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[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
 
[object Object]
Effect Area Stained Stain Type Under UV light, distinct fluorescent banded pattern for each chromosome. Chromosome arms; mostly repetitive AT-rich DNA Quinacrine Q-banding Distinct banded pattern for each chromosome; same as Q-banding pattern except single additional band near centromere of chromosomes 1 and 16 Chromosome arms; mostly repetitive AT-rich DNA Giemsa G-banding Reverse banding pattern of that observed with Q- or G-banding Chromosome arms; mostly unique GC-rich DNA Variety of techniques R-banding Largest bands usually on chromosomes 1, 9, 16, and Y; chromosomes 7, 10, and 15 have medium-sized bands; size of C-bands highly variable from person to person Centromere region of each chromosome and distal portion of Y chromosome; highly repetitive, mostly AT-rich DNA Variety of techniques C-banding
Non-Banded  Karyotype
 
[object Object],[object Object],[object Object],[object Object],[object Object],© Biologyreference.com
 
[object Object],[object Object],[object Object]
 
7 18 Low/High  Resolutions  Karyotype
 
Normal Karyotype/ Ideogram
Q-Banding
C-Banding
R - Banding
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Advantages  and Disadvantages of conventional technique
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],© Biologyreference.com
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 
 
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
 
[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],A  B  C  D  E  F  G A  B  D  E  F  G C
[object Object],[object Object],[object Object]
[object Object],A  B  C  D  E  F  G A  B  C  D  E  F  G x A  B  C  D  E  F  F  G A  B  C  D  E  G Deletion Duplication
[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Prader-Willi Angelman
[object Object],A  B  C  D  E  F  G A  B  C  D  E  F  F G
 
[object Object],A  B  C  D  E  F  G  H  I  J  K A  B  C  H  G  F  E  D  I  J  K 180 O
[object Object],A B C D E F G
[object Object],A B C D E F G
 
 
[object Object],[object Object],[object Object],[object Object]
[object Object],F A B C D E L M N O P Q
A  B  C D  E  F O  N  M  L Q  P Remember:  There are still two normal    chromosomes in the cell!   = translocation heterozygote
Translocation
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
Reciprocal translocation between chr.  22 and  chr. 9 9  9   22  22
Reciprocal translocation between chr.  22 and  chr. 9 9  9   22  22  Chr. 9 segment  has an oncogene; when moved, it becomes active
[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object]
Roberstsonian translocations
[object Object],[object Object],14  21  14+21 Carrier;  phenotypically normal produces normal, carrier, and  Down syndrome children
synapsis Three possible disjunctions
 
X X
X X X X
© 2007 Paul Billiet  ODWS Images believed to be in the Public Domain 23  unpaired  chromosomes 23  unpaired  chromosomes 23  unpaired  chromosomes 23  unpaired  chromosomes Fertilisation Child Father 23  pairs  of chromosomes Sex cells Meiosis Mother 23 pairs of chromosomes 23 pairs of chromosomes
[object Object],[object Object],[object Object],[object Object],© 2007 Paul Billiet  ODWS
Y X X X Fertilisation Possible children Father Sex cells Meiosis Mother XX XY Chance of a girl 50%  Chance of a boy 50% © 2007 Paul Billiet  ODWS X Y X XX XY X XX XY
[object Object],[object Object],[object Object],[object Object],© 2007 Paul Billiet  ODWS
© 2007 Paul Billiet  ODWS HOMOGAMETIC SEX HETEROGAMETIC SEX SEX DETERMINATION Female  XX Male  XY Presence of Y-chromosome = maleness (mammals and fish) Presence of second X-chromosome = femaleness (Drosophila, the fruit fly) Male  ZZ Female  ZW Birds, amphibians, reptiles, butterflies, moths. Female  XX Male  Xo Grasshoppers
[object Object],[object Object],[object Object],© 2007 Paul Billiet  ODWS
Mouse Maize © A. Lane Rayburn Image believed to be in the Public Domain
© 2007 Paul Billiet  ODWS Organism Chromosome numbers Human 46 Chimpanzee 48 House Mouse 40 Maize 20
Image believed to be in the Public Domain

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Cytogenetics

  • 1.  
  • 2.
  • 3.
  • 4.
  • 5.  
  • 6.
  • 7. Effect Area Stained Stain Type Under UV light, distinct fluorescent banded pattern for each chromosome. Chromosome arms; mostly repetitive AT-rich DNA Quinacrine Q-banding Distinct banded pattern for each chromosome; same as Q-banding pattern except single additional band near centromere of chromosomes 1 and 16 Chromosome arms; mostly repetitive AT-rich DNA Giemsa G-banding Reverse banding pattern of that observed with Q- or G-banding Chromosome arms; mostly unique GC-rich DNA Variety of techniques R-banding Largest bands usually on chromosomes 1, 9, 16, and Y; chromosomes 7, 10, and 15 have medium-sized bands; size of C-bands highly variable from person to person Centromere region of each chromosome and distal portion of Y chromosome; highly repetitive, mostly AT-rich DNA Variety of techniques C-banding
  • 9.  
  • 10.
  • 11.  
  • 12.
  • 13.  
  • 14. 7 18 Low/High Resolutions Karyotype
  • 15.  
  • 20.
  • 21.
  • 22.
  • 23.
  • 24.  
  • 25.  
  • 26.
  • 27.
  • 28.
  • 29.  
  • 30.
  • 31.
  • 32.
  • 33.
  • 34.
  • 35.
  • 36.
  • 37.
  • 38.
  • 39.
  • 40.
  • 41.
  • 42.
  • 43.
  • 44.
  • 45.
  • 46.
  • 47.  
  • 48.
  • 49.
  • 50.
  • 51.  
  • 52.  
  • 53.
  • 54.
  • 55. A B C D E F O N M L Q P Remember: There are still two normal chromosomes in the cell! = translocation heterozygote
  • 57.
  • 58.
  • 59.
  • 60. Reciprocal translocation between chr. 22 and chr. 9 9 9 22 22
  • 61. Reciprocal translocation between chr. 22 and chr. 9 9 9 22 22 Chr. 9 segment has an oncogene; when moved, it becomes active
  • 62.
  • 63.
  • 65.
  • 66. synapsis Three possible disjunctions
  • 67.  
  • 68. X X
  • 69. X X X X
  • 70. © 2007 Paul Billiet ODWS Images believed to be in the Public Domain 23 unpaired chromosomes 23 unpaired chromosomes 23 unpaired chromosomes 23 unpaired chromosomes Fertilisation Child Father 23 pairs of chromosomes Sex cells Meiosis Mother 23 pairs of chromosomes 23 pairs of chromosomes
  • 71.
  • 72. Y X X X Fertilisation Possible children Father Sex cells Meiosis Mother XX XY Chance of a girl 50% Chance of a boy 50% © 2007 Paul Billiet ODWS X Y X XX XY X XX XY
  • 73.
  • 74. © 2007 Paul Billiet ODWS HOMOGAMETIC SEX HETEROGAMETIC SEX SEX DETERMINATION Female XX Male XY Presence of Y-chromosome = maleness (mammals and fish) Presence of second X-chromosome = femaleness (Drosophila, the fruit fly) Male ZZ Female ZW Birds, amphibians, reptiles, butterflies, moths. Female XX Male Xo Grasshoppers
  • 75.
  • 76. Mouse Maize © A. Lane Rayburn Image believed to be in the Public Domain
  • 77. © 2007 Paul Billiet ODWS Organism Chromosome numbers Human 46 Chimpanzee 48 House Mouse 40 Maize 20
  • 78. Image believed to be in the Public Domain