8 Chromosome Disorder
-
Upload
ghalan -
Category
Technology
-
view
5.615 -
download
0
Transcript of 8 Chromosome Disorder
![Page 1: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/1.jpg)
Chromosome disorders
Weiying Jiang Department of Medical Genetics
P33
![Page 2: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/2.jpg)
![Page 3: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/3.jpg)
Human chromosome
![Page 4: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/4.jpg)
What is chromosome?
Chromosomes are complex structures located in the cell nucleus, they are composed of DNA, histone and non-histone proteins, RNA , and polysaccharides. They are basically the "packages" that contain the DNA.
![Page 5: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/5.jpg)
![Page 6: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/6.jpg)
A group——1 ~ 3
B group——4 ~ 5
C group——6 ~ 12 +X
D group——13 ~ 15
E group——16 ~ 18
F group——19 ~ 20
G group——21 ~ 22 +Y
Classification
![Page 7: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/7.jpg)
Metacentric(Chromosome 1)
Submetacentric(Chromosome 9)
Acrocentric(Chromosome 14)
![Page 8: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/8.jpg)
Methods of chromosome analysis
Karyotype analysis
![Page 9: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/9.jpg)
Methods of chromosome analysis
Karyotype analysis
(G banding )
![Page 10: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/10.jpg)
Methods of chromosome analysis
Fluoresent in-situ hybridization (FISH)Utilizing fluorescently labeled DNA probes to detect or confirm gene or chromosome abnormalities that are generally beyond the resolution of routine Cytogenetics
![Page 11: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/11.jpg)
Metaphase FISH
![Page 12: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/12.jpg)
Interphase FISH
FISH can be used in interphase cells to determine the chromosome number of one or more chromosomes as well as to detect some specific chromosome rearrangements that are characteristic for certain cancers. The primary advantage of interphase FISH is that it can be performed very rapidly if necessary, usually within 24 hours, because cell growth is not required.
![Page 13: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/13.jpg)
![Page 14: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/14.jpg)
Comparative Genomic Hybridization
( CGH)ATCGGATCATGCGTA
TAGCCTAGTACGCAT
![Page 15: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/15.jpg)
![Page 16: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/16.jpg)
![Page 17: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/17.jpg)
Disadvantages:
Resolution
Technical difficulties
10 mega-bases for losses
2 mega-bases for gains
Providing the start point for position cloning, but the precise localization
![Page 18: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/18.jpg)
Array CGH
![Page 19: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/19.jpg)
![Page 20: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/20.jpg)
![Page 21: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/21.jpg)
Advantages:
Resolution
30,000 overlapping mapped
clones (one clone per mega-base)
Oligonucleotide array includes up 500,000 probes
![Page 22: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/22.jpg)
Chromosome abnormality
Numerical abnormality
Structural abnormality
Aneuploidy
Polyploidy
translocation
deletion
insertion
inversion
rings
isochromosome
![Page 23: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/23.jpg)
Numerical abnormality
46 chromosomes
23 chromosomes = one set of chromosomes
![Page 24: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/24.jpg)
Diploidy
![Page 25: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/25.jpg)
Aneuploidy:
One or a few
chromosomes ,except 23 ones ,
above or below the normal
chromosome number. For
example, three number 21
chromosomes or trisomy 21.
![Page 26: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/26.jpg)
The common aneuploidy:
Patau syndrome: (trisomy 13)
Edwards syndrome: (trisomy 18)
Down’s syndrome: (trisomy 21)
![Page 27: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/27.jpg)
The common aneuploidy:
Turner’s syndrome:
(45, X)
![Page 28: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/28.jpg)
XX
X X
l l l l
Normal
![Page 29: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/29.jpg)
Non-disjunction
In meiosis
![Page 30: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/30.jpg)
Mosaicism
Non-disjunction
During Mitosis
![Page 31: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/31.jpg)
Polyploidy
More than two sets of chromosomes per nucleus.
23 chromosomes = one set of chromosomes
69,XXY 92,XXXY
![Page 32: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/32.jpg)
Diandry Digyny
![Page 33: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/33.jpg)
Structure of chromosome abnormality
![Page 34: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/34.jpg)
46,XY,t(5;8)(q31.1;p23).
![Page 35: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/35.jpg)
A
CB
D
Synapsis
![Page 36: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/36.jpg)
![Page 37: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/37.jpg)
Robertsonian Translocation
![Page 38: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/38.jpg)
![Page 39: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/39.jpg)
46,XX,del(16)(q13q22
![Page 40: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/40.jpg)
46,XY,inv(10)(q11.23q26.3).
Inversion
![Page 41: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/41.jpg)
A
CB
D
Synapsis
![Page 42: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/42.jpg)
Pericentric inversion
Paracentric inversion
1
2
34
1
42
31
2
43
![Page 43: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/43.jpg)
46,XY,+13,dic(13;14)(p11.2;p11.2).
![Page 44: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/44.jpg)
Ring chromosome
![Page 45: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/45.jpg)
Chromosome abnormality
Numerical abnormality
Structural abnormality
Aneuploidy
Polyploidy
translocation
deletion
insertion
inversion
rings
isochromosome
![Page 46: 8 Chromosome Disorder](https://reader035.fdocuments.us/reader035/viewer/2022062312/5560e233d8b42a3d768b4aff/html5/thumbnails/46.jpg)