Tugas Menjawab Soal di Buku Campbell

(Rangkaian Mandiri 3)

− Tersedia 38 pertanyaan pada tugas kali ini

− Setiap mahasiswa menjawab 2 pertanyaan dengan ketentuan :
✓ Pertanyaan terbagi rata untuk semua anggota kelompok
✓ Mahasiwa bebas memilih kombinasi pertanyaan
✓ Dua soal pertanyaan terdiri dari 1 review question + 1 applied
question
✓ Setiap mahasiswa memiliki variasi pertanyaan yang berbeda, tidak
boleh ada variasi pertanyaan yang sama pada setiap mahasiwa
dalam satu kelompok
− Semua pertanyaan harus dijawab oleh anggota kelompok (tidak ada
pertanyaan yang tidak dijawab)
− Tugas dijawab dengan menggunakan Bahasa Indonesia
− Tugas ditulis tangan di kertas folio bergaris
− Tugas dikumpulkan paling lambat senin 12 Oktober 2020 pukul 08.00
WIB
− Setiap kelompok menyediakan satu google drive untuk mengupload
tugas mandiri dan praktikum anggota kelompoknya, membuatkan folder
per tugas dan memberikan linknya kepada dosen pembimbing

Pertanyaan yang tersedia dalam tugas ini adalah :

Review Questions :
1. What are the essential components of a chromosome? Of a
centromere?

2. Which parts of chromosome structure are probably important in an

evolutionary sense? What is the evidence for this?

3. How does the DNA sequence change with distance from the telomere?

4. How are centromeres and telomeres alike?

5. Distinguish among a euploid, aneuploid, and polyploid.

6. What happens during meiosis to produce :

a. an aneuploid?
b. a polyploid?
c. the increased risk of trisomy 21 Down syndrome in the offspring of
a woman over age 40 at the time of conception?
 d. recurrent spontaneous abortions to a couple in which the man has
apericentric inversion?
e. several children with Down syndrome in a family where one parent
is a translocation carrier?

7. A human liver has patches of cells that are octaploid — that is, they
have eight sets of chromosomes. Explain how this might arise.

8. Describe an individual with each of the following chromosome

constitutions. Mention the person’s sex and possible phenotype :
a. 47,XXX
b. 45,X
c. 47,XX, trisomy 21

9. Which chromosomal anomaly might you expect to fi nd more frequently

among the members of the National Basketball Association than in the
general population? Cite a reason for your answer.

10. About 80 percent of cases of Edward syndrome are caused by trisomy

18; 10 percent are caused by mosaic trisomy 18, and 10 percent are
attributed to translocation. Distinguish among these three chromosome
aberrations.

11. List three examples illustrating the idea that the amount of genetic
material involved in a chromosomal aberration affects the severity of the
associated phenotype.

12. List three types of chromosomal aberrations that can cause duplications
and/or deletions, and explain how they do so.

13. Distinguish among three types of translocations.

14. Why would having the same inversion on both members of a

homologous chromosome pair not lead to unbalanced gametes, as
having the inversion on only one chromosome would?

15. Define or describe the following technologies:

a. FISH
b. amniocentesis
c. chorionic villus sampling
d. fetal cell sorting

16. Why are trisomies 13 and 18 more common at birth than trisomies 5 or
16?

17. How many chromosomes would a person have who has Klinefelter
syndrome and also trisomy 21?
18. Explain why a female cannot have XXY syndrome and a male cannot
have XO syndrome.

19. List three causes of Turner syndrome.

Applied Questions

1. Researchers can create “human artificial chromosomes” to study

chromosome structure and function. They can build a chromosome from
DNA up, or by removing material from a chromosome to see how small
it can be and still function as a chromosome. Choose either approach
and discuss the structures and/or DNA sequences that must be present
for a chromosome to carry information and withstand the forces of cell
division.

2. The following is part of a chart used to provide genetic counseling on

maternal age effect on fetal chromosomes. Answer questions a–d
based on this chart.

a. The Willoughbys have a son who has trisomy 21 Down syndrome.

The mother, Suzanne, is 24 years old and pregnant. The Martinis do
not have any relatives who have Down syndrome or any other
chromosomal condition. Karen Martini is pregnant, and is 32 years
old. Who has the lower risk of having a child with Down syndrome,
Suzanne Willoughby or Karen Martini?
b. Why are the risks in the right-hand column higher than those in the
middle column?
c. Sam and Alice Dekalb receive genetic counseling because of
“advanced maternal age” — Alice is 40 years old. When
amniocentesis reveals trisomy 13, the couple is shocked, explaining
that they thought the risk of a chromosomal problem was less than 1
percent. How have they misinterpreted the statistics?
d. A 40-year-old woman wants to have children after she is 45. How
much will her risk of conceiving a child with trisomy 21 increase in
that time?
3. Amniocentesis indicates that a fetus has the chromosomal constitution
46,XX,del(5)(p15). What does this mean? What might the child’s
phenotype be?

4. What type of test could determine whether a triploid infant resulted from
a diploid oocyte fertilized by a haploid sperm, or from two sperm
fertilizing one oocyte?

5. For an exercise in a college genetics laboratory course, a healthy

student constructs a karyotype from a cell from the inside of her cheek.
She fi nds only one chromosome 3 and one chromosome 21, plus two
unusual chromosomes that do not seem to have matching partners.
a. What type of chromosomal abnormality does she have?
b. Why doesn’t she have any symptoms?
c. Would you expect any of her relatives to have any particular medical
problems? If so, which medical conditions?

6. A fetus ceases developing in the uterus. Several of its cells are

karyotyped. Approximately 75 percent of the cells are diploid, and 25
percent are tetraploid (four copies of each chromosome). What do you
think happened? When in development did it probably occur?

7. Distinguish among Down syndrome caused by aneuploidy, mosaicism,

and translocation.

8. A couple has a son diagnosed with XXY syndrome. Explain how the
son’s chromosome constitution could have arisen from either parent.

9. DiGeorge syndrome (OMIM 188400) causes abnormal parathyroid

glands, heart defects; and an underdeveloped thymus gland. About 85
percent of patients have a microdeletion of part of chromosome 22. A
girl, her mother, and a maternal aunt have very mild DiGeorge
syndrome. They all have a reciprocal translocation of chromosomes 22
and 2.
a. How can a microdeletion and a translocation cause the same
symptoms?
b. Why were the people with the translocation less severely affected
than the people with the microdeletion?
c. What other problems might arise in the family with the
translocation?

10. Refer to this table to answer these questions:

a. Which two chromosomes are out of order, and why?
b. Which chromosome has the greatest proportion of its DNA
sequence that encodes protein?
c. Which chromosome has the greatest proportion of noncoding
sequence?
 d. How much larger is the largest chromosome compared to the
smallest?

11. In polycystic kidney disease, cysts impair the organ’s function. Several
types of mutations can cause this disorder. One is a deletion in
chromosome 16p13.3. Describe where this is in the genome.

12. The second most common type of Robertsonian translocation occurs

between chromosomes 13 and 14. Describe the health problems of a
child who inherits two full copies of chromosome 13 as well as a
chromosome 14 that has some extra chromosome 13 material on it.

13. From 2 to 6 percent of people with autism have an extra chromosome

that consists of two long arms of chromosome 15. The unusual
chromosome includes two copies of the chromosome 15 centromere.
Two normal copies of the chromosome are also present. What type of
chromosome abnormality in a gamete can lead to this karyotype, which
is called isodicentric 15?

14. Fetuses with trisomy 16 account for about 10 percent of pregnancy

losses. However, babies with a partial trisomy 16 or who are mosaic for
the extra chromosome are seen.
a. Why aren’t babies seen with full trisomy 16?

b. How might a partial trisomy (which is the same as a large duplication)

No 15 dan 16 tidak dikerjakan

17. Visit the website for the Human Genome Landmarks poster. Select a
chromosome, and use Online Mendelian Inheritance in Man (OMIM) to
describe four traits or disorders associated with it. Or, consult the
website for the Human Chromosome Launchpad for information on four
genes carried on a specific chromosome.

18. The medical literature includes 18 cases of children with a syndrome

consisting of poor growth before birth, developmental delay, premature
puberty, loose joints, a large head, short stature, and small hands. In a
different syndrome, children have a small chest, ears, and facial
features as well as rib and finger defects. Children with the first condition
have both copies of the entire long arm of chromosome 14 from their
mothers, whereas children with the second condition inherit the same
chromosome part from their fathers.
a. What type of chromosomal aberration is responsible for these two
disorders?
b. Describe how each of the conditions might arise.
c. Describe how these conditions might result from a deletion
mutation.

19. Two sets of parents who have children with Down syndrome meet at a
clinic. The Phelps know that their son has trisomy 21. The Watkins have
two affected children, and Mrs. Watkins has had two spontaneous
abortions. Why should the Watkins be more concerned about future
reproductive problems than the Phelps? How are the offspring of the
two families different, even though they have the same symptoms?

20. A genome-wide scan of 291 people with mental retardation identifi es

four individuals who have a microdeletion in chromosome 17q21.3. The
children have large noses, delayed speech, and mild mental retardation.
Each had a parent with an inversion in the same part of chromosome
17.
a. Which arm of chromosome 17 is implicated in this syndrome?
b. How can an inversion in a parent’s chromosome cause a deletion
in a child’s chromosome?
c. What other type of chromosome abnormality might occur in these
children’s siblings?

21. A 38-year-old woman, Dasheen, has amniocentesis. She learns that the
fetus she is carrying has an inversion in chromosome 9 and a
duplication in hromosome 18. She and her husband Franco have their
chromosomes tested, and they learn that she has the duplication and
Franco has the inversion. Both of the parents are healthy. Should they
be concerned about the health of the fetus? Cite a reason for your
answer.