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polydactyly(having more than five fingers on a hand)is much more common in some isolated human populations than it is elsewhere. This is most likely an example of an...........which is due to the evolutionary mechanisms called.........
select one:
a) founder effect; gene flow
b) founder effect;genetic drift
c) adaptation;gene flow
d) genetic ratchet;gene flow
e) genetic ratchet; genetic drift

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Question 21 pts

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Question 131 pts

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Question 141 pts

A change from one nucleotide to another nucleotide is known as awhat?

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According to the Typological Species Concept, species are:

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Recognizing reproductive isolation is key to defining speciesunder the Biological Species Concept.

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b) natural selection.

c) the inheritance of acquired characteristics.

d) catastrophism.

e) the fixity of species.

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a) Selection only affects one gene at a time.

b) The effects of many alleles are hidden from selection by the effects of other alleles

c) Mutation constantly adds new alleles at an extremely fast rate.

d) Populations always go extinct before their gene frequencies are dramatically altered.

e) Only a and c

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Meiosis is evolutionarily significant because:
a) New combination of alleles can arise through independent assortment and crossing over

22.

23.

24.

25.

26.

b) It is the mechanism by which body tissues are repaired
c) It creates somatic cells that are crucial for our body organs to maintain us alive d) It allows forensics to determine the cause of death of unidentified people
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Homologous chromosomes:

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b) Are members of different chromosome pairs
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How many chromosome pairs occur in a normal human somatic cell?

a) 46 b) 23 c) 22 d) 24 e) 45

What is the scientific method? Use bullet points to describe the 4 major components.

How is a hypothesis different from a theory?

List the four major components (described during class) necessary for natural selection to occur [AKA Darwin’s Four Postulates] (PDF1-3).

27. Who was Thomas Malthus? In what way(s) Malthus was influential for Darwin’s Theory of Natural Selection? Hint: populations vs resources.

29. What amino acids are being coded for by the gene segment provided below? Nucleotide triplets and their corresponding amino acids are:
ACA= Cysteine; AAA=Phenylalanine; TGG=Threonine; CCT=Glycine; GAT=Leucine; ATA=Tyrosine; AGG=Serine; TCT=Arginine

a) Threonine, serine, glycine, tyrosine, leucine, phenylalanine, arginine, cysteine.

b) Tyrosine, leucine, glycine, threonine, arginine, threonine, serine, cysteine.

c) Arginine, cysteine, serine, glycine, threonine, leucine, phenylalanine, tyrosine.

d) Phenylalanine, leucine, tyrosine, glycine, serine, threonine, cysteine, arginine.

e) Phenylalanine, leucine, tyrosine, glycine, threonine, phenylalanine, arginine, serine.

Cystic Fibrosis (CF) is an autosomal recessive genetic disease that is characterized by the secretion of thick, abnormal mucous in the lungs. The mutated gene that leads these symptoms is the CF transmembrane conductance regulator (CFTR gene). The encoded protein is a chloride channel that moves chloride ions out of epithelial cells. In a homozygous individual, the lack of this chloride channel function in a mutant slows the flow of water into extracellular spaces. This lack of water export leads to the heavy mucus in the lungs of CF patients. Although children with CF would die in childhood, current treatments provide life expectancies into the 30’s.

CF is the most frequently inherited genetic disorder among American children. It affects 1 of every 2,500 children; 30,000 currently have the disease. Although its frequency is higher in European populations, it affects all human populations. Heterozygous carrier frequencies in the US are estimated to be 1 out of 29 Caucasians, 1 out of 46 Hispanics, 1 out of 61 African Americans and 1 out of 90 Asians. There are genetic screens for carriers of CF but they are not routinely performed despite this high frequency of carriers. At least all states in the US proscribe testing of newborns to identify children with CF early so that treatment can be started. Newborn tests for CF: http://www.cff.org/AboutCF/Testing/NewbornScreening/ScreeningforCF/ . If CF is such a common genetic disease, and such a simple Mendelian trait, why is genetic screening of parents not done more frequently? Is it just economic, a pain to do, or is it more complex such that the results of genetic testing are not just positive or negative?

Answer the following questions:
1. If two parents are heterozygous carriers of CF, show a pedigree with four children showing the incidence of carriers and afflicted children. If each unafflicted child (carrier or not) mates with another person, who has a 1 out of 30 chance of being a carrier of CF, what is the expected incidence CF disease in the third generation (frequency of CF in any one of grandchildren of the original couple)?

2. Pleiotropy of Cystic Fibrosis. Watch the two videos on the left at:

http://www.cftrscience.com/MOD-animation
or, if you can not view these, read the short NIH Genetics Home Reference for Cystic Fibrosis http://ghr.nlm.nih.gov/condition/cystic-fibrosis

Connect the description with one of the following videos, or related ones (there are many) you see:
video (10 minutes) of daily life of a child with Cystic Fibrosis http://www.youtube.com/watch?v=WUsuGKzdDg8
Laura’s (20 year old) video diary of life with CF http://www.youtube.com/watch?v=Pgrf8qJXhpc&feature=related

In your own words, describe the range of CF phenotypes. List the other organs besides lungs that are affected and how does it affects those organs.

3.The DNA sequence of the CFTR gene is 170,000 base pairs in length and encodes the CFTR protein that is 1480 amino acids long. Open the accompanying text file (in Canvas/Files/Discussion folder) “CFTR gene DNA sequence”. You will see an alignment of the NIH human genome sequence of the CFTR gene – called “Reference” rather than “wild-type”- against a gene sequence containing a common mutation in CFTR. Look at the alignment and determine how the DNA sequence differs between them. What is the position number where they differ? How many and what nucleotides do they differ in? A “-“ mark in one sequence in the alignment means that that base sequence is missing the corresponding bases in the other sequence. The sequence is a long one but the differences are in bolded bright red text. Matching sequence is marked with a | linking the two sequences. Look near the sequence AAATATCATC if you use FIND tool in Word.

In another file, you will an alignment of the reference translated into a protein sequence, compared to the mutant allele translated into protein sequence. The differences are again in red whereas the areas where the proteins match are in black. Look at the alignment. How do these two proteins differ? Again, find the position number and describe how they differ at that location. A “-“ mark in the alignment means that amino acid is missing when compared to the other sequence.

4. Given that the CFTR gene can be analyzed for a mutation that causes CF, couples interested in being tested as carriers face several choices given the results.
What could be a consequence of a false positive result (couple is identified as carriers but they would not produce any children with symptoms)?

What could be a consequence of a false negative result (a test indicates the couple is not both carriers but they would produce some children with CF)?

5. The sensitivity of the test can vary with ethnic group. The following is a chart from the NCBI Genetic testing site. A sensitivity less than 100% would be likely to produce false negative results from an inability to determine that someone is carrier.

CF Carrier Test Sensitivity by Ethnic Group
http://www.ncbi.nlm.nih.gov/projects/GeneTests/static/concepts/primer/ptscarr5.shtml

Ethnic Group 1

Population Frequency of CF

Sensitivity of Carrier Detection 2

Caucasian

1 in 29

90%

Ashkenazi Jewish

1 in 29

97%

Native American

1 in 32

94%

Latino

1 in 46

57%

African-American

1 in 60

75%

Asian

1 in 90

30%

Why might different ethnic populations differ in the ability of the genetic test to identify carriers of CF?

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