNA consists of what components

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2

what is gene

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3

what is transcription and where in the cell it takes place

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4

what is codon

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5

what is translation and where it takes place

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6

what is replication and how it occurs

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7

what is complementary base pairing

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8

a biologist is explaining how RNA directs the synthesis of protein. which process is the biologist describing

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9

what are the differences between DNA and RNA

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10

what is mutation

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11

what is polygenic traits

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12

list the different types of mutation

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13

what is mutagen

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14

what is base pair substitution

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15

what is frameshift mutation

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16

what is the difference between base pair mutation and frameshift mutation

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17

an XXY person has which syndrome

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18

what is meiosis and where it occurs

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19

what is mitosis and where it occurs

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20

what is somatic cell and what are gametes

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21

autosome chromosomes vs sex chromosomes

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22

what is karyotype

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23

explain euploid cells and polyploidy cells

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24

what is aneuploid and what causes aneuploid

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25

what is disjunction and nondisjunction

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26

trisomy occurs most commonly with which chromosomes

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27

what are the most common symptoms of Down syndrome

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28

what results in Down syndrome

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29

a cell that does not contain a multiple of 23 chromosomes. what term defines this

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30

Klinefelter syndrome is the result of

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31

what is the chromosomal variation that causes Klinefelter syndrome

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32

what is the most common cause of Down syndrome

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33

a 15-year-old female is diagnosed with Prader-Willi syndrome. this condition is an example of which genetic disorder

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34

explain how Turner syndrome occurs and what are the symptoms of Turner syndrome

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35

explain the terms homozygous, heterozygous, recessive, and dominant

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36

what is the key feature of Huntington disease

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37

in genetics, what is co-dominant and how is it related to blood type determination

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38

Cri du Chat syndrome is due to

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39

a normal male and a female carrier for red-green color blindness mate. what is the likelihood of their children being affected

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40

a couple has three offspring

one child with an autosomal dominant disease trait and two who are normal. the father is affected by the autosomal dominant disease but the mother does not have the disease gene. what is the recurrence risk of this autosomal dominant disease for their next child

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41

explain the terms duplication, inversion, and translocation associated with the alteration of chromosome structure

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42

what term describes a condition when homologous chromosomes fail to separate during meiosis

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43

what are fragile sites and what is Fragile X syndrome

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44

what is the second most commonly recognized genetic cause of mental retardation

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45

explain the terms locus, allele, genotype, carrier, and phenotype

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46

who is more often affected by X-linked recessive genes, male or female

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47

in most cases of recessive disease both parents of affected individuals are heterozygous carriers. explain why

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48

name enzymes involved in DNA replication

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49

all living organisms use the same DNA codes to specify proteins. explain why

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50

trisomy of the 21st chromosome causes which syndrome

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51

Turner syndrome is caused by

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52

Klinefelter syndrome is caused by

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53

a person with at least two X chromosomes and one Y in each cell will have which syndrome

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54

a girl with a single X chromosome and no homologous X or Y so person only has 45 chromosomes will have which syndrome

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55

what are the 3 basic components of DNA

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56

what are the 4 nitrogenous bases

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57

how are the 2 strands of DNA held together in the double helix

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58

what is nucleotide

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59

adenine pairs with

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60

guanine pairs with

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61

explain why the genetic code is universal

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62

what is meant by complementary base pairing

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63

in DNA replication, which enzyme travels along DNA strand and adds correct nucleotide to the free end of the new strand

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64

a nurse is reviewing the pedigree chart. when checking for a proband what is the nurse looking for

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65

what is a mutation when one base pair is replaced by another

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66

base pair substitution where amino acid change doesn't occur is what type of mutation

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67

insertion or deletion of one or more base pairs to DNA molecule that can change the entire frame and greatly alter amino acid sequence is what type of mutation

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68

an agent that increases the frequency of mutation is called

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69

what is spontaneous mutation

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70

what is mutational hotspot

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71

what is heterogeneous nuclear RNA

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72

what happens in eukaryotic cells after transcription before mRNA is released into the cytoplasm

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73

the noncoding excised RNA sequences that are left in the nucleus are called

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74

the coding RNA sequences left to code for proteins are called

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75

a mutation that occurs in the absence of exposure to mutagens is called

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76

a newborn male is diagnosed with albinism based on skin, eye, and hair appearance. which finding will support this diagnosis

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77

an area of the chromosome that has high mutation rates is called

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78

DNA is formed and replicated in the

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79

the regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called

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80

where does protein synthesis occur

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81

a 20-year-old pregnant female gives birth to a stillborn child. autopsy reveals that the fetus has 92 chromosomes. what term may be on the autopsy report to describe this condition

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82

the following symptoms are typical for which genetic syndrome

high-pitched cry, low birth weight, severe mental retardation, microcephaly, heart defects, and facial feature of underdeveloped chin

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83

how is RNA different from DNA

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84

uracil pairs with

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85

a process by which RNA is synthesized from a DNA template and results in formation of mRNA is called

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86

what is the condition in which an extra portion of a chromosome is present in each cell called

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87

explain the mode of inheritance of hemophilia A

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88

explain the mode of inheritance of Duchenne muscular dystrophy (DMD)

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89

explain transcription process

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90

mRNA after it's first transcribed and an exact replica of the DNA sequence is called

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91

explain steps of translation

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92

a cloverleaf strand of about 80 nucleotides that has a site for the attachment of an amino acid is what type of RNA

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93

a patient age 9 is admitted to a pediatric unit with Duchenne muscular dystrophy. when planning care the nurse recalls the patient inherited this condition through a _____ trait

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94

where is anticodon found

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95

what are gametes

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96

what are somatic cells

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97

how many chromosomes are in the nucleus of a somatic cell

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98

a cell containing one member of each chromosome pair for a total of 23 chromosomes is termed

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99

which type of mutations will have the most significant effect on protein synthesis

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100

the following symptoms are typical for which genetic syndrome

taller than average male, long limbs, lower IQ

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