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Chapter 8 Genetic Variation Flashcards

1
Q

Genetic Variation

A

genetic differences among SAME or DIFFERENT species

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2
Q

Allele Variation

A

difference in species genes

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3
Q

Chromosome Identified 3 ways:

A

Location of Centromere
Size
Banding Pattern

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4
Q

Metacentic

A

Centromere located in center of chromosome

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5
Q

Submetacentric

A

Centromere slightly off center

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6
Q

acrocentric

A

Centromere way off center

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7
Q

Telocentric

A

Centromere at one end (so short arm does not exist)

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8
Q

Short arm represented by letter?

A

P

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9
Q

Long arm represented by letter?

A

Q

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10
Q

In a Karyotype chromosomes are organized based on what?

A
  • numbered according to size
  • short arm on top
  • largest have smallest number
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11
Q

Deletion

A

change in total number of chromosomes resulting from a deletion a segment of genetic material (also referred to as deficiency)

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12
Q

Duplication

A

Change in total number of chromosomes resulting from section of chromosome being repeated

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13
Q

Inversion

A

chromosomal rearrangements- changes direction of genetic material

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14
Q

Translocation

A

chromosomal rearrangement-one segment of chromosome becomes attached to another chromosome OR another part of same chromosome

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15
Q

Simple Translocation

A

One segment of a chromosome moves to another segment

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16
Q

Reciprocal Translocation

A

Two chromosomes EXCHANGE pieces

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17
Q

Terminal Deletion

A

A chromosome breaks in two pieces and the end of a chromosome is lost

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18
Q

Interstitial Deletion

A

A chromosome breaks in to three pieces and the center piece is lost

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19
Q

Cri-Du Chat Syndrome

A

Deletion in short arm of chromosome 5 resulting in mental deficiency, facial abnormality, and catlike cry at birth

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20
Q

Prader Willi Syndrome and Angelman Syndrome

A

Deletion in chromosome 15

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21
Q

Repetitive Sequence

A

homologous chromosome carrying identical or similar fragments of genetic material

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22
Q

Nonallelic homologous recombination

A

two repetitive sequences align causing a duplication in one chromosome and a deletion in the other due to the misalignment

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23
Q

Gene Duplication

A

number of genes at specific location duplicates

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24
Q

Charchat Marie-Tooth

A

Small duplication in chromosome 15 causing abnormality in development of hands and feet

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25
Gene Family
Two or more genes similar to each other that were created from the same ancestral gene
26
Paralogs
Homologous genes from SAME species
27
Orthologs
Homologous genes from DIFFERENT species
28
Pericentric inversion
Inversion occurs within region of centromere
29
Paracentric Inversion
Inversion occurs outside region of the centromere
30
Position Effect
location a gene changes (due to translocation or inversion) sometimes causing abnormal phenotypic expression Ex: Hemophilia Type A
31
Inversion Heterozygote
One chromosome has inverted fragment and one is normal (will possibly produce abnormal zygote)
32
Inversion Loop
Loop created during meiosis I so that the inverted region of the chromosome does not separate incorrectly causing abnormalities. Larger inversion region=larger potential for abnormality
33
Pericentric Crossing Over
Results in two abnormal chromosomes | 1 with deletion 1 with duplication
34
Paracentric Crossing Over
One dicentric chromosome and one acentric fragment
35
Dicentric Chromosome
Chromosome with two centromere--created from paracentric crossing over
36
Acentric Fragment
Fragment with no centromere--created from paracentric crossing over (usually degrades and is lost)
37
Telomere
Region at end of linear chromosome that keeps chromosomes from unnecessarily attaching to each other
38
Mechanisms that cause translocation
1) Chromosomal breakage (multiple chromosomes break and then reattach to each other in mismatched forms) 2) Abnormal Crossing Over (results in rearrangement of genetic material)
39
Unbalanced Translocation
Different amount of chromosomes duplicate/delete (usually occurs in offsprings of carriers with reciprocal translocation)
40
Robertsonian Translocation
fusion of two chromosomes (sometimes causing down syndrome)
41
Down Syndrome
can be a result of unbalanced translocation creating three fragments of chromosome 21
42
Translocation Cross | Two Possible Methods:
abnormal pairing of homologous chromosomes 1) Diagonal Cross: results in two normal and two reciprocal translocation chromosomes 2) Adjacent 1 Segregation: results in 4 haploid abnormal cells (half deleted/half duplicated chromosomes)
43
Semi Sterility
not all gametes viable sometimes in reciprocal transolcation women because half of gametes will not be viable)
44
Why is aneuploidy detremental to phenotype?
Being trisomic or monosomic is bad because genes are over or under expressed
45
Trisomy 21
Causes down syndrome. Has an extra chromosome 21 | *chromosomes do not seperate correctly during anaphase
46
XXY
Klinefelter
47
XYY
Jacobs Syndrome
48
Trisomy X
Females with an extra X chromosome
49
XO
Turner Syndrome
50
Haplodiploidy
One gender is haploid and one is diploid like in insects
51
What is polyploid and what are some expamples?
Polyploid is three or more sets of chromosomes. Examples are some amphibians and reptiles
52
When is variation in euploidy common?
In plants
53
What is chromosome nondisjunction and what is result?
instances in which chromosomes do not segregate properly
54
What is meitoic Nondisjunction and what does it produce?
produces haploid cells with too many or too few chromosome.
55
What is mitotic nondisjunction?
Leads to patch of tissue in organisms with altered chromosome number
56
What does nondisjunction during meiosis 1 lead to?
2 monosomic and 2 trisomic cells
57
What does nondisjuction during meiosis 2 lead to?
1 mono 1 trisomic, and 2 normal cells
58
What does complete nondisjunction lead to?
diploid cells or cells without any chromosomes
59
What is mosaicism
Genetic abnormality that occurs after fertilization resulting in a small patch of cells with a different chromsome number .
60
What is bilateral gynadromorphy?
An insect that is half male and half female as a result of mitotic nondisjunction. Produces and XX and an XO individual
61
What is autopolyploidy?
increase in number of chromosome sets in an individual species as a result of complete nondisjunction
62
What is alloploidy?
An organism with one set of chromosomes from two DIFFERENT SPECIES. results from interspecies cross
63
What is allopolyploid?
Contains two sets of chomosomes from two or more species
64
What is allodiploid?
An alloploid that has one set of chromosomes from two different species. Usually sterile

Genetics (11 decks)

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