Karyotyping /20

Name: ___________________

In this assignment, you will create a karyotype from a page of mixed chromosomes. Karyotypes are created by matching homologous pairs and numbering them from largest to smallest. Abnormalities, such as extra or deleted chromosomes can then be diagnosed. Pictured chromosomes will be used for this model rather than real chromosomes, but the process is the same for real chromosomes extracted from cell or fetal samples. Karyotyping is one of many techniques that allow doctors to look for several thousand possible genetic diseases in humans.

G Banding
uring mitosis, the !" pairs of human chromosomes condense and are visible with a light microscope. A karyotype analysis usually involves blocking cells in mitosis and staining the condensed chromosomes with #iemsa dye. $he dye stains regions of chromosomes that are rich in the base pairs Adenine %A& and $hymine %$& producing a dark band. A common misconception is that bands represent single genes, but in fact the thinnest bands contain over a million base pairs and potentially hundreds of genes. 'or example, the si(e of one small band is about equal to the entire genetic information for one bacterium.

$wo karyotypes will be created, the first represents a normal human karyotype of a male or a female, the second represents an abnormal karyotype. )ou will then compare and diagnose the abnormality present in the patient of the second karyotype. $he analysis involves comparing chromosomes for their length, the placement of centromeres %areas where the two chromatids are *oined&, and the location and si(es of #+bands.

Normal Human Karyotype

,xamine the page marked -normal-. $hese chromosomes are actually enlarged photographs of what is seen through a microscope. .ote that the sex chromosomes have been labeled as either / or ) chromosomes. 0ut out each chromosome with scissors, to make it go faster, cut them out as squares rather than trying to cut around the margin of each chromosome. Prepare a karyotype of these chromosomes. A karyotype is a pattern or picture of chromosomes from one cell grouped into pairs and organized by size. %! points& ++Pair up each of the chromosomes with its homologous pair, use the si(e and markings on the chromosomes to determine pairs. $emporarily put the two sex chromosomes aside. ++1n a blank paper, arrange the chromosome pairs from largest to smallest and number them. )ou numbers should range from 2%largest& to !!%smallest&. Put the sex chromosomes last, this is pair 3!". #lue or tape the chromosomes to the paper in the correct order. 4ex chromosomes determine the sex of the individual. A female develops when the sex chromosomes match++// . A male develops if the two sex chromosomes are unmatched++/).

2& 5ow many total chromosomes are present in this karyotype6 7777777777777 !& 5ow many chromosomes are present in each cell of this human6 7777777777777 "& oes your karyotype represent a male or a female6 7777777777777777

8& 0hromosomes that are .1$ sex chromosomes are called autosomes. 5ow many total autosomes are present in your normal karyotype6 77777777777777 9ody cells are called somatic cells. 4omatic cells include the skin, liver, muscle, stomach and other body cells. $he karyotype you prepared is from a somatic human cell. $he term diploid chromosome number refers to the number of chromosomes in a somatic cell. $he diploid number varies from species to species, however it does not differ from somatic cell to somatic cell within the same organism. $o find your diploid number, simply count the number of chromosomes in your karyotype. $he diploid chromosome number is also called the 2n number.

5) :hat is the diploid chromosome number for your karyotype6 !n ; 7777777

$he 5AP<1I 05=1>141>, .?>9,= refers to the number of chromosomes in an organism@s sex cells. 4perm in males, eggs in females. $he haploid number, or 1n number is always +half+ that of the diploid number. A& :hat would the haploid chromosome number for your karyotype be6 n ; 777777 bnormal Human Karyotype ++,xamine the page marked -Abnormal-. <ook at the top corner. :hat 4et do you have6 7777777 ++Prepare a second karyotype as you did the first. %! points& In this karyotype, you will discover an abnormality in the chromosome number. 'inding incorrect chromosomes numbers in human somatic cells of an unborn baby alerts doctors to the fact that their child is abnormal and will be born with birth defects. B& 5ow many chromosomes are present in the abnormal karyotypeC 77777777 D& :hat is the diploid chromosome number for this karyotypeC !n ; 7777777 E& :hich chromosome pair is abnormal6 7777777777 2F& :hat syndrome does this unborn child have6 777777777777777777777777777777777777777 22& :hat sex will the unborn child be6 7777777777777777 <ab technicians compile karyotypes and then use a specific notation to characteri(e the karyotype. $his notation includes the total number of chromosomes, the sex chromosomes, and any extra or missing autosomal chromosomes. 'or example, !"# $%# &1' indicates that the patient has 8B chromosomes, is a male, and has an extra autosomal chromosome 2D. !(# $$ is a female with a normal number of chromosomes. !"# $$% is a patient with an extra sex chromosome. 2!& :hat notation would you use to characteri(e the normal karyotype6 7777777777777777 2"& :hat notation would you use to characteri(e the abnormal karyotype6 77777777777777 28& #ive a short description of the syndrome that you identified in question 32F. %" points&