Download final examination january 2014 semester course : cell and human

FINAL EXAMINATION
JANUARY 2014 SEMESTER
COURSE
COURSE CODE
DURATION
FACULTY
PROGRAMME
LECTURER
: CELL AND HUMAN GENETICS
: MLS 1223
: 3 HOURS
: BIOMEDICAL AND HEALTH SCIENCES
: BACHELOR OF MEDICAL LABORATORY
SCIENCE (HONS)
: MR MOHD NAZIF BIN SAMAT @ DARAWI
INSTRUCTIONS TO CANDIDATES
This paper consists of three (3) sections:
Section A – 20 questions (objective questions)
Section B – 4 questions (short answer questions)
Section C – 3 questions (essay questions)
Answer all questions in Section A and B and only two (2) questions in Section C.
All answers of:
Section A must be written in OMR objective paper provided.
Section B and Section C must be written in answer booklet provided.
The answer for each question must start on a new page.
Candidates are NOT ALLOWED to bring any unauthorized items into the exam hall
except with the permission of your invigilator.
Do Not Open The Question Paper Until Instructed.
This Question Paper Consists of Ten (10) Printed Pages
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SECTION A: OBJECTIVE QUESTIONS
(20 MARKS)
Choose ONE best statement to answer the questions.
1.
Somatic cells are non-sex cells. How many chromosomes in a normal
human somatic cell?
(A)
(B)
(C)
(D)
2.
22
23
44
46
What is the difference between nucleotide and nucleoside?
(A) A nucleotide consists of a nitrogenous base. No nitrogenous base in a
nucleoside.
(B) A nucleoside consists of a 5-carbon sugar. No 5-carbon sugar in a
nucleotide.
(C) A nucleotide consists of a phosphate group. No phosphate group in a
nucleoside.
(D) A nucleoside consists of a proteosome. No proteosome in a
nucleotide.
3.
In signal transduction of a cell, _______________
(A) stimulus is considered as second messenger.
(B) at first, regulator will activate enzymes in the cell nucleus.
(C) receptor protein binds first messenger to trigger a cascade of
biochemical activity at the cell surface.
(D) enzyme catalyzes a reaction outside the cell that circularizes ATP to
cyclic adenosine diphosphate, the third messenger.
4.
A mature mRNA consists of _______________.
I.
II.
III.
IV.
methylated cap
joined exons
poly A tail
spliceosome
(A)
(B)
(C)
(D)
I and II
II and III
I, II and III
II, III and IV
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5.
Synapsis and crossing over occur in meiosis during _______________.
(A)
(B)
(C)
(D)
prophase II
metaphase I
prophase I (late)
prophase I (early)
Figure 1
6.
Figure 1 illustrates the function of some proteins in cellular adhesion in
which _______________
(A) Integrin functions to integrate leukocyte to the splinter.
(B) Selectin attaches to the leukocyte to slow it to a roll by binding to
carbohydrates.
(C) Integrin helps erythrocyte to bring enough oxygen molecules in
certain parts of the body.
(D) Selectin makes the leukocyte becomes more selective to any pathogen
that invades human body.
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7.
Which of the following statement describes the Mendel’s second law?
(A) The inheritance of characters of an organism is determined by factors
that exist in pairs.
(B) During the formation of gametes, every gamete only brings with it
one factor from the pair of factors.
(C) When two alternate forms for one factor exist in an organism, only the
dominant factor will be seen as a phenotype in the organism.
(D) In the gametes formation, each member in a pair of factors can
combine randomly with any other member from a different pair of
factors.
8.
Which of the following genetic disorder follows autosomal dominant
inheritance pattern?
(A)
(B)
(C)
(D)
9.
Cystic fibrosis
Tay-Sachs disease
Sickle-cell disease
Neurofibromatosis type 1
Which of the following statement is TRUE?
(A) Porphyria variegate is pleiotropic.
(B) In complete dominance, the heterozygous phenotype is intermediate
between that of either homozygote.
(C) Hypostatic alleles are alleles that are masking the effect while
epistatic alleles are alleles whose effect is being masked.
(D) Each offspring has a 50% probability of death because of spontaneous
abortion if both parents have heterozygous for a lethal allele for an
autosomal dominant disease.
10.
Genes that are reported to be involved in the pathogenesis of early onset
familial Alzheimer’s disease are _______________.
I.
II.
III.
IV.
Presenilin 1 gene (PSEN1)
Presenilin 2 gene (PSEN2)
Amyloid precursor protein gene (APP)
Complement component receptor 1 (CR1)
(A)
(B)
(C)
(D)
IV
I and II
I, II and III
I, II, III and IV
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Figure 2
11.
The most suitable title for Figure 2 is _______________
(A)
(B)
(C)
(D)
Inheritance of mitochondrial genes.
Albinism is an autosomal recessive disorder.
Pedigree analysis of an autosomal dominant disease.
Marriages between relatives introduce consanguinity.
Characteristics of Q gene
 No crossing over
 No histones proteins
 37 genes
Table 1
12.
Table 1 shows Q gene characteristics. Q gene is most probably
_______________.
(A)
(B)
(C)
(D)
13.
virus gene
bacterial gene
plasmodium gene
mitochondrial gene
Philadelphia translocation that reported in chronic myelogenous leukemia
_______________
(A)
(B)
(C)
(D)
also can be found in Burkitt lymphoma.
involves a genetic fusion between ABL and BCR gene.
involves a reciprocal translocation between chromosome 8 and 14.
is complex and cannot be determined using fluorescence in situ
hybridization.
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14.
Which of the following is an example of DNA sequence with palindrome?
(A)
(B)
(C)
(D)
15.
5’- GAATTC -3’
5’- ATATAC -3’
5’- TAGGTA -3’
5’- AAAAAA -3’
The Human Genome Project _______________
(A) was declared complete in April 2013.
(B) is a project of identifying and mapping selected genes that related to
cancer.
(C) involves determination of the sequence of chemical base pair which
make up human and pathogen DNA.
(D) has given a great benefit in genetic studies as the database of human
DNA sequence is available to anyone on the internet.
The specific defect is a repeat of the cytosine-cytosine-thymineguanosine (CCTG) tetranucleotide in the ZNF9 gene.
16.
The above statement refers to the feature of _______________.
(A)
(B)
(C)
(D)
17.
Friedreich ataxia
Huntington disease
Myotonic dystrophy type I
Myotonic dystrophy type II
Which of the following statement is FALSE regarding human
chromosome?
(A) Each telomere is many repeats of TTAGGG sequence.
(B) CENP-A stays with telomeres during chromosomes duplication.
(C) Euchromatin has more protein-encoding sequences compared to
heterochromatin.
(D) Euchromatin and heterochromatin were distinguished cytologically by
how intensely they stained.
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Figure 3
18.
Figure 3 explains about _______________.
(A)
(B)
(C)
(D)
19.
isochromosome
unbalance translocation
deletion and duplication
paracentric inversion and pericentric inversion
Major histocompatibility complex (MHC) genes_______________
(A)
(B)
(C)
(D)
located on q arm of chromosome.
in class III encode the human leukocyte antigens.
encode for proteins that influence about 50% of the immune system.
in class II encode proteins that are in blood plasma providing nonspecific immune functions.
 In inherited cancer, the gene involved in LiFraumeni.
 In non-inherited cancer, the gene involved in many
types of cancers.
 The protein that is encoded by the gene is involved in
the pathway to apoptosis.
20.
The above statements refer to _______________ gene.
(A)
(B)
(C)
(D)
APC
TP53
GPC5
BRCA2
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SECTION B: SHORT ANSWER QUESTIONS
(40 MARKS)
Answer ALL questions
1. Albinism is a defect of melanin production that results in little or no colour
(pigment) in the skin, hair, and eyes. The type of inheritance of this condition
is autosomal recessive inheritance. In a human population, 3 out of 30,000
individuals have this condition.
a. What is the percentage of individuals with
b.
i. Homozygous recessive
(2 Marks)
ii. Heterozygous
(2 Marks)
iii. Homozygous dominant
(2 Marks)
Make a calculation to show that this population is in Hardy-Weinberg
equilibrium?
(4 Marks)
2. a. What is the definition of pharmacogenetics and pharmacogenomics?
(4 Marks)
b. Give THREE (3) examples of drugs and their related gene involve in drug
metabolism.
(6 Marks)
3. Marriages between relatives introduce consanguinity.
a. What is consanguinity and in terms of genetics, give your opinion why
marriage between relatives is not encouraged?
(3 Marks)
b. Draw an example of pedigree to help your explanation. Label the drawing.
(7 Marks)
4. Rhesus incompatibility causes haemolytic disease of the newborn baby.
a. Explain more about this by drawing THREE (3) different pregnancy
statuses. Label the drawing.
(9 Marks)
b. Give the name of a drug or medicine that can suppress the mother's
immune system from attacking Rh-positive blood cells from fetal
circulation.
(1 Mark)
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SECTION C: ESSAY QUESTIONS
(40 MARKS)
Answer TWO (2) questions ONLY.
Question 1
There are many ways of clinical investigation for genetic disorder such as
amniocentesis, fetal cell sorting, chronic villus sampling and serum marker
testing. Choose any TWO (2) and make detail discussions.
(20 Marks)
Question 2
A mutation is a change in a DNA sequence that is present in less than 1% of
individuals in a population.
a. Describe THREE (3) causes of mutation.
(6 Marks)
b. Describe SEVEN (7) types of mutation.
(14 Marks)
Question 3
In a gene action from DNA to protein, there are several important processes
involve as shown in Figure 4. Discuss the processes in a correct sequence.
Figure 4
(20 Marks)
END OF QUESTION PAPER
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Appendix
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