Download - Chromosmal aberrations
![Page 1: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/1.jpg)
Chromosomal Aberrations
AGB 121
Dept. of AGB
Veterinary College, Hebbal, Bangalore
![Page 2: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/2.jpg)
Normal Structure of chromosome
2Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 3: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/3.jpg)
Normal Karyotype of domestic animals
Catt le chromosomes, 2n=60, XY. S ta in metho d B rdU inco rporat ion - Acr id ineOrange
3Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 4: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/4.jpg)
Karyotype of Goat
4Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 5: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/5.jpg)
Karyotype of Sheep 54 XY & 54 XX
Ram
Ewe
5Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 6: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/6.jpg)
Karyotype of Buffalo 50 XX and 50XY
6Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 7: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/7.jpg)
Swine chromosomes, 2n=38,XX
7Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 8: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/8.jpg)
Karyotype of Dog
8Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 9: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/9.jpg)
Cat chromosomes, 2n=38,XX.
9Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 10: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/10.jpg)
Karyotype of Horse 64 XY
10Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 11: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/11.jpg)
Autosomal pair Sex chromosome
Diploid No. of No. of X Y
(2n) metacentrics acrocentric or telocentric
Cat 38 16 2 M M
Dog 78 0 38 M A
Pig 38 12 6 M M
Goat 60 0 29 A M
Sheep 54 3 23 A M
Cow 60 0 29 M M
Horse 64 13 18 M A
M – Metacentric; A – Acrocentric
11Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 12: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/12.jpg)
Chromosomal aberrations
Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
12
Structural Numerical
Euploidy Aneuploidy
1. Translocation
2. Inversions
3.Duplication/
Additions
4. Deletions
1. Monoploidy
2. Triploid
3. Tetraploid
i. Autotetraploid
ii. Allotetraploid
4. Polyploid
1. Monosomic
2. Trisomic
3. Tetrasomic
4. Double trisomic
5. Nullosomic
![Page 13: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/13.jpg)
13Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
Structural aberrations
![Page 14: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/14.jpg)
Structural Aberrations
• Translocation: Broken ends of two chromosomes rejoin into non-homologous portions of chromosomes.
1. Simple translocation: A piece of one chromosome goes and attaches to another chromosome.
2. Reciprocal Translocation: Involves the exchange of segments between two non-homologous chromosomes.
Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
14
![Page 15: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/15.jpg)
Reciprocal Translocation
Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
15
Homozygous reciprocal translocation
A B C D E F C D
A B C D E F C D
E F G H A B G H
E F G H A B G H
Both the homologous chromosome exchange parts with two
homologous chromosome of another pair.
![Page 16: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/16.jpg)
Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
16
•Heterozygous reciprocal translocation
If only one member of each of the two homologous pair
exchange the parts.
A B C D E F C D
A B C D A B C D
E F G H A B G H
E F G H E F G H
![Page 17: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/17.jpg)
DuplicationThe presence of an additional chromosome
segment, as compared to that normally present in a nucleus is known as Duplication.
• Four types of duplication:
1. Tandem duplication
2. Reverse tandem duplication
3. Displaced duplication
4. Translocation duplication
17Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 18: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/18.jpg)
Chromosomal AberrationsStructural abnormalities
18Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 19: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/19.jpg)
Induced by Radiation
19Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 20: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/20.jpg)
Chromosome conservation
Studies based on :
1. Constant autosomal arm number (NAA) ranging from 30-60.
2. Chromosomal mutation- Centric fusion.
3. Similarity in the chromosome arms noticed based on various banding techniques.
![Page 21: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/21.jpg)
Comparison of Chromosomes of Livestock
• Cattle & Goat have 60 pairs and Sheep has 54 pairs. • All autosomes are acrocentric in Cattle and Goats.
The X-chromosome Goat - acrocentric Cattle's -X sub-metacentric)
Y ChromosomeSmallerLarger
In sheep the same differences in the sex-chromosomes are found, but in addition there are three centromere fusions of autosomes.
The chromosomes, 1/3, 2/8 and 5/11, are fused in comparison with those in cattle and goat. Therefore, the sheep has only 54 chromosomes.
![Page 22: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/22.jpg)
Chromosomes of Buffaloes50,XX or 50XY
Based on banding the chromosome 1 to 5 in buffaloes has been formed by centric fusion of ten acrocentric autosomes of cattle:
1 and 27, 2 and 23, 8 and 19, 5 and 28 and 16 and 29, respectively.
![Page 23: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/23.jpg)
Comparison of River and Swamp Buffalo
• Riverine Buffalo-2n=50 Chromosome 4 &9 are separate.
• Swamp Buffalo-2n=48 Chromosome 4 & 9 appear as enlarged pair due to chromosome translocation.
• Crossbreds -2n=49 due to the 4/9 tandem fusion
• F2’s may have 2n as 48,49 and 50.
• Beyond 75% inheritance 2n=50
![Page 24: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/24.jpg)
X chromosome homology
Cattle- Submetacentric
River Buffalo -Acrocentric
Sheep-Acrocentric with small visible ‘p’ armBands are conserved except that in Buffaloes the centromere is repositioned with loss of constitutive heterochromatin.Comparison of Bovine with Caprine -four chromosome transposition including centromere repositioning
![Page 25: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/25.jpg)
Y chromosome homology
Bos taurus -Submetacentric
Bos indicus -Acrocentric with small visible pericentric inversion
Buffaloes-It larger than Bos taurus of because of addition of heterochromatic region
![Page 26: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/26.jpg)
Robertsonian Translocation
Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
26
![Page 27: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/27.jpg)
27Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
Translocation
![Page 28: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/28.jpg)
Ring chromosome
Dr R Jayashree, Asst. Prof(AGB) Veterinary College, Bangalore
![Page 29: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/29.jpg)
29Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 30: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/30.jpg)
Numerical Aberration
30Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 31: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/31.jpg)
31Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
Polyploidy -Numerical abnormality
![Page 32: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/32.jpg)
32Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
Triploidy
![Page 33: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/33.jpg)
33Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
Monosomic
![Page 34: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/34.jpg)
34Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
Klinefelter syndrome
![Page 35: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/35.jpg)
Freemartin• Infertile female when born as a co-twin to a
male calf
• The calf will have masculanized behaviour and non functioning ovaries
35Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 36: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/36.jpg)
Karyotype of freemartin
It is Chimeric with the sample of cells showing XX/XY chromosomes. and pigs
Externally, the animal appears female, but various aspects of female reproductive development are altered due to acquisition of anti-Müllerianhormone from the male twin.
It also occurs occasionally in other mammals including sheep, goats and pigs
36Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 37: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/37.jpg)
Freemartinism
The animal originates as a female (XX), but acquires the male (XY) component in utero by exchange of some cellular material from a male twin, via vascular connections between placentas
37Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore
![Page 38: Chromosmal aberrations](https://reader031.vdocuments.us/reader031/viewer/2022020118/568c50811a28ab4916aec966/html5/thumbnails/38.jpg)
Cri-du-chat (Cat cry syndrome):
The name of the syndrome came from a cat like mewing cry from small weak infants with the disorder.
Other characteristics are microcephaly (small head), broad face and saddle nose, physical and mental retardation.
Cri-du-chat patients die in infancy or early childhood.
The chromosome deficiency is in the short arm of chromosome 5 .
Myelocytic leukemia
A deletion of chromosome 22 was described by P.C.Nowelland Hungerford and was called “Philadelphia” (Ph’)chromosome after the city in which the discovery was made.
38Dr R Jayashree, Asst. Prof(AGB), Veterinary College, Bangalore