Download 14-1 Human Heredity

14-1 Human Heredity
Name ________________________________
1. What two organisms are called “model” organisms for genetics? ____________________________
2. What is a karyotype? _______________________________________________________________
3. How many chromosomes are in a normal human? _________
4. For sex chromosomes, females have __________ and males have __________
5. The other 44 chromosomes that are not related to sex are called _____________________________
6. Human geneticists must establish that a trait is actually inherited and not the result of
___________________________
________________________________
7. A _____________________________________chart shows how a trait is inherited in a family.
8. See Fig 14-3.
a. How many children did the original parents in the family have? __________
b. How many grandchildren have the white forelock trait? _______________
c. A circle represents a ______________________________
9. What does “polygenic” mean? ________________________________________________
10. What environmental factor has improved the height of Americans? __________________________
11. Our complete set of genetic information is called The _________________ ___________________
12. Compared to peas and fruit flies, humans produce [ many / few ] offspring.
13. What was one of the first human genes to be identified? __________________________________
14. What happens if a person is given the wrong type of blood? ________________________________
15. What does Rh stand for? _________________________________________
16. A person who is Rh negative has [ two Rh- alleles | only one Rh- allele ]
17. How many alleles are there for blood type? _____________________
18. The alleles for blood type produce different _____________________ on the surface of red blood
cells.
19. People with PKU lack the _____________________ needed to break down phenylalanine. Can a
child born with PKU survive? ________
20. What group of people are most likely to carry Tay Sachs disease? _________________
Is there a cure for Tay Sachs? ______________
21. See Figure 14-6. Match the symptom to the disorder.
______mental deterioration and uncontrollable movement
a. albinism
______ mucus builds up in the lungs
b. Huntington’s disease
______ lack of pigment in skin and eyes
c. cystic fibrosis
22. Name two disorders caused by dominant alleles:
_____________________________________________________________________________
23. What group of people is affected by Sickle cell disease? __________________________________
From Gene to Molecule
24. In both cystic fibrosis and sickle cell disease, a small change in the DNA of a single __________
affects the structure of a __________________________, causing a serious genetic disorder.
25. What group of people are affected by Cystic Fibrosis? _________________________________
26. In patients with cyctic fibrosis, ____________________________ ions build up which causes
tissues to malfunction.
27. Sickle shaped cells tend to get stuck in ___________________________________________
This can damage tissues and _________________________________
28. What protein in red blood cells carries oxygen? ____________________________________
29. People who are heterozygous for sickle cells are resistant to what disease? ___________________
30. The sickle cell alleles are thought to be _____________________________ because both alleles
contribute to the phenotype. How many different phenotypes are associated with the sickle cell allele?
_______________
14-2 Human Chromosomes – Reading Guide
1. Genes make up only a small part of chromosomes; only about _________% of chromosome’s
DNA functions as genes.
2. The first two human chromosomes whose sequences were determined were chromosome
______ & ______.
3. Chromosome 21 contains about _______ genes, including one associated with amyotropic lateral
sclerosis (ALS).
4. ALS is also known as _____________
___________________ _______________________.
5. Describe the effect of ALS.
______________________________________________________________________
_____________________________________________________________________________
____
6. Genes on the X and Y chromosome are said to be ___________________ - _______________
_____________
7. Which sex chromosome carries more genes? X or Y ( circle one)
8. Colorblindness is the inability to distinguish certain color. What is the most common form of this
disorder? __________________________________________________________
9. Males have just one __________ chromosome. So, all X-linked alleles are expressed in
____________ even if they are ______________________.
10. ________________________ is another example of a sex-linked disorder in which two genes on
the X chromosome help control ___________________
____________________________.
11. Duchenne Muscular Dystrophy is a sex-linked disorder that results in ___________________
________________ and ________________________________________________________.
12. In the U.S. one out of every _____________ males is born with Duchenne M.D.
13. Females have two X chromosomes, males have only one. How does the cell “adjust” to the extra
X chromosome in female cells? ___________________________________________________
14. The turned-off chromosome forms a dense region in the nucleus known as a ________________
__________.
15. Drawing conclusions: After reading the section on X-Chromosome inactivation, look at fig 1414. Is the cat shown a male or a female? ___________________________
16. The error in meiosis when nonhomologous ________________________ fail to separate is
called _______________________________.
17. Nondisjunction causes ___________________ to have abnormal numbers of chromosomes.
18. Three copies of an autosomal chromosome is known as ___________________________.
19. The most common form of trisomy is trisomy 21 and is called _______________
_______________________.
20. Give two examples of nondisjunction among the sex chromosomes.
____________________________________
21. What is the sex of an individual with Turner’s syndrome? ___________________
22. How many chromosomes does an individual with Klinefelter’s syndrome generally have?
_________________
Reading Guide 14-3 Human Molecular Genetics
Human DNA Analysis
1. Biologist can now read, _______________________, and even change the molecular code of
genes.
2. _______________ _______________ are now available for hundreds of disorders, making it
possible to determine whether prospective parents risk passing such alleles to their
_______________.
3. No individual is exactly like any other ___________________________, except, of course,
for _______________________________ twins.
4. DNA fingerprinting ___________________________ sections of DNA that have
little or no known function but vary widely from one individual to another.
5. Figure 14-18 shows how DNA fingerprinting works.
a. DNA is ____________ with restriction enzymes
b. Fragments are separated by _______________ using gel electrophoresis.
c. This produces a series of bands, the DNA _______________________.
6. A pattern of bands is produced that can be ________________________________
statistically from the pattern of any other individual in the __________________________.
7. The _________________________________ of DNA evidence has helped convict criminals as
well as overturn many convictions.
The Human Genome Project (HGP)
8. The human genome contains over __________ __________ base pairs.
9. The HGP is an ongoing effort to _________________________ the human DNA sequence.
10. Dr. Francis Collins and Dr. Craig Venter, who headed the public and private portions of the
project, jointly announced the completion of a working draft of the human genome sequence.
When did this project begin? _____________________ When was it completed?
__________________________
11. Only a small part of the DNA molecule is made up of _______________.
12. Research groups around the world are analyzing the huge amount of information in the DNA
sequence;
a. looking for genes that may provide useful clues to some of the basic _________________
of life.
b. _______________________ the structure and control of key genes may have commercial
value
c. Finding ____________________ information that may be useful in developing new
_____________________ and _______________________ for diseases.
13. From the very beginning, data from publicly supported research on the human genome have
been posted on the ________________ on a daily basis.
Gene Therapy
14. In gene therapy, an _______________ or _______________ gene is replaced by a normal,
working gene.
15. _______________ are often used because of their ability to enter a cell’s DNA.
16. Gene therapy remains a _______________- __________________, experimental procedure.
Ethical Issues in Human Genetics
17. What is the goal of biology? ______________________________________________________
_________________________________________________________________________________