Chapters 12,13,14

70 cards

midterm 2


 
  
Created Oct 31, 2009
by
emma.feldman

 

 
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1
polygenic diseases
 
ex: heart disease & cancer; based on many genes working in concert with a given set of...
2
x-linked disorders
 
the genes that cause them lie on the x-chromosome; claim more male victims than femaleex: hemophilia,...
3
recessive disorder
 
a genetic disorder that will not exist in the presence of a functional allele
4
autosomal recessive disorder
 
a recessive dysfunction related to an autosome  (chromosomes other than X & Y)ex:...
5
carrier
 
a person who does not suffer from a recessive genetic debilitation, but who carries an allele...
6
dominant disorders
 
genetic conditions in which a single faulty allele can cause damage, even when a second, functional...
7
autosomal dominant disorder
 
dominant genetic disorder caused by a faulty allele that lies on an autosomal chromosomeex:...
8
Pedigree
 
a familial history intended to track genetic conditions; can be used to ascertain whether a...
9
polyploidy
 
a condition in which one or more entire sets of chromosomes has been added to the genome of...
10
aneuploidy
 
a condition in which an organism has either more or fewer chromosomes than normally exist in...
11
nondisjunction
 
a failure of homologous chromosomes or sister chromatids to separate during meiosis; when it...
12
Down syndrome
 
the most well-known outcome of aneuploidy in humans; caused by the gain of an additional chromosome...
13
Turner syndrome
 
produces people who phenotypically female, but who have only one X chromosome and 45 chromosomes;...
14
Klinefelter syndrome
 
XXY men, phenotypically male in most respects, tend to have a number of feminine features:...
15
It is also possible for aneuploidy to occur in mitosis
 
as one cell divides, a given chromatid can fail to migrate to its proper "pole" and 1 resulting...
16
deletion
 
occurs when a chromosome fragment breaks off & then does not rejoin any chromosomeex: cri-du-chat...
17
PGD (preimplantation genetic diagnosis)
 
can be used by couples who have no known genetic risk factors but are having a hard time conceiving...
18
amniocentesis
 
genetic screening that can provide information about conditions; cells are obtained from an...
19
inversion
 
when a chromosome fragment rejoins the chromosome it came from, with its orientation "flipped"...
20
translocation
 
a chromosomal abnormality that occurs when two chromosomes that are not homologous exchange...
21
adding a gene to a chromosome can "free up" an existing gene, such that it can be altered through...
 
.
22
Thomas Hunt Morgan of Columbia
 
linked a particular trait to a particular chromosome, and found that genes on the same chromosome...
23
molecular biology
 
the investigation of life at the level of its individual molecules
24
James Watson & Francis Crick
 
presented the structure of DNA in 1953
25
X-ray diffraction
 
a purified form of a molecule is bombarded with X rays, the way the rays scatter on impact...
26
DNA structure
 
1. phosphate group2. deoxyribose (sugar)3. 4 possible DNA bases: adenine, guanine, thymine,...
27
nucleotide
 
the linkage of a phosphate group, a deoxyribose molecule, & one of the four bases; the...
28
A always pairs with _G always pairs with _
 
TC
29
any two bases that can pair together across the helix are said to be ___________
 
complementary
30
each single strand of DNA serves as a ________ for the synthesis of a new single strand
 
template
31
because new nucleotides can be added to only one end of a DNA strand, the nucleotides are added...
 
different
32
helicases
 
enzymes that unind the double helix, separating its two strands to make the bases on them available...
33
DNA polymerases
 
move along each strand of the double helix, joining together nucleotides as they are added,...
34
mutation
 
a permanent alteration of a DNA base sequence
35
point mutation
 
a permanent mistake; a mutation of a single base pair in the genome; a slight change in the...
36
somatic cells
 
cells that do not become eggs or sperm; most mutations come about in these cells
37
germ-line cells
 
cells that become egg or sperm
38
germ-line cell mutations
 
heritable, can be passed on from one generation to the next
39
mutagens
 
substances that can mutate DNAex: cigarette smoke, UV light
40
UV light
 
a form of radiation that can link adjacent T's together in a single strand of DNA; sometimes...
41
senescence
 
when a cell recognizes that damage cannot be repaired and stops dividing
42
apoptosis
 
cell suicide
43
it is the order of _____ _____ that determines which protein is synthesized
 
amino acids
44
ribosome
 
an organelle, located in the cell's cytoplasm, that is the site of protein synthesis; mRNA...
45
transcription
 
the process by which the genetic information encoded in DNA is copied onto messenger RNA; a...
46
translation
 
the process by which information encoded in messenger RNA is used to assemble a protein at...
47
RNA
 
structurally very similar to DNA; usually single-stranded; uses adenine, guanine, cytosine,...
48
RNA polymerase
 
enzyme that unwinds the DNA sequence and then strings together the chain of RNA nucleotides...
49
messenger RNA
 
a type of RNA that encodes and carries to ribosomes information for the synthesis of proteins
50
how many DNA basis does it take to code for an amino acid?
 
3
51
codon
 
an mRNA triplet that codes for a single amino acid or a start or stop command in the translation...
52
genetic code
 
the inventory of linkages between nucleotide triplets and the amino acids they code for
53
transfer RNA
 
a form of RNA that, in protein synthesis, binds with amino acids, transfers them to ribosomes,...
54
anticodon
 
the end of the transfer RNA molecule that can bind with a particular codon on the mRNA transcript
55
ribosomal RNA
 
a type of ribosomal RNA that, along with proteins, forms ribosomes
56
the mRNA codon ___ is the usual "start" codon for a polypeptide chain
 
AUG
57
termination codons
 
3 separate codons that don't code for any amino acid but act as stop signals for polypeptide...
58
the genetic code is redundant
 
almost all the amino acids are coded for by more than one mRNA codon
59
with only a few exceptions, the genetic code is universal in all living things
 
evidence that all life on Earth is derived from a single ancestor
60
"junk DNA" 
 
DNA that came mostly from outside our genome (from invading viruses) and has never had any...
61
promoter sequence
 
the site on a segment of DNA to which RNA polymerase attaches prior to beginning transcription
62
enhancer proteins
 
does not code for anything; serves as a binding site for proteins that help get RNA polymerase...
63
introns
 
sequences that are cut out in editing out noncoding sequences; "intervening" sequences; account...
64
exons
 
sequences that are retained in editing out noncoding sequences; most are "expressed" as proteins
65
alternative splicing
 
another form of genetic regulation; a process in which a single primary transcript can be edited...
66
when some classes of introns insert themselves into genomes such as ours, a mutation can occur...
 
enabled organisms such as ourselves to produce more proteins and hence to become more complex;...
67
not all RNA codes for proteins
 
transcription an also produce noncoding RNA segments that are regulatory
68
micro-RNAs
 
only about 22 bases long; reduce production of specific proteins, most commonly by interfering...
69
there is ______ relationship between the number of genes an organism has and the complexity...
 
little
70
complexity is necessary because it enables life
 
.


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