Review_L27-29-ans

Joanna Ho
joannaho@hku.hk

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 Quiz 1
In this diagram of the process of DNA replication at a replication fork, the strand
labeled B is the:

A. template strand
B. lagging strand
C. leading strand
D. Okazaki fragment
E. RNA primer

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 Quiz 2
In this diagram of the process of DNA replication at a
replication fork, the black boxes labeled D and E are:

A. RNA primers
B. DNA template strands
C. Okazaki fragments
D. DNA polymerase
E. Newly synthesized DNA strand

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 Quiz 3
For the DNA strand 5'-TACGATCATAT-3' the correct
mRNA strand is:

A. 3'-UACGAUCAUAU-5'
B. 3'-AUGCUAGUAUA-5'
C. 3'-ATGCTAGTATA-5'
D. 3'-GCAUAUACGCG-5'
E. 3'-UAUACUAGCAU-5

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 Quiz 4
Three types of RNA involved in comprising the structural and functional core for
protein synthesis, serving as a template for translation, and transporting amino acid,
respectively, are:
A. mRNA, tRNA, rRNA
B. rRNA, tRNA, mRNA
C. tRNA, mRNA, rRNA
D. tRNA, rRNA, mRNA
E. rRNA, mRNA ,tRNA
rRNA's serve a structural and functional role in protein synthesis as a component of the ribosome. The
transpeptidation reaction has been shown to be caused by rRNA. mRNA is transcribed from DNA to be
used as a template for protein synthesis. The tRNAs bring the correct amino acid into the protein
synthesis process.

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 Quiz 5
Codon-anticodon base pairing

With what mRNA codon would the tRNA in the diagram be able to form a codon-
anticodon base pairing interaction?

A. 3'-AUG-5
The key is knowing that the sequences must be antiparallel. An anticodon of
5'-UAC would have to bind a codon of 5'-GUA which is the same as AUG-5'.
B. 3'-GUA-5'
C. 3'-CAU-5'
D. 3'-UAC-5'
E. 3'-UAG-5'

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 Mini-case 1
Red-green color blindness is X-linked in humans. If a male is
red-green color blind, and both parents have normal color
vision, which of the male's grandparents is most likely to be
red-green color blind?

A. maternal grandmother
B. maternal grandfather
C. paternal grandmother
D. paternal grandfather
E. either grandfather is equally likely

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 Mini-case 1

1. Think stepwise:
If it is X-linked, then this affected male (XY) must have got
it from his mother (XX), and not from his father. Hence, the
mother is a carrier.
Since the mother is a carrier rather than affected, this trait
must be a recessive trait rather than a dominant trait.
So this red-green color blindness is X-linked recessive, Xa,
ie, the mother is XaX.
Which maternal grandparent is then likely to have passed
on the trait?
The following could all be possible for the maternal
grandparents: grandmother can be XaX or XaXa;
grandfather can be XaY.
But for the grandparents to be also affected, ie, red-green
blind, there are only 2 possibilities: grandma is XaXa, or the
grandpa is XaY.
However, chance is most likely that the maternal grandpa
is XaY.
So the answer is B

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 Mini-case 2
A couple has a female child with Tay Sachs disease, and three
unaffected children. Neither parent nor any of the four
biological grandparents of the affected child has had this
disease. The most likely genetic explanation is that Tay Sachs
disease is inherited as a(n) ______________ disease.

A. autosomal dominant
B. autosomal recessive
C. sex-linked recessive
D. sex-linked dominant
E. cannot make a reasonable guess from this information

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This disease is recessive because both parents
are not affected. It is not X-linked, otherwise,
the affect females father would not affected.
So the answer is B.

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 Mini-case 3
A human geneticist determined the pedigree shown in the diagram with filled symbols
showing the affected individuals. How is this pattern of inheritance described?

A. autosomal dominant
B. autosomal recessive
C. sex-linked recessive
D. sex-linked dominant
E. none of these

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 Mini-case 3
Let R represents the affected allele which is dominant,
r represent the normal allele which is recessive.

So the affected father in G-I has either the Rr or RR alleles,

and his wife has the rr
Father (G-I) Father (G-I)

Mother (G-I)
Mother (G-I)

R r R R
r Rr rr r Rr Rr
r Rr rr r Rr Rr

In this case, 50% of the G-II are In this case, 100% G-II
affected, and 50% are not. Okay, are affected!
the illustrated pedigree tree for
G-II shows exactly this pattern!
But hold on, lets look at G-III.

However, the pedigree tree suggests that it is likely the affected father in G-I has the Rr alleles!
Since exactly 50% of the G-II are affected.
SO lets assume the affected daughter in G-II also has Rr alleles
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 Mini-case 3
Let R represents the affected allele which is dominant,
r represent the normal allele which is recessive.

So the affected mother in G-II (daughter to affected father from G-I) has the Rr alleles,
and her husband has the rr alleles

Father (G-II)
Mother (G-II)

r r
R Rr Rr
r rr rr

The only option (vs 2 options

shown on slide 15) - 50% of the
G-III are affected, and 50% are
not. Okay, the illustrated
pedigree tree for G-III shows 30%
affected.

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 Mini-case 3
G-I, G-II, G-III are
Some of you suggest that the answer can also be B, ie autosomal recessive. referring to the
Id say yes, but less likely. three generations
Lets assume the answer is B. shown in the
Let R represents the normal allele which is dominant, pedigree tree!
r represent the affected allele which is recessive.

So the affected father in G-I has the rr alleles, and his wife might have RR or Rr alleles.

Father (G-I) Father (G-I)

Mother (G-I)
r r
Mother (G-I)

r r
R Rr Rr R Rr Rr
R Rr Rr r rr rr

In the above case, all G-II In the above case, 50% of the G-II are
are not affected but are affected, and 50% are carriers. Okay, the
all carriers illustrated pedigree tree for G-II shows
exactly this pattern! But hold on, lets look
at G-III.

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 Mini-case 3
Let R represents the normal allele which is dominant,
r represent the affected allele which is recessive.
So the affected mother in G-II has the rr alleles, and her husband might be RR or Rr

Father (G-II) Father (G-II)

Mother (G-II)
Mother (G-II)

R r R R
r Rr rr r Rr Rr
r Rr rr r Rr Rr

Option 1, 50% of the G- Option 2, all G-III are

III are affected, and 50% carriers, but 0% are
are not. affected.
Indeed, you may have a same pedigree tree pattern (see case 3), but the chances are less likely for the following reasons:
usually, we dont single out just option one here and compare with chance shown on slide 13, instead, probability should first
be worked out here considering both option 1 and 2 (which is with respect to the father being RR and Rr) before compare with
one shown on slide 13, moreover, the chance for option one here is considered rarer (refer to Case 1), although consanguineous
mating will greatly increase having option 1 Hence less likely to reach 1/3 affected in G-III.
Taking all into consideration, Id like you to appreciate that pedigree tree give you good predictions, but there are more precise
lab methods to provide more precise conclusions.
Welcome to explore more, but as a basic rule of thumb, you should take the general advice on the a short cut conclusion in that
when you see the trait in every generation, consider it is dominant. (of course, it is not always correct! However, the chances is
high as you maybe able to appreciate from this case I hope).

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 Mini-case 4
Why would you predict that half of the human babies born will be males and
half will be females?

A. Because of the segregation of the X and Y chromosomes during male

meiosis.
B. Because of the segregation of the X chromosomes during female meiosis.
C. Because all eggs contain an X chromosome.
D. Because, on average, one-half of all eggs produce females.

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Mini-case 4

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 Mini-case 5
A man who had purple ears came to the attention of a
human geneticist. The human geneticist did a pedigree
analysis and made the following observations:
In this family, purple ears proved to be an inherited trait due
to a single genetic locus. The man's mother and one sister
also had purple ears, but his father, his brother, and two
other sisters had normal ears. The man and his normal-eared
wife had seven children, including four boys and three girls.
Two girls and two boys had purple ears. The purple-ear trait
is most probably:
A. autosomal, dominant
B. autosomal, recessive
C. sex-linked, dominant
D. sex-linked, recessive
E. cannot be determined from this information
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Mini-case 5

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Mini-case 6
The following is an edited version of an email
exchange that occurred in response to the
human genetics tutorial at the Biology Project:
First Message from a concerned
grandmother:
I am wondering how to find out blood type of
my grandson...my daughter is A+..father is in
question...she is stressed to the max on the
father of this baby boy.
What is the most common blood type and
the most common donor and common
receiver?
Answer to First Message by Professor Hallick:
Blood type analysis can occasionally rule out
a potential father (i.e. if the mother is type A
and the child is type O, the father could not be
type AB, but could be type A, B, or O), but is
not a method that can be used to establish
paternity.
If the paternity of your grandson needs to be
established for legal reasons, such as
establishing responsibility for child support, a
DNA test would be the accepted method.
There are commercial laboratories that will do
the test for a fee (several hundred dollars).
Blood samples would be required from the
mother, child, and any alleged fathers.
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Second Message from grandmother:
Thanks so much for your prompt reply. Here
is the scenario....paternity isn't going to be
established...it is going to lay...for lack of a
better expression. My daughter is type A, my
grandson is type B+, we do not know the
types of the two gentlemen in question...my
question is what are the types that the fathers
would have to be in order for him to be a B+?
What is the correct answer to the
grandmother's question, "What are the types
that the fathers would have to be in order for
him (grandson) to be a B+?"
A. B or O
B. A, B, AB or O
C. AB or B
D. A or B
E. A, B, or AB
By the way, in the case description,
the + signs attached to type A and
B refer to Rhesus positive, you may
want to google it if you dont already
know what it is.
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Mini-case 6

Since the child is type B, and the

mother is A, then the child must have
inherited an O allele from the
mother, and B allele from the father.
Hence, the child must be BO and the
mother is AO.
The father cannot be O or A, but can
be B or AB.
So the answer is C.

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 References

As I have mentioned in the class, youre welcome to tap into the reference sites that I have used with you for further
study references:
DNA replication (https://www.youtube.com/watch?v=5qSrmeiWsuc&index=8&list=PLoE0E8drUvcJXHxQXOjMQ-
MPt9z5JFO71)
Transcription and translation an overview
(https://www.youtube.com/watch?v=6YqPLgNjR4Q&list=PLoE0E8drUvcJXHxQXOjMQ-MPt9z5JFO71&index=9)
Case studies selected from the following resources
(http://www.biology.arizona.edu/human_bio/problem_sets/human_genetics/human_genetics.html)

Mini Case 1 (http://www.biology.arizona.edu/human_bio/problem_sets/human_genetics/01t.html)

Mini Case 2 (http://www.biology.arizona.edu/human_bio/problem_sets/human_genetics/04Q.html)
Mini case 3 (http://www.biology.arizona.edu/human_bio/problem_sets/human_genetics/05t.html)
Mini case 4 (http://www.biology.arizona.edu/human_bio/problem_sets/human_genetics/09c.html)
Mini case 5 (http://www.biology.arizona.edu/human_bio/problem_sets/human_genetics/10t.html)
Mini case 6 (http://www.biology.arizona.edu/human_bio/problem_sets/human_genetics/19Q.html)

If you find these human genetics cases too hard, then just study the rules I provided in the lecture power points
and thinking steps shown in the above answer slides.

Feel free to ask questions.

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