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Cytogenetics = The study of chromosome number, structure, function, and behavior in relation to gene inheritance, organization and expression Chromosome Chromo = colored in response to dye Some = body Chromosome of Eukaryotes have been the traditional subject for cytogenetic analysis because they are large enough to be examined with light microscope
Chromosome Number
Chromosome number in selected organisms
Cytogenetic methods to detect chromosomal abnormalities underlying human birth defects usually involve analysis of mitotic chromosomes
Chromosome Shape
As chromosomes condense and become visible during cell division, certain structural features can be recognized Centromere
A region of a chromosome to which microtubule fibers attach during cell division The location of a centromere gives a chromosome its characteristic shape
Centromere Location
Metacentric
A chromosome that has a centrally placed centromere
Submetacentric
A chromosome whose centromere is placed closer to one end than the other
Acrocentric
A chromosome whose centromere is placed very close to, but not at, one end
Human Chromosomes
Replicated chromosomes at metaphase consist of sister chromatids joined by a single centromere
Chromosome
Sister Chromatids
Metaphase Chromosomes
Chromosomes are identified by size, centromere location, banding pattern
Metacentric
Submetacentric
Acrocentric
17
21
Types of Chromosomes
Sex chromosomes
In humans, the X and Y chromosomes that are involved in sex determination. These have different sizes and shapes
Autosomes
Chromosomes other than the sex chromosomes In humans, chromosomes 1 to 22 are autosomes
A Human Karyotype
Centrifuge to concentrate cells. Add low-salt solution to eliminate red blood cells and swell lymphocytes. Drop cells onto microscope slide. Examine with microscope. Digitized chromosome images processed to make karyotype.
Chromosome banding and other techniques can identify small changes in chromosomal structure
Banding technique G-banding Treat metaphase spreads with trypsin, an enzyme that digests part of chromosomal protein. Stain with Giemsa stain. Observe banding pattern with light microscope.
Banding technique
Appearance of chromosomes
Q-banding Treat metaphase spreads with the chemical quinacrine mustard. Observe uorescent banding pattern with a special ultraviolet light microscope.
Bright uorescent bands upon exposure to ultraviolet light; same as darkly stained G bands.
Banding technique
Appearance of chromosomes
R-banding Heat metaphase spreads at high temperatures to achieve partial denaturation of DNA. Stain with Giemsa stain. Observe with light microscope.
Darkly stained R bands correspond to light bands in G-banded chromosomes. Pattern is the reverse of Gbanding.
Banding technique C-banding Chemically treat metaphase spreads to extract DNA from the arms but not the centromeric regions of chromosomes. Stain with Giemsa stain and observe with light microscope.
Appearance of chromosomes
Darkly stained C band centromeric region of the chromosome corresponds to region of constitutive heterochromatin.
Chromosome Painting
New techniques using fluorescent dyes generate unique patterns for each chromosome
Amniocentesis
A method of sampling the fluid surrounding the developing fetus by inserting a hollow needle and withdrawing suspended fetal cells and fluid
Used in diagnosing fetal genetic and developmental disorders Usually performed in the sixteenth week of pregnancy
Amniocentesis
Removal of about 20 ml of amniotic uid containing suspended cells that were sloughed off from the fetus
A few biochemical analyses with some of the amniotic fluid Quick determination of fetal sex and analysis of purified DNA
Centrifugation
Biochemical analysis for the presence of alleles that cause many different metabolic disorders Karyotype analysis (a)
Bladder
Catheter
Rectum
(a)
Aneuploidy
A chromosomal number that is not an exact multiple of the haploid number
Tetraploidy
A chromosomal number that is four times the haploid number, having four copies of all autosomes and four sex chromosomes
A Triploid Karyotype
Keep In Mind
Polyploidy results when there are more than two complete sets of chromosomes
Trisomy
A condition in which one chromosome is present in three copies, and all others are diploid; one more than the diploid number (2n + 1)
Causes of Aneuploidy
Nondisjunction
The failure of homologous chromosomes to separate properly during meiosis
Nondisjunction
Extra chromosome (n + 1)
Extra chromosome (n + 1)
Missing chromosome (n 1)
Normal division
Missing chromosome (n 1)
Normal (n)
7.5
5
Percentage of trisomies
3 2
2 3 4 5 6
7 8
9 10 11 12 13 14 15 16 17 18 19 20 21 22
Chromosome number
High risk of leukemia & Alzheimers disease Few reach the age of 50
ANIMATION: Nondisjunction
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18 16 14
Trisomy 21/1,000 births
35
Percentage of clinically recognized pregnancies
10
15 16 18 20 22 24 26 28 30 32 34 36 38 40
42
(b)
Maternal age
Maternal selection
Embryo-uterine interactions that normally abort abnormal embryos become less effective Age of the mother is the best known risk factor for trisomy
Fig 6.20
Fig 6.22
Deletions
Deletions involve loss of chromosomal material Deletions of chromosomal segments are associated with several genetic disorders
Cri du chat syndrome Prader-Willi syndrome
Translocations
Robertsonian Translocation
ANIMATION: Inversion
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ANIMATION: Translocation
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ANIMATION: Duplication
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Fragile sites
Appear as gaps or breaks in chromosome-specific locations
Fragile Sites
Appear as gaps or breaks in chromosomes One fragile site on the X chromosome is associated with a common form of mental retardation in males know as Fragile X Syndrome
FRAX B
FRAX C
The fragile sites on the human X chromosome. Sites B, C, and D are common sites and are found on almost all copies of the X chromosome. A, E, and F are rare sites; expression of A is associated with fragile-X syndrome.
FRAX A FRAX E