Karyotypes and mutations
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Karyotypes and Mutations. Karyotype. An orderly display of magnified images of the individual’s chromosomes Shows the chromosomes as

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Karyotype l.jpg
Karyotype

  • An orderly display of magnified images of the individual’s chromosomes

  • Shows the chromosomes

    as

    they appear in metaphase.


What is a normal karyotype l.jpg
What is a Normal Karyotype?

  • We are supposed to have 46 total chromosomes in each cell (22 pairs of autosomes = 44, + 2 sex chromosomes).


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One source:Amniocentesis

  • Take fluid from amniotic fluid around the baby

  • Can make a karyotype to see if there is a genetic disorder


Preparing a karyotype l.jpg
Preparing a Karyotype

  • 1. Use blood cells.


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Essay: Preparing a Karyotype

  • 2. Burst RBC (red blood cells) in hypotonic solution.

  • Release WBC (white blood cells).


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Essay: Preparing a Karyotype

3. Use a centrifuge to separate the white blood cells from the rest of the blood fluid


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Preparing a Karyotype

  • 4.Add chemical (colchicine) to stop the chromatids in metaphase (stops spindle fibers from forming)


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Preparing a Karyotype (cont)

  • 5. Drop on a slide.


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Preparing a Karyotype (cont)

  • 5. Take a picture

  • 6.Sort by size and shape from largest to smallest



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Types of Karyotypes

  • Fluorescent to detect a marker showing certain defect


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Types of Karyotypes

  • Colored dyes for certain chromosomes


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Types of Karyotypes

  • Ideogram: bands locate sites on chromosome


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Normal Karyotype

  • WHY?

  • Is it a Male or

    a female?



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Down Syndrome

  • Trisomy 21

  • Folds over eyes

  • Sluggish muscles

  • Mental Problems


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Down Syndrome

  • The most common chromosome number abnormality

  • Round face

  • flattened nose bridge

  • small, irregular teeth


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Down Syndrome

  • Short Stature

  • heart defects

  • susceptibility to respiratory infection , leukemia and Alzheimer’s


Does the mother s age matter l.jpg

As the age of the mother increases above 30, the frequency of Trisomy 21 also increases

Does the mother’s age matter?


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Nondisjunction of Trisomy 21 also increases

  • Uneven distribution of chromosomes in cell division


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47 XXY syndrome of Trisomy 21 also increases

male

testes small (sterile)

breast enlargement

feminine body contours

Klinefelter’s

Abnormal Sex Chromosomes


Klinefelter s syndrome l.jpg
Klinefelter’s Syndrome of Trisomy 21 also increases

  • also XXYY, XXXY, XXXXY


Turner syndrome l.jpg
TURNER SYNDROME of Trisomy 21 also increases

  • XO (only one X)

  • short

  • often web of skin between neck and shoulders

  • sterile

  • poor breast development


Turner karyotype l.jpg
Turner Karyotype of Trisomy 21 also increases


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What about… of Trisomy 21 also increases

  • MUTATIONS?


Deletion l.jpg
DELETION of Trisomy 21 also increases

Fragment of the chromosome is lost


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Duplication of Trisomy 21 also increases

Fragment of one chromosome attaches to a homologous chromosome


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Translocation of Trisomy 21 also increases

Fragment reattaches in reverse direction (less likely to produce harm)


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INVERSION of Trisomy 21 also increases

  • The chromosome breaksin two places, a piece of the chromosome is removed and the chromosome pieces remaining rejoin.


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Inversions of Trisomy 21 also increases

  • Inversions, by definition, do not involve loss or gain of chromosomal material.


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INVERSION of Trisomy 21 also increases46,XY,inv(16)

  • The left one is normal and the right one is inverted near the centromere.


45 xx rob 13 14 a robertsonian translocation l.jpg
45,XX,rob(13,14) of Trisomy 21 also increasesA Robertsonian translocation

(an end to end fusion of #13 and #14) There is no net gain or loss of genetic material in this person so they would have a normal phenotype.


Applications l.jpg

Chromosomes from the father of a retarded child... a portion of

chromosome 11 (blue) has been

transfered to chromosome 1(yellow).

Applications


Ideogram l.jpg
Ideogram of

Show only one set of chromosomes