http://www.biology.arizona.edu/HUMAN_BIO/ACTIVITIES/KARYOTYPING/karyotyping.html
Analysis1. Examining Data
Examine your karyotype.
Patient
|
Sex
|
Number of chromosomes
|
Chromosomal Abnormality
|
Diagnosis
|
A
|
female
|
49
|
Trisomy 21, extra chromosome 21
|
Down’s Syndrome
|
B
|
male
|
49
|
one extra sex chromosomes (XXY)
|
Klinefelter's Syndrome
|
C
|
male
|
49
|
extra chromosome 13
|
Trisomy 13 Syndrome
|
2.Explaining Events
The Y chromosome closely resembles many of theother chromosomes. What did you have to do to determine that it was theY chromosome?
We can measure the length of chromosome (it is shorter than X chromosome) and position of the centromere. It is possible to determine that this chromosome has no pair, so we understand that it is different from others by length.
3. Recognizing Patterns
If the karyotype you constructed was for a femalewith Down syndrome, what chromosome changes would be evident?
There would be 47 instead of 46. An extra chromosome indicating Trisomy 21 (extra chromosome 21) or, in other words, Down’s syndrome. 2 X chromosomes indicate a female.
4. Identifying Relationships
A pedigree is a diagram that shows the presenceor absence of a trait in each person in each generation. How does a karyotypediffer from a pedigree?
Pedigree represents a pattern of inheritance of a trait present or absent in family members. Karyotype shows the number of chromosome pairs in a cell nucleus of an individual.
Conclusions1. Interpreting Information
If your job were to inform the parents of the fetusof their test results, what would you say?
We can identify if fetus is a male or a female (XX/XY chromosomes) and it has any chromosome abnormalities (Klinefelter's Syndrome/Trisomy 13 Syndrome/Down’s Syndrome)
2. Drawing Conclusions
Why are karyotypes important tools for geneticists?
Karyotype examines chromosomes in a sample of cells. It helps to see if pairs of chromosomes match and we can find out if there are any genetic problems which might cause diseases.
3. Evaluating Models
Can the analysis of a karyotype reveal point mutations?Explain your answer.
It is impossible to reveal point mutation by analys of a karyotype. Only chromosome mutations can be found. Point mutations involve base pairs in the DNA
4. Applying Conclusions
You have prepared a karyotype of an individual andhave found that one of the chromatids of chromosome 4 is shorter than itshomologue. What can you conclude has happened to this chromosome?
Part of a chromosome has been lost due to deletion and this can be fatal for fetus.
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