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Genetics > Chapter 8 Genetic Variation > Flashcards

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
Q

Gene Family

A

Two or more genes similar to each other that were created from the same ancestral gene

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26
Q

Paralogs

A

Homologous genes from SAME species

27
Q

Orthologs

A

Homologous genes from DIFFERENT species

28
Q

Pericentric inversion

A

Inversion occurs within region of centromere

29
Q

Paracentric Inversion

A

Inversion occurs outside region of the centromere

30
Q

Position Effect

A

location a gene changes (due to translocation or inversion) sometimes causing abnormal phenotypic expression Ex: Hemophilia Type A

31
Q

Inversion Heterozygote

A

One chromosome has inverted fragment and one is normal (will possibly produce abnormal zygote)

32
Q

Inversion Loop

A

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
Q

Pericentric Crossing Over

A

Results in two abnormal chromosomes

1 with deletion 1 with duplication

34
Q

Paracentric Crossing Over

A

One dicentric chromosome and one acentric fragment

35
Q

Dicentric Chromosome

A

Chromosome with two centromere–created from paracentric crossing over

36
Q

Acentric Fragment

A

Fragment with no centromere–created from paracentric crossing over (usually degrades and is lost)

37
Q

Telomere

A

Region at end of linear chromosome that keeps chromosomes from unnecessarily attaching to each other

38
Q

Mechanisms that cause translocation

A

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
Q

Unbalanced Translocation

A

Different amount of chromosomes duplicate/delete (usually occurs in offsprings of carriers with reciprocal translocation)

40
Q

Robertsonian Translocation

A

fusion of two chromosomes (sometimes causing down syndrome)

41
Q

Down Syndrome

A

can be a result of unbalanced translocation creating three fragments of chromosome 21

42
Q

Translocation Cross

Two Possible Methods:

A

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
Q

Semi Sterility

A

not all gametes viable sometimes in reciprocal transolcation women because half of gametes will not be viable)

44
Q

Why is aneuploidy detremental to phenotype?

A

Being trisomic or monosomic is bad because genes are over or under expressed

45
Q

Trisomy 21

A

Causes down syndrome. Has an extra chromosome 21

*chromosomes do not seperate correctly during anaphase

46
Q

XXY

A

Klinefelter

47
Q

XYY

A

Jacobs Syndrome

48
Q

Trisomy X

A

Females with an extra X chromosome

49
Q

XO

A

Turner Syndrome

50
Q

Haplodiploidy

A

One gender is haploid and one is diploid like in insects

51
Q

What is polyploid and what are some expamples?

A

Polyploid is three or more sets of chromosomes. Examples are some amphibians and reptiles

52
Q

When is variation in euploidy common?

A

In plants

53
Q

What is chromosome nondisjunction and what is result?

A

instances in which chromosomes do not segregate properly

54
Q

What is meitoic Nondisjunction and what does it produce?

A

produces haploid cells with too many or too few chromosome.

55
Q

What is mitotic nondisjunction?

A

Leads to patch of tissue in organisms with altered chromosome number

56
Q

What does nondisjunction during meiosis 1 lead to?

A

2 monosomic and 2 trisomic cells

57
Q

What does nondisjuction during meiosis 2 lead to?

A

1 mono 1 trisomic, and 2 normal cells

58
Q

What does complete nondisjunction lead to?

A

diploid cells or cells without any chromosomes

59
Q

What is mosaicism

A

Genetic abnormality that occurs after fertilization resulting in a small patch of cells with a different chromsome number .

60
Q

What is bilateral gynadromorphy?

A

An insect that is half male and half female as a result of mitotic nondisjunction. Produces and XX and an XO individual

61
Q

What is autopolyploidy?

A

increase in number of chromosome sets in an individual species as a result of complete nondisjunction

62
Q

What is alloploidy?

A

An organism with one set of chromosomes from two DIFFERENT SPECIES. results from interspecies cross

63
Q

What is allopolyploid?

A

Contains two sets of chomosomes from two or more species

64
Q

What is allodiploid?

A

An alloploid that has one set of chromosomes from two different species. Usually sterile

Genetics (11 decks)

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