Physiologyexam1_Dna

Front 1

Reads the DNA strands and lays down a complementary base

Back 1

DNA polymerase (2 polymerases used – 1 for leading & 1 for lagging)

Front 2

Creates a small RNA “oligo” which binds onto the DNA and allows the DNA polymerase to attach to the DNA strand

Back 2

RNA polymerase (Primase)

Front 3

It is the enzyme that melts or unzips the double helix DNA

Back 3

Helicase

Front 4

It joins up the fragments of DNA made during replication of the lagging strand of DNA

Back 4

DNA ligase

Front 5

Large holoenzyme of 10 different proteins –

Back 5

DNA polymerase III

Front 6

It is the 3 subunits of core polymerase (DNA Polymerase III)

Back 6

(alpha, epsilon, sigma)

Front 7

The active site for nucleotide in the core polymerase –

Back 7

alpha

Front 8

3’ to 5’ exonuclease that removes incorrectly added nucleotides

Back 8

“proof-reading” epsilon

Front 9

Function not known –

Back 9

sigma

Front 10

The beta subunit of the holoenzyme forms a donutlike clamp around the parental DNA –

Back 10

forms a beta clamp

Front 11

What are the 6 remaining subunits form a gamma complex –

Back 11

1. loads the Beta clamp onto the DNA strand at the RNA primers 2. take the clamp back off

Front 12

What are the types of RNA?

Back 12

mRNA, rRNA, tRNA

Front 13

It is the majority of RNA –

Back 13

mRNA

Front 14

Carries the genetic information which will be translated into a protein sequence -

Back 14

mRNA

Front 15

Defined by the presence of a cap at its 5’ end and a long tail of adenines at its 3’ end = poly-A trail –

Back 15

mRNA

Front 16

Combines together with the large and small ribosomal subunits to form the functional ribosome (protein translation) –

Back 16

rRNA

Front 17

Actually translates the message coded in the mRNA into a protein sequence which will become a function protein –

Back 17

tRNA

Front 18

It is the RNA enzyme that binds to one of the DNA strands –

Back 18

RNA polymerase II

Front 19

What are the several proteins that helped the polymerase in its job –

Back 19

transcription factors

Front 20

What are the parts that comprised the human genes? –

Back 20

promoter sequence, enhancer region, coding sequence

Front 21

It is the part of human gene that used for the binding of the RNA polymerase II –

Back 21

promoter sequence

Front 22

It is the polymerase part of the human gene that recognizes a specific sequence of nucleotides –

Back 22

promoter sequence

Front 23

It is the polymerase part of the human gene that help enhance transcription (site of repression also) –

Back 23

enhancer region

Front 24

It is part of the human gene that gives rise to protein strand (contains regions of code & junk codes) –

Back 24

coding sequence

Front 25

What do you call the regions that contains codes –

Back 25

exons

Front 26

What do you call the regions that contain junk codes –

Back 26

introns

Front 27

What is the molecules that spliced out all the junk introns out of the mRNA –

Back 27

snRNA molecules

Front 28

True or False – after splicing out junk introns, one gene can give rise to multiple proteins –

Back 28

TRUE

Front 29

What are the nucleotides sequence that are require for splicing, since it is not random splicing –

Back 29

splice sites

Front 30

It is the process of converting an mRNA message into a strand of amino acids that will be processed into a mature functional protein –

Back 30

translation

Front 31

It is performed by the ribosome in combination with tRNA molecules –

Back 31

Translation

Front 32

What do you call the 3 nucleotides that the mRNA nucleotide sequence is read –

Back 32

codons

Front 33

It is called the genetic code, that each codes for 1 to 20 amino acids that make up proteins –

Back 33

codons

Front 34

What is a Third Codon Wobble –

Back 34

it is the case where the first 2 nt’s from codon to codon do not change, it’s only the 3rd nt that defines the resulting amino acid.

Front 35

What are the two elements that needed into translation? –

Back 35

tRNA and the ribosome

Front 36

What are the two sites of tRNA that involved in protein translation?

Back 36

Anti-codon site and amino acid site

Front 37

It recognizes a specific codon within mRNA –

Back 37

anti-codon site

Front 38

It carries the amino acid the codon specifies –

Back 38

amino acid site

Front 39

Composed of two subunits of proteins (large and small) linked together with a piece of rRNA –

Back 39

Ribosomes

Front 40

What are two sites found in the large subunit of ribosomes that are used for the binding of tRNA –

Back 40

P & A sites

Front 41

What is the start codon where the translation starts –

Back 41

AUG (methionine)

Front 42

It is forms between the methionine and the new AA –

Back 42

peptide bond

Front 43

This is the site in the ribosome contains the old tRNA with an AA attached –

Back 43

P site

Front 44

This is the site in the ribosome for the new incoming tRNA –

Back 44

A site

Front 45

It is form between two Amino Acids –

Back 45

peptide bond

Front 46

What are the stop codons –

Back 46

UAA, UGA, UAG

Front 47

Once reached the stop codon, amino acids are added and the ribosome detaches from the peptide strand and mRNA –

Back 47

True

Front 48

It is branch of biology that deals with inheritance –

Back 48

genetics

Front 49

Who pioneered genetics –

Back 49

Gregor Mendel

Front 50

The passage of genetic information/hereditary traits to the next generation –

Back 50

inheritance

Front 51

It is the genetic makeup of an individual –

Back 51

genotype e.g. 46 chromosomes

Front 52

It is the physical or biochemical manifestation of the genotype –

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phenotype e.g. (green eyes, tall, short)

Front 53

The alternate form of a gene that codes for the same trait –

Back 53

allele

Front 54

It is the permanent inherited change in an allele that may result in a different phenotype for that gene –

Back 54

mutation

Front 55

It result from the combination of a dominant allele with another dominant allele (homozygous dominant – same trait) or with a recessive allele (heterozygous dominant – different trait) –

Back 55

dominant trait

Front 56

Results from the combination of two recessive alleles (homozygous recessive) –

Back 56

recessive trait

Front 57

Person who carrier a recessive allele but does not show signs of this allele –

Back 57

carrier e.g. don’t have a disease but can pass that possibility along

Front 58

It is frequently used to determine the phenotype of offspring and the odds that a genotype will occur –

Back 58

Punnett square

Front 59

It is used to figure out the genotype of a kid –

Back 59

punnet square

Front 60

Individual with two identical alleles of one gene on each chromosome –

Back 60

homozygous

Front 61

Individual with two different alleles of one gene on each chromosome –

Back 61

heterozygous

Front 62

-Autosomal recessive disorders:

Back 62

homozygous recessive

Front 63

Cystic Fibrosis - 1/20 Caucasians (carrier - heterozygous),

Back 63

1/2500 newborns -mutation in gene that encodes a chloride channel protein, chromosome #7

Front 64

Tay-Sachs disease - Jewish descent

Back 64

-lack of the enzyme hexosaminidase (HexA), chromosome #15

Front 65

Phenylketonuria - 1/5000 newborns

Back 65

-lack enzyme needed to process the amino acid, phenylalanine
-accumulation - neurological failure, mental retardation

Front 66

-Autosomal dominant disorders:

Back 66

homozygous or heterozygous dominant

Front 67

Neurofibromatosis - 1/3000 people, equally represented

Back 67

-café-au-lait spots on the skin, mostly mld symptoms
-severe symptoms - skeletal deformaties, large head, eye and ear tumors
-gene on chromosome 17, controls cell division

Front 68

Huntington disease - 1/20000 people

Back 68

-progressive degeneration of neurons
-gene on chromosome 4 - no known cure

Front 69

-Polygenic disorders:

Back 69

controlled by more than one allele e.g. cleft lip, clubfoot, hypertension, diabetes
-more than one allele can control normal traits e.g. skin color

Front 70

-Sex-linked disorders:

Back 70

contain alleles of genes also
-X-linked - contributed by mother e.g. color blindness, muscular dystrophy, hemophilia
-inheritance is determined using a pedigree chart

Front 71

-polyploidy =

Back 71

extra pair of chromosomes, -one gamete is diploid - non-disjunction , during meiosis I (homologous pairs fail to separate) or meiosis II (sister chromatids) -results in a triploid cell

Front 72

trisomy 21 = Down’s syndrome (1/770)
trisomy 13 = Patau’s syndrome (1/15000)
trisomy 18 = Edward’s syndrome (1/4000)
trisomy 22 = very rare
sickle cell anemia - chromosome #11
Amyotrophic lateral sclerosis - chromosome #21
Cystic fibrosis = chromosome #7
Tay-sachs disease - chromosome #15

Back 72

trisomy 21 = Down’s syndrome (1/770)
trisomy 13 = Patau’s syndrome (1/15000)
trisomy 18 = Edward’s syndrome (1/4000)
trisomy 22 = very rare
sickle cell anemia - chromosome #11
Amyotrophic lateral sclerosis - chromosome #21
Cystic fibrosis = chromosome #7
Tay-sachs disease - chromosome #15

Front 73

-aneuploidy = missing a chromosome pair, -

Back 73

occurs in sex chromosomes more, frequently