BIO 59 (GENETICS)

January 9, 2023
Assignment: CHROMOSOME MUTATIONS

DIRECTION: Answer BRIEFLY yet CONCISELY.

1. (9 pts) Differentiate and illustrate examples of the following:

A. Aneuploidy and euploidy

Euploidy can be defined as the chromosome number of in organism, specifically to the exact
multiple of the basic set of chromosome sets. There can be various types of euploidy depending on the
organism. This includes haploid n (one chromosome set), diploid 2n (2 chromosome sets), triploid 3n
(3 chromosome sets), etc.

Aneuploidy on the other hand refers to any change in the number of chromosome sets of an
organism. This results to a fewer or more chromosomes than normal due to failed disjunction of
chromosomes during cell division. This is an abnormal condition and can chromosomal diseases. This
includes monosomy, trisomy, polysomy.
B. Paracentric and pericentric inversion

Paracentric inversion is a chromosomal inversion in which a chromosomal segment excluding

the centromere region, get rearranged in a reversed manner, thus occurring on only one arm of the
chromosome. In contrast to this, pericentric inversion is the rearrangement of a chromosomal segment
including its centromere. This involves and occur on both arms of the chromosome.

C. Autopolyploidy and allopolyploidy

Autopolyploidy refers to a polyploidy where the chromosome complement is consist of multiple

copies of the basic set of chromosomes of the same genome, caused by the fusion of gametes of the
same species. This polyploidy does not undergo meiosis.
Allopolyploidy refers to the type of polyploidy where the chromosome complement is consist of more
than two copies of chromosomes derived from the fusion of gametes of different species. Chromosomes
of the new species contains the combined chromosomes of the parent species.

2. A. Describe the terms amniocentesis and eugenics.

The term amniocentesis refers to the procedure where a little amount of amniotic fluid is
extracted from the sac that surrounds the fetus. The amniotic fluid contains the baby’s cells. The
treatment might be carried out to look for specific birth disorders like Tay-Sachs disease or Down
syndrome and other genetic abnormalities. It can also be used to identify fetal lung maturity, fetal
anemia, and fetal infection.

Eugenics is a term which means “good creation”. This is an idea promoted by Plato, having the
principles of selecting the population with most superior traits in the hopes of eliminating the inferior
ones. This aims to improve the genetic quality of the human population.

B. Many of the chromosomal aberrations can be detected prenatally by amniocentesis. Would you
advocate it to be compulsory for eugenic measures?

The amniocentesis test is far better than the eugenic process. Assessing the pros and cons of the
amniocentesis, I would advocate this kind of test as it imposes more benefits than risks. There may be
some dangers during the facilitation of the test but serious complications are only of rare cases. In
addition to this, early detection of the child’s condition may help in the preparation for his or her
healthcare planning.
C. If you were a genetic counselor, what will be your basis for deciding whether to recommend
therapeutic abortion to mothers carrying defective fetuses? (10 pts)

Abortion may still be a very sensitive topic especially in our country but if I were to be a genetic
counselor, the bottom line of deciding whether to advice a mother to keep her detective fetus or not lies
upon the severity if the fetus’s condition. There are cases where the condition of the fetus can be
sustained through providing healthcare plans. But then, these treatments are commonly expensive and
not everyone is capable in providing such amenity to their child, and there are also often cases in which
the fetus’ abnormality is incurable, and that is when I think I would suggest the mother to proceed with
the therapeutic abortion. It may seem unhuman to many, but then, I think it is better to give up the
fetus’s life as early as possible than to let it live in despair due to complications and aberrations his or
her condition may cause her.

3. An XYY individual appears as “normal” male. He married a sexually normal female who is trisomic
for chromosome number 21.
(15 pts)

A. Diagram all members of chromosome number 21 and sex chromosomes for each parent. Then
diagram the cross.

XYY “normal male” female trisomic for chromosome 21

Male gametes (XYY) – XY Y, YY X

Female Gametes (X + 1) – X + 1, X

There may be 4 scenarios/cross derived from the problem.

a) XY Y x X+1

X+1

XY XXY + 1

Y XY + 1
 Offspring: XX Y + 1 ( XXY sexual chromosomal aberration with trisomy for chromosome 21), XY +
1 (male with trisomy for chromosome 21)

b) YY X x X+1

X+1

YY XYY + 1

X XX + 1

Offspring: XY Y + 1 (XYY sexual chromosomal aberration with trisomy for chromosome 21), XX +
1 (female with trisomy for chromosome 21)

c) XY Y x X

XY XX Y

Y XY

Offspring: XX Y (XXY sexual chromosomal aberration), XY (normal male)

d) YY X x X

YY XY Y

X XX

Offspring: XY Y (XYY sexual chromosomal aberration), XX (normal female)

B. What kind of offspring as to sexual chromosome aberration may they have? What is the probability of
each kind?
- There can offsprings with either XXY or XYY sexual chromosomal aberration. The probability
of having such offspring is ½.

C. What is the probability that the couple will have a son with Down syndrome?
- The probability if having a son with down syndrome is 1/8.

D. What is the probability of a child with sexual and autosomal chromosomal aberration?
- The probability of having a child with both sexual and autosomal aberration is ¼.

E. What is the probability of having a normal son?

- There is 1/8 probability of having a normal son.
4. The diagrams below show homologous chromosomes with inverted segments (inversion
heterozygotes) undergoing crossing over. For each diagram, identify the type of inversion and predict
the resultant gametes. Illustrate and label the resultant gametes. (10 pts)

PARACENTRIC INVERSION WAS USED.

Resultant gametes: ABCde, fedcDEF

RESULTANT GAMETES

PERICENTRIC INVERSION WAS USED.

Resultant gametes: ABcda, FEDCbef

RESULTANT GAMETES

5. A male Drosophila from a wild-type stock is discovered to have only seven chromosomes, whereas
normally 2n=8. Close examination reveals that one member of chromosome IV (the smallest
chromosome) is attached to (translocated to) the distal end of chromosome II and is missing the
centromere, thus accounting for the reduction in chromosomes II and IV.
A. Diagram all members of chromosomes II and IV during synapsis I meiosis I. (3 pts)

B. If this male mates with a female with a normal chromosome composition who is homozygous for the
recessive chromosome IV mutation eyeless (ey), what chromosome compositions will occur in the
offspring regarding chromosomes II and IV? Show in Punnet Square. (5 pts)

EO x ee

Ee Ee

Oe Oe

D. Referring to the diagram in the solution above (B), what phenotypic ratio will result regarding the
presence of eyes, assuming all abnormal chromosome compositions survive? (5 pts)

Phenotypic Ratio: 2 will have normal eye(Ee) while the other two will be eyeless (Oe). Half population
has normal eye while other half is eyeless.

Prepared by:
DR. LIRIO GUDINA C. MANGAWIL

Professor