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Joanna Ho
joannaho@hku.hk
BMSN2202_For 2015-16_J HO 1
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
A. RNA primers
B. DNA template strands
C. Okazaki fragments
D. DNA polymerase
E. Newly synthesized DNA strand
A. 3'-UACGAUCAUAU-5'
B. 3'-AUGCUAGUAUA-5'
C. 3'-ATGCTAGTATA-5'
D. 3'-GCAUAUACGCG-5'
E. 3'-UAUACUAGCAU-5
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'
A. maternal grandmother
B. maternal grandfather
C. paternal grandmother
D. paternal grandfather
E. either grandfather is equally likely
BMSN2202_For 2015-16_J HO 7
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
BMSN2202_For 2015-16_J HO 8
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
BMSN2202_For 2015-16_J HO 9
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.
BMSN2202_For 2015-16_J HO 10
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
BMSN2202_For 2015-16_J HO 11
Mini-case 3
Let R represents the affected allele which is dominant,
r represent the normal allele which is recessive.
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
BMSN2202_For 2015-16_J HO 12
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
BMSN2202_For 2015-16_J HO 13
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.
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.
BMSN2202_For 2015-16_J HO 14
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
Mother (G-II)
Mother (G-II)
R r R R
r Rr rr r Rr Rr
r Rr rr r Rr Rr
BMSN2202_For 2015-16_J HO 15
Mini-case 4
Why would you predict that half of the human babies born will be males and
half will be females?
BMSN2202_For 2015-16_J HO 16
Mini-case 4
BMSN2202_For 2015-16_J HO 17
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
BMSN2202_For 2015-16_J HO 18
Mini-case 5
BMSN2202_For 2015-16_J HO 19
Mini-case 6
The following is an edited version of an email Second Message from grandmother:
exchange that occurred in response to the
human genetics tutorial at the Biology Project: Thanks so much for your prompt reply. Here
is the scenario....paternity isn't going to be
First Message from a concerned established...it is going to lay...for lack of a
grandmother: better expression. My daughter is type A, my
grandson is type B+, we do not know the
I am wondering how to find out blood type of types of the two gentlemen in question...my
my grandson...my daughter is A+..father is in question is what are the types that the fathers
question...she is stressed to the max on the would have to be in order for him to be a B+?
father of this baby boy.
What is the correct answer to the
What is the most common blood type and grandmother's question, "What are the types
the most common donor and common that the fathers would have to be in order for
receiver? him (grandson) to be a B+?"
BMSN2202_For 2015-16_J HO 20
Mini-case 6
BMSN2202_For 2015-16_J HO 21
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)
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.
BMSN2202_For 2015-16_J HO 22