Human Genetics

This section will concentrate on human genetic diseases and some of the recent advances in biotechnology that will affect us in the future.

A) Web site name: National Academy of Sciences, Human Gene Testing

Web URL: http://www.beyonddiscovery.org/content/view.article.asp?a=239

Read “Human Gene Testing”.

1) If you inherit the gene MSH2, what are your risks of developing colon cancer? ______________ %

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2) What did Oswald Avery and others show in their experiment in 1944?_______________________________________________________________________________________________________________________________________________________________________________________

3) What contribution did Watson and Crick later make? __________________ __________________________________________________________________________________________________________________________

4) How many bases in DNA code for one amino acid? ___________________

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5) How many hereditary diseases are there? ____________________________

6) What happened when researchers tried to break up DNA into more manageable pieces? _____________________________________________ _____________________________________________________________

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7) The first chromosome to be physically mapped was obtained from which organism? ____________________________________________________

8) What is the general name for a DNA cutting enzyme?__________________________ enzyme

9) What does “ligase” do? __________________________________________

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10) When DNA fragments are separated using Edward Southern’s technique, which size of fragment moves fastest: a large fragment, a medium sized one, or a small fragment? ____________________________________________

11) What is a “probe”? _____________________________________________ _____________________________________________________________

12) What was the first prenatal test developed using Southern Blotting? _______

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13) What are the symptoms of sickle cell anemia? ________________________ _____________________________________________________________

14) How many base pairs long is the RFLP ( containing the beta-hemoglobin gene) that is characteristic of sickle cell anemia? ______________________

15) How do RFLPs allow scientists to locate or isolate a disease gene? _______ __________________________________________________________________________________________________________________________

16) Which chromosome contains the gene for the eye cancer retinoblastoma? ____________________________

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17) Which two scientists, one at Harvard and one at Cambridge, developed methods for sequencing DNA? ____________________________________

18) How many genetic diseases have been found by positional cloning? _______

Once a particular gene has been found, the only way to cure the genetic disease is through “gene therapy”: replacing the defective gene with the normal, correct gene.B) Web site name: BBC News ( July 17, 2003 )

Web URL: http://news.bbc.co.uk/2/hi/uk_news/england/derbyshire/3075919.stm

Read “Bubble boy bounces back”

19) What did this rare inherited condition X-SCID do to Christopher? __________________________________________________________________________________________________________________________

20) What does SCID stand for? ______________________________________ _____________________________________________________________

21) Which chromosome does this disorder affect? ______________________

22) Why was he barred from seeing other youngsters? __________________________________________________________________________________________________________________________

23) How was the artificial gene inserted into his body?____________________ _____________________________________________________________

24) Is this treatment a complete cure? _________ Explain why: __________________________________________________________________________________________________________________________

25) Why will their unborn daughter not suffer from this disease? ____________ _____________________________________________________________

C) Web site name: Thinkquest

Web URL: http://library.thinkquest.org/20830/Frameless/Manipulating/Experimentation/Cloning/longdoc.htm

Read “History of cloning” 26) What is a clone? _______________________________________________

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27) What animal did Hans Dreich use in his experiments? ________________

28) What animal was cloned by nuclear transfer in 1951? __________________ 29) Why did scientists not believe the German in 1977 who claimed to clone

mice? ________________________________________________________ __________________________________________________________________________________________________________________________

30) What big advance did Ian Wilmont make in cloning? __________________ ____________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

31) Who was Dolly the sheep named after? ____________________________

32) What is the success rate of the Honolulu team working with mice? _____________________________________________________________

D) Web site name: BBC News

Web URL: http://news.bbc.co.uk/1/hi/sci/tech/1740879.stm

Read “Pig cloning race hots up”

33) What are the tissues or organs of these pigs designed, or engineered, for? ____________________________________________________________

34) Why are pigs good candidates for “xenotransplantation”? ____________________________________________________________

35) What problem could be caused by xenotransplantation? __________________________________________________________________________________________________________________________

36) Which human disease are the PPL scientists hoping to cure?_____________________________________________________________

E) Web site name: BBC News (August, 2004)

Web URL: http://news.bbc.co.uk/2/hi/health/3554474.stm

A new technique called “therapeutic cloning” involves taking a cell, like a skin cell, from a patient, putting its nucleus into the cytoplasm of an egg and then growing cells that are genetically identical to the patient. Unlike “reproductive cloning”, which would produce a baby, therapeutic cloning would produce cells that would be put back into the patient’s own body.

Read the article “Scientists given cloning go-ahead”.

37). Which three diseases could therapeutic cloning be useful for treating?_____________________________________________________________

38). How long will it be before patients could receive stem cells? ____________

39). Where do the eggs for therapeutic cloning come from? _____________________________________________________________

40). What alternative does the pro-life group suggest?_____________________________________________________________

41). What is the punishment for reproductive cloning?_____________________________________________________________

42). Do you personally think that research in therapeutic cloning is a good idea?Explain your answer: _________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

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