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Human Karyotypes and Chromosome Disorders


Background Information
A picture of chromosomes arranged as homologous pairs is called a karyotype. In order to get such a picture, technicians in cytogenetic labs culture white blood cells from a patient and let them divide. They add a chemical called colchicine, which interferes with the spindle fibers during mitosis and cells are stopped at the metaphase stage. The cells are then collected, stained, observed under a microscope and photographed. The picture is enlarged and the chromosomes are cut out and arranged in pairs following a guide. Because of the stains used, characteristic banding patterns are obtained with each chromosome. Below is a picture of a normal karyotype from a male:

Chromosomes and non-disjunction Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. The effects of the extra copy vary greatly among individuals, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Trisomy 21 is caused by a defect in meiosis called nondisjunction. With nondisjunction, a gamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21. For more information about Down syndrom go here: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/

Figure 1 Karyotype of female with trisomy 21

Turner syndrome or monosomy X is characterized by the presence of a single complete functioning sexdetermining chromosome, the X chromosome, instead of two, either XX or XY. There are no males that have monosomy X because the condition is fatal (males must have the genes located on the X chromosome to survive. Monosomy X is also mainly caused by nondisjunction. For more information about Turner syndrome go here: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/

Figure 2 Karyotype of a female with Turners syndrome Klinefelter's syndrome, or XXY syndrome is a condition caused by a non-disjunction in males; affected individuals have a pair of X sex chromosomes instead of just one. This only occurs in males. Most often, this chromosomal change causes no unusual physical features or medical problems. XYY boys and men are usually taller than average and several centimeters taller than their parents and siblings and may have severe acne. For more information about Klinefelters syndrome go here: http://www.genome.gov/19519068

Figure 3 Karyotype of a male with XXY syndrome

Chromosomes and Cancer Many of us know of someone who have or have had cancer. Cancer can occur when cells lose control of their cell cycle and divide abnormally. This happens when tumor suppressor genes, such as p53 or Rb (retinoblastoma), are mutated. There are many questions you should consider before beginning your investigation. 1) How is the cell cycle controlled in normal cells? 2) What are cyclins and cyclin-dependent kinases? What do these proteins do in a cell? 3) How are normal cells and cancer cells different from each other? 4) What are the main causes of cancer? 5) What goes wrong during the cell cycle in cancer cells? 6) What makes some genes responsible for an increased risk of certain cancers? 7) Do you think that the chromosomes might be different between normal and cancer cells? The last question will be our focus. What are some differences between the chromosomes of a cancer cell in comparison to a normal cell and how those differences are related to the behavior of the cancer cell? For each of the following cases, look at pictures of the karyotype from normal human cells (above). Compare them to pictures of chromosomes from cancer cells (below). For each case, count the number of chromosomes in each type of cell, and discuss their appearance. Case 1: HeLa cells HeLA cells are cervical cancer cells isolated from a woman named Henrietta Lacks. Her cells have been cultured since 1951 and used in numerous scientific experiments. Henrietta Lacks died from her cancer not long after her cells were isolated. Lackss cancer cells contain remnants of human papillomavirus (HPV), which we now know increases the risk of cervical cancer. 8) From your observations, what went wrong in Henrietta Lackss cervical cells that made them cancerous? 9) How does infection with human papillomavirus (HPV) increase the risk of cervical cancer?

Case 2: Philadelphia Chromosomes In normal cells, mitosis usually is blocked if there is DNA damage. Sometimes, though, DNA damage makes cells divide more often. Certain forms of leukemia have a unique feature called a Philadelphia chromosome. Look at the karyotype of leukemia cells in the figure below and answer the following questions: 10) What happens in a normal cell if the DNA has mutations? 11) What would happen if cells with mutated DNA replicate? 12) How do cells monitor DNA integrity? 13) How are the chromosomes different in the cancer cells compared to normal cells? 14) How could these differences lead to cancer?