BIO511 2017

BIO511

GENETICS
PRACTICAL 1: Human Karyotyping Lab

ED 247/6A

GROUP MEMBERS : Siti Farah Wahida (2014773321)

Muhammad Izzul Amin Bin Ahmad Bahrin (2014507917)
Nur Imani Binti Yusoff (2014937517)
Nurul Iman Amani Bt Che Awang (2014179961)

PREPARED FOR : Puan Ernie Eileen Rizlan Ross

 BIO511 2017

QUESTIONS

Set: Normal (Picture 1)

1. How could you determine if your karyotype was male or female?

The karyotype was male as the sex chromosome consists of XY pairs indicating a male
karyotype.
2. Complete the following table:

Set: Normal (Picture 1)

Number of Chromosome: 46 (23 pairs)
Normal / Mutated

DISCUSSION

Each person normally carries one pair of sex chromosome in each cell. Males
have one X and one Y chromosome. The X and Y chromosomes have different
structures.
The X chromosome is significantly longer than the Y chromosome and contains hundreds
more genes.The X chromosome resembles a large autosomal chromosome with a long
and a short arm. The Y chromosome has one long arm and a very short second arm.
The path to maleness or femaleness originates at the moment of meiosis, when
a cell divides to produce gametes, or sex cells having half the normal number of
chromosomes. During meiosis the male XY sex-chromosome pair separates and passes
on an X or a Y to separate gametes; the result is that one-half of the gametes (sperm) that
are formed contains the X chromosome and the other half contains the Y chromosome.
The eggs fertilized by Y-bearing sperm become males (XY).
 BIO511 2017

Set: Normal (Picture 2)

QUESTIONS
1. How could you determine if your karyotype was male or female?

The karyotype was female as the sex chromosomes consists of XX pairs indicating a
female karyotype.

2. Complete the following table:

SET: NORMAL (Picture 2)

Number of chromosomes: 46 (23pairs)
What is the sex? : Female
Normal / Mutated (circle one)

DISCUSSION
The normal karyotypes for chromosome picture number 2 are a normal female. This
happened because the total number of chromosomes is 46 and has 23 pairs of chromosomes. The
normal karyotypes for female will contain X chromosomes and are denoted 46, XX. Female
karyotypes will be carrying the XX sex chromosome that will differentiate it with male
karyotypes that carries XY sex chromosome. The sex chromosome plays the big role in
determining whether the karyotype is female or male. So for this normal karyotypes chromosome
picture, it is a female karyotype because it does not carries XY sex chromosome. The karyotype
was male as the sex chromosomes consists of XY pairs indicating a male karyotype.
 BIO511 2017

SET: A (Picture 3)

1. How could you determine if your karyotype was male or female?

The karyotype was male as the sex chromosomes consists of XY pairs indicating a male
karyotype

2. Complete the following table:

SET: A (Pic 3)
Number of chromosomes: 47
What is the sex? : Male
Normal/ Mutated
Disorder: Down syndrome or Trisomy 21

DISCUSSION
A normal humans, each cell normally contains 23 pairs of chromosomes, for a total of 46
which came from both autosomes and sex chromosomes but the chromosomes for this SET A
contains 47 chromosomes which came from 22 pairs and one is triplet chromosomes. The triplet
chromosome is the chromosomes 21. For a normal person, each of the two copies of
chromosomes 21 were taken from each parent and chromosomes 21 is the smallest human
chromosome, covering about 48 million base pairs. This represents 1.5 to 2 percent of the total
DNA in cells.

The present of triplet pairs of chromosomes 21 in this set of chromosomes made it

mutated and lead to Down syndrome. Down syndrome is also known as trisomy 21. Down
syndrome typically associated with physical growth delay, characteristic facial features and mild
to moderate intellectual disabilities while the average IQ of a young adult with Down syndrome
is 50, equivalent to the mental ability of an 8- or 9-year-old child, but still this can vary widely.
 BIO511 2017

SET: B (Picture 4)

QUESTIONS

1. How could you determine if your karyotype was male or female?

The karyotype was male as the sex chromosome consists of XY pairs indicating a male
karyotype.
2. Complete the following table:

Set B: Normal (Picture 4)

Number of Chromosome: 47 (23 pairs)
Normal / Mutated
Disorder: Klinefelter syndrome

DISCUSSION

From the result it shows that the male has inherited one extra X chromosome. This
chromosome has mutation and this disease known as Klinefelter syndrome. Klinefelter
syndrome is a chromosomal condition that affects male physical and cognitive development.
Its signs and symptoms vary among affected individuals. In severe cases, they have relatively
high-pitched voices, asexual to feminine body contours as well as breast enlargement, and
comparatively little facial and body hair. Their testes and prostate gland are small. They
produce relatively small amounts of testosterone.

Affected individuals typically have small testes that do not produce as much testosterone
as usual. Testosterone is the hormone that directs male sexual development before birth and
during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast
enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological
children (infertility). Some affected individuals also have genital differences including
undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis
(hypospadias), or an unusually small penis (micropenis).
 BIO511 2017

Older children and adults with Klinefelter syndrome tend to be taller than their peers.
Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of
developing breast cancer and a chronic inflammatory disease called systemic lupus
erythematosus. Their chance of developing these disorders is similar to that of women in the
general population. Children with Klinefelter syndrome may have learning disabilities and
delayed speech and language development. They tend to be quiet, sensitive, and unassertive.
 BIO511 2017

SET: C (Picture 5)

QUESTIONS
1. How could you determine if your karyotype was male or female?

The karyotype was female as the sex chromosomes consists of XX pairs indicating a
female karyotype

2. Complete the following table:

SET: C (Picture 5)
Number of chromosomes: 47
What is the sex? : Female
Normal / Mutated (circle one)

Disorder: Edwards Syndrome or Trisomy 18

DISCUSSION

SET C contains 47 chromosomes which indicate the occurrence of mutation which is

named as Trisomy 18 or Edwards Syndrome. It is caused by an error in cell division, known
as meiotic disjunction. The set has an extra chromosome, which is three copies of chromosomes
18 in the cell body instead of the usual two copies. The extra genetic material disrupts the normal
development of cell, causing the presence of of features of Trisomy 18.
The development of the mutation features of Trisomy 18 or Edwards Syndrome may range from
normal to severely affected. There are many types of abnormalities may be experienced by the
patient such as slow growth before birth, a low birth weight, a small, abnormally shaped head; a
small jaw and mouth; and clenched fists with overlapping fingers. Many individuals with
Trisomy 18 die before birth or within their first month because of several life threatening
symptoms during the early stage of life. If the individuals live longer than that, usually they have
severe intellectual disabilities and developmental delays.
 BIO511 2017

SET: D (Picture 6)

QUESTIONS
1. How could you determine if your karyotype was male or female?
The karyotype was female as the sex chromosomes consists of XX pairs indicating a
female karyotype

2. Complete the following table:

SET: D (Picture 6)
Number of chromosomes: 47
What is the sex? : Male
Normal / Mutated (circle one)

Disorder: Patau Syndrome or Trisomy 13

DISCUSSION

SET D contains 47 chromosomes with extra chromosomes in the chromosomes 13. The
disorder is referred to Patau Syndrome or Trisomy 13. It is considered as a rare disease. Most
cases of trisomy 13 are not inherited and result from random events during the formation of eggs
and sperm in healthy parents which are referred as nondisjunction.
Individual with Trisomy 13 may develop different physical and mental disorders such as
developmental delays, profound mental retardation, unusually small eyes (microphthalmia), an
abnormal groove in the upper lip (cleft lip), incomplete closure of the roof of the mouth (cleft
palate), undescended testes (cryptorchidism) in affected males, and extra (supernumerary)
fingers and toes (polydactyly). Many of the affected babies die in early stage of life due to many
life threatening symptoms
 BIO511 2017

CONCLUSION

Karyotype analysis is referred to a study of whole sets of chromosome by referring to its

standard karyogram. The analysis is important for identification purpose and detection of
abnormalities. Chromosomes consist of 23 pairs which each pair has their own function bringing
the genetic material to the next generation. The pair of chromosomes is divided into two types
which were autosomes and sex chromosomes. The autosomes chromosomes are labelled with
number 1 to 22 and sex chromosomes are labelled with X and Y. The sex chromosomes will
determine the gender of the certain organism. The XX will represent as female while XY will
represent as male. In this experiments, we were more convinced that chromosomes do bring
genetic material to the next generation and it will become mutated if the number of the pairs of
chromosomes or the number of chromosomes itself being altered like in the Set A, B C, and D.
For set A, it is mutated when the number of chromosomes 21 had being triplet which lead to
Down syndrome, set B had mutation in the sex chromosome pair which lead to Klinefelter
syndrome, Set C had an extra chromosome in the chromosome 18 which is known as Edwards
Syndrome while Set D had Patau Syndrome due to additional chromosomes in chromosome 13.
The advancement in genetic related investigation is important as it provide more opportunities in
many aspects such as technology, medical, food resources and others.
 BIO511 2017

REFERENCES

Down Syndrome: Trisomy 21. (n.d.). Retrieved from http://americanpregnancy.org/birth-

defects/down-syndrome/ on 3 October 2017.

Karyotype Analysis. (2017). Retrieved from

http://www.myhealth.gov.my/en/karyotype- analysis/ on 4 October 2017.

Neil, D, O. (2013). Sex Chromosome Abnormalities. Retrieved from

https://www2.palomar.edu/anthro/abnormal/abnormal_5.htm on 4 October 2017.

Down Syndrome (Trisomy 21). (n.d.) Retrieved from

http://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy- 21-90-
P02356 on 3 October 2017

Trisomy 13 Retrieved from https://rarediseases.info.nih.gov/diseases/7341/trisomy-13

on 4 October 2017.

Trisomy 18. (2017). Retrieved from https://ghr.nlm.nih.gov/condition/trisomy-18

on 4 October 2017.