Practical 1 Genetics

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Practical Genetic

PRACTICAL REPORT

SEMESTER/SESSION : SEMESTER 1 – 2021/2022

PRACTICAL NUMBER :1

TITLE : EVALUATION OF HUMAN GENETIC


TRAITS FOR DOMINANT AND
RECESSIVE CHARACTERISTICS

DATE OF SUBMISSION : 14 NOVEMBER 2021

NAME MATRIX NO. SIGNATURE


IZZA ZULAIKHA BINTI AMBRAN BS21110083
NURSYAHIRAH BINTI IBRAHIM BS21110109
KASMIA BINTI MOHD AMIN BS21110394
NUR ZAHIRAH BINTI MOHD SAHRIL BS21110112
MOHAMAD EHTIZAM BIN LORDY BS21110087
1.0 INTRODUCTION
Genetics is the field of biology that studies DNA of organisms, how it appears as
genes, and how those genes are passed down through generations. In both sexual and
asexual reproduction, genes are handed down to children, and natural selection can
accumulate changes among individuals on a group level over time, a process known as
evolution (Greenwood, 2021). These characteristics are expressed differently in various
people due to varied gene combinations and environmental conditions, making each
individual unique.

A genotype is the set of genes that make up an individual. The phrase can also
apply to the two alleles that are inherited for a certain gene. When the information
encoded in the genes' DNA is used to generate protein and RNA molecules, the
genotype is expressed. The expression of the genotype contributes to the phenotype,
or observable traits, of a person (Christopher, n.d.). Many genes are presented twice
since humans have a homologous pair of each chromosome, generally one from each
parent, maternal and paternal.

Each time a cell multiplies, this initial genetic material is duplicated, ensuring that
all cells have the identical DNA. The division process of the cell called mitosis. Genes
contain the instructions for the cell to create proteins, which result in distinct physical
characteristics. Alleles are variations in the sequence of these genes; one allele may be
dominant while the other is recessive, and different alleles may interact in a number of
ways depending on which chromosome they are on, resulting in a broad range of
phenotypic consequences (Greenwood, 2021).

2.0 OBJECTIVES
1. To examine a few characters that is known to be controlled by your genes.
2. To identify and characterize the various visible traits in the human body.
3.0 MATERIAL AND METHOD
1. The following ranges of characters in the human body were studied:

Dominant Recessive
No Character
Allele Phenotype Allele Phenotype
1 Earlobe attachment E Free earlobes e Attached earlobes
2 Bent little finger B Bent little finger b Straight little finger
3 Mid-digital hair M Mid digital hair m No mid-digital hair
4 Tongue roller T Can roll tongue t Can’t roll tongue
5 Widow’s peak W Has peak w Lacks peak
6 Hitchhiker’s thumb H Hitchhiker’s thumb h Normal thumb
7 Dimples D Dimple present d No dimples
Short hallux (big
8 A Shorter hallux a Longer hallux
toe)
9 Eye colour B Eyes not blue b Blue eyes
10 Handedness R Right-handed r Left-handed
Hand clasping
11 L Left thumb on top l Right thumb on top
(Interlaced fingers)
12 Forelock F White forelock f No white forelock
13 Darwin’s tubercle N Has tubercle n No tubercle
14 Chin Cleft C Cleft chin c Smooth chin
15 Achoo syndrome S Sneezing s Not sneezing

4.0 RESULT

Table 1: The number of students in the class having dominant and recessive
phenotype in each characteristic

No Character Total number in class having particular phenotype


Dominant Recessive
Genotype No % Genotype No %
1 Earlobe EE/Ee 48 67.61 ee 23 32.39
attachment
2 Bent little finger BB/Bb 25 35.21 bb 46 64.79
3 Mid-digital hair MM/Mm 38 53.52 mm 33 46.48
4 Tongue roller TT/Tt 54 76.06 tt 17 23.94
5 Widow’s peak WW/Ww 13 18.31 ww 58 81.69
6 Hitchhiker’s HH/Hh 28 39.44 hh 43 60.56
thumb
7 Dimples DD/Dd 23 32.39 dd 48 67.61
8 Short hallux AA/Aa 38 53.52 aa 33 46.48
(Big toe)
9 Eye colour BB/Bb 71 100.00 bb 0 0.00
10 Handedness RR/Rr 64 90.14 rr 7 9.86
11 Hand clasping LL/Ll 47 66.20 ll 24 33.8
12 Forelock FF/Ff 1 1.41 ff 70 98.59
13 Darwin’s NN/Nn 35 49.30 nn 36 50.70
tubercle
14 Chin cleft CC/Cc 9 12.68 cc 62 87.32
15 Achoo SS/Ss 9 12.68 ss 62 87.32
syndrome

Table 1 shows the number of students in the class that having dominant and
recessive phenotype for each of the characteristics. Students that have free earlobes
are higher than students with attached earlobes. The number of students that can bent
little finger are 25 while students that have straight little finger are 46. Next, number of
students with mid-digital hair and shorter hallux which are dominant, are both 38
students while others with no mid-digital hair and longer hallux which are recessive, are
both 33 students. The number of students that can roll their tongue are higher than
student who cannot roll their tongue. More, there are only 28 students who have
Hitchhiker’s thumb while the other 43 students have normal thumb. The number of
students who has Darwin’s tubercle and no tubercle are 35 and 36 respectively.
Students who have dimple are minority number in the class where there are only 23
students, while 48 students have no dimples. There are no students with blue eyes in
the class. For number of students that have white forelock is only one person while the
other 70 students have no white forelock. Furthermore, majority number of students in
the class are right-handed. For students who has Widow’s peak are 13 students and
students with lack peak are 58 students. Next character is hand clasping (interlaced
fingers), there are 47 students who their left thumb on top and 24 students for right
thumb on top. Finally, for students with dominant phenotype in having cleft chin and
sneezing achoo syndrome are same where both have 9 students, whereas for students
with recessive phenotype in having smooth chin and not sneezing are also same with
both having 62 students.

Graph 1: The percentage of students in the class having dominant and recessive
phenotype in each characteristic

Graph 1 shows the percentage of students with dominant and recessive


phenotype based on each characteristic in the class. There are eight characteristics that
have higher percentage of recessive phenotype compared than the percentage of
dominant phenotype. The characteristics are straight little finger, lack of Widow’s peak,
has Hitchhiker’s thumb, has no dimples, has no white forelock, no tubercle, has smooth
chin and not sneezing (no achoo syndrome) with percentage 64.79%, 81.69%,
60.56%, 67.61%, 98.59%, 50.7%, 87.32% and 87.32% respectively. The other seven
characteristics are higher in percentage of dominant phenotype. The students in the
class have free earlobes, mid digital hair, has the ability to roll their tongue, has shorter
hallux, do not have blue eyes, right-handed, and have interlaced fingers where the left
thumb on top. Majority number of students in the class are having recessive genotype
than dominant genotype.

5.0 DISCUSSION
5.1 Earlobe attachment

Figure 1: Unattached earlobes (left) and attached earlobes (right)


(Khetrapal, 2021)

An earlobe is made up of connective tissues, areola tissues, and fat cells mixed
together. Earlobes have a healthy blood supply, which helps them stay warm and in
balance. Free earlobes and connected earlobes are the two main forms of earlobes
found in humans (Khetrapal, 2021). There are some people have unattached earlobes,
which curve up between the lowest point of the earlobe and the point where the ear
joins the head, as illustrated in the left of the image above. Other people have attached
earlobes, which merge in with the side of the head, as depicted in the right of the
image above (McDonald, 2011). Based on the result, 48 students which 67.61% of the
class have unattached earlobes while 23 students which is 32.39% of the class have
attached earlobes. Unattached earlobes were found to be dominant over attached
earlobes in one of the first earlobes studies (Wu, 2010). Unattached earlobes occur as a
result of a dominant allele's effect. The offspring will be born with unattached earlobes
if both parents' genes exhibit the dominant allele or one of the parents express
dominant allele and the other parent express recessive allele. If a baby with attached
earlobes is born to parents with unattached earlobes, both parents will have a copy of
the dominant and recessive gene.

5.2 Bent little finger

Figure 2: straight little finger (left) and bent little finger (right).
(Bio- Packet- Evolution, n.d.)

According to mythology, little fingers can be split into two categories which are
bent and straight as shown in the picture above. The trait is controlled by a single gene
with two alleles, with the dominant allele for B and the recessive allele for b. A
dominant allele results in the end joint of the little finger of each hand bending inward
(McDonald, 2011). Straight little fingers are a result of the recessive genotype. Based
on the researchers, only four patients out of a total of 4,304 were found to have bent
little fingers (Marden et al., 1964). Based on the result, there are 25 students (35.21%)
in the class have bent little finger while 46 students (64.79%) in the class have straight
little finger. People may inherit the dominant allele (B) that encodes for bent little finger
and the recessive allele (b) that encodes for straight little finger. An individual inherits
one set of genes from their mother and another set from their father, forming a
complete set of alleles, whether BB (homozygous dominant), Bb (heterozygous
dominant) or bb (recessive).

5.3 Mid-digital hair


Some people have hair on the middle segment of one or more fingers, whereas
others does not have any hair on the middle segment of their fingers. If a person has
any hair on their finger, they have the dominant phenotype. Absence of hair in the
segment finger is a recessive trait (10 Human Genetic Traits of Simple Inheritance:
Which Do You Have? - Page 2, 2017). In 1921, Danforth was the first to analyse the
genetic origin of mid-digital hair. Unfortunately, no N x N matings were found in his
sample of 80 families. He came to the conclusion that his data pointed to H being
dominant, but that there was evidence that multiple genes or environmental factors
influenced the feature (McDonald, 2011). Based on the result, 53.52% individuals have
mid-digital hair (MM or Mm) while 46.48% individuals do not have mid-digital hair
(mm). Mid-digital hair may result from acquiring two dominant copies, or alleles, of the
gene (MM) or only one dominant allele and the other one is recessive allele (Mm)
(Starr, 2004). Two recessive variants of the gene are found in people who lack hair in
the middle regions of their fingers. The trait for mid-digital hair was passed on from
both parents to the child. The condition would not occur if both parents expressed
recessive alleles. People with the recessive gene (m) for this condition are called
carriers.

5.4 Tongue roller


The ability to roll the tongue upwards into a tube is known as tongue rolling. The
muscles of the tongue enable some people to mould their tongues into certain shapes
(Hammond, 2018). The ability to roll the tongue into a tube shape is frequently
regarded as a dominant trait inherited through Mendelian inheritance. It is obvious that
tongue rolling is not a simple genetic trait and show that it is influenced by both
heredity and environmental factors. Regardless, tongue rolling is arguably the most
common classroom example of a simple human genetic feature (McDonald, 2011).
Based on the result, there are 54 people (76.06%) in the class have the ability to roll
their tongue while 17 peoples (23.94%) in the class cannot roll their tongue. Carrier of
recessive allele (t) condition among parents causes a condition where each parent has
one recessive gene and one dominant gene that gives the potential to pass the
recessive trait on to the child. Tongue-rolling was a Mendelian trait, which meant that it
was inherited from one of your parents rather than a mix of your parents' genes
(Hammond, 2018).

5.5 Widow’s peak


A person has a widow's peak hairline if that person’s hairline forms a downward
V-shape in the centre of your forehead. It has a low point in the middle and is higher
on the sides (Pietrangelo, 2019). Widow's peak appears to be linked to a number of
hereditary disorders include, Aarskog syndrome, Donnai-Barrow syndrome, Frontonasal
dysplasia and Opitz G/BBB syndrome. Based on the result, only 13 people (18.31%) in
the class have widow’s peak and the rest of the class which 58 students (81.69%) does
not have inherit widow’s peak. An individual inherits one set of genes from their mother
and another set from their father, forming a complete set of alleles, whether WW which
is homozygous dominant, Ww which is heterozygous dominant or ww, recessive. The W
gene indicates that widow’s peak is a dominant trait. Meanwhile, a person who does not
have widow’s peak is having recessive alleles (ww). There is a greater likelihood that
the w gene will occur as part of a person's genetic heritage.
5.6 Hitchhiker’s thumb

Figure 3: normal straight thumb (left) and hitchhiker’s thumb (right)


(Whelan, 2019)

Hitchhiker’s thumb describes a thumb that is hypermobile, or very flexible, and


can bend backwards in excess of its normal range as shown in Figure 3. Hitchhiker’s
thumb doesn’t result in any complications or health-related issues as it is usually not
painful, and it usually does not affect the ability to use hands (Whelan, 2019). There
are 22 human autosomes, each containing genes responsible for autosomal traits. The
two alleles in a single autosomal gene determine whether the individual have
hitchhiker's thumb or not (Mendelian Inheritance, 2021). Based on the result, 43
persons (60.56%) in a class have hitchhiker’s thumb while the rest have normal
thumbs. Hitchhiker's thumb may result from acquiring two recessive copies, or alleles,
of the gene (HH or Hh) that determines the straightness of the thumb. The trait for
hitchhiker's thumb was passed on from both parents to the child. The condition would
not occur if instead one parent inherited the dominant gene (H) for straight thumb and
the other inherited the recessive gene (h) for hitchhiker's thumb. People with the
recessive gene (h) for this condition are called carriers. Having a child with another
carrier of a recessive gene would enable that child to inherit that trait (Whelan, 2019).

5.7 Dimples
The majority of researchers consider dimples a dominant genetic trait, meaning
that one copy of the altered gene in each cell is sufficient to cause dimples
(Wiedemann, 1990). The most prevalent facial feature is dimples, which are a dominant
trait, that is inherited from a single gene (Kosif, 2015). The analysis shows that 32.39%
of students in 71 students of a class have dimple. Dimple-prone people may inherit the
dominant allele (D) that encodes for dimples and the recessive allele (d) that encodes
for smooth skin or no dimples or inherit both dominant allele (D) from both parents. An
individual inherits one set of genes from their mother and another set from their father,
forming a complete set of alleles, whether DD (homozygous dominant), Dd
(heterozygous dominant) or dd (recessive). The chances of their offspring inheriting the
same dominant trait (dimples) are very high if both parents display the same
characteristic (Schulman, 2019). A child will not have dimples if neither parent has
them, unless a spontaneous mutation occurs. A child who inherits the dimple gene from
one or both of the parents has a 25%-50% chance of inheriting the gene. Both parents
who have dimples have a 50%-100% chance of passing that gene onto the child,
depending on how the dimple genes were inherited (Kosif, 2015).

5.8 Short hallux

Figure 4: short hallux (morton’s toe)


(Hecht, 2019)

In the same way as other characteristics, the factor for relatively long hallux is
recessive from the one for relatively long second toe (Kaplan & Powell, 1964). Although
Morton's toes are genetically linked, their inheritance does not conform to the simple
dominant-recessive model (Aigbogun et al., 2019). Based on the result, 46.48%
individuals have longer hallux (aa) while 53.52% individuals have shorter hallux (Aa or
AA). Carrier of autosomal recessive allele (a) condition among parents causes a
condition where each parent has one recessive gene and one dominant gene that gives
the potential to pass the recessive trait on to the child. Genetic traits or conditions can
be passed down from parent to child through autosomal recessive inheritance, where a
child inherits one copy of each mutated gene from each parent. Short hallux makes it
obvious that the individual has a longer second toe. This condition is known as morton’s
toe as shown in Figure 4 The length of the big toe and the length of the second toe
are determined genetically but may be influenced by more than one gene or by a
combination of genetics and environment.

5.9 Eye colour


Depending on the parent's genetic makeup, a child's iris has a different amount
of pigment, or melanin. Human cells contain 23 pairs of chromosomes, and
chromosome 15 is likely to contain genes responsible for producing proteins which play
a significant role in eye color selection (Is Eye Colour Genetic, 2021). The eyes appear
blue when there are minimal levels of brown melanin. Nevertheless, a genetic variation
can influence a child's eye color. Each individual's genetic makeup determines how
much melanin is in the eye. Melanin is found on the back layer of the iris and some on
the front layer, which absorbs more light and gives the iris a brown appearance. A lack
of melanin on the iris's front layer scatters light, making blue light reflect more and
making the eyes appear blue (Is Eye Colour Genetic, 2021). Class analysis shows that
nobody has blue eyes colour which means all of the individual have high level of
melanin in the eyes that gives brown or likely dark brown colour to the eyes. Dark
brown eyes are dominant in humans (Eiberg & Mohr, 1996). Blue eyes are inherited
similarly to recessive (bb) or polygenic traits, which means that the traits are affected
by the interactions of several genes (Grant & Lauderdale, 2002).
5.10 Handedness
Result shows only 9.86% individuals of a class are left-handed, with recessive
genotype (rr). The R gene indicates that right-handedness is a dominant trait. There is
a greater likelihood that the R gene will occur as part of a person's genetic heritage. In
the gene pool, a recessive gene is less likely to occur, but it is determined randomly
(Coren, 1995). An individual with recessive traits (rr) has a 50% chance of being left-
handed or right-handed. A person who inherited a recessive trait can be influenced by
external factors such as culture and society, resulting in the presence of left-handed
and right-handed individuals, explaining the presence of the left-handed child of both
right-handed parents. A genetic locus that determines hand preference contains alleles
from both parents, and the various possible genetic combinations are “RR” individuals
who are strongly right-handed, “Rr” individuals who are mainly right-handed, and “rr”
individuals who are either right-handed or left-handed (What causes some people to be
left-handed, and why are fewer people left-handed than right-handed?, 2004).

5.11 Hand clasping

Figure 5: left thumb on top (left) and right thumb on top (right)
(Syrovatkina, 2019)

The position of the hand clasping whether the left thumb on top (L) or right
thumb on the top (l) does not relate with the handedness or major sexual dimorphism
(Lutz, 1908). Based on the result, there are 47 people, who is equal to 66.20% in the
class, who put their left thumb on top while the others put their right thumb on top.
Right thumb on top may result from acquiring two recessive copies, or alleles of the
genes (ll) that determine the position of the thumb. The trait of the hand clasping was
inherited from both parents to their children. The mating of both left thumb on top (L x
L) produces more left thumb offspring than the mating of both right thumb on top (l x
l). However, over a third of the children of l x l matings are L (Reiss, 1999). This
happens because whether both parents may not have the dominant genotype, (LL or
Ll), their children might have the dominant genotype. This kind of condition might occur
because the dominant allele (L) is over the recessive allele (l).

5.12 Forelock
Forelock is an autosomal dominant genetic disorder with the majority of those
affected having a white patch of hair near the forehead. Forelock may be caused by
genetic mutations that affect melanin production. Forelock is an autosomal dominant
genetic disorder, which means that 50 percent of those affected by forelock will pass
the condition on to their offspring (Smith, 2018). Based on the result, only 1 person
(1.41%) has a forelock while the other 70 people (98.59%) do not have a forelock.
Forelock is an autosomal dominant genetic. If the mother or father has the dominant
allele (F), they children will surely inherit the forelock trait.

5.13 Darwin’s tubercle


Darwin’s tubercle is a congenital ear condition which often presents as a
thickening on the helix at the junction of the upper and middle thirds (Darwin’s tubercle
- General Practice Notebook, 2018). The dominant allele of Darwin’s tubercle is N while
the recessive allele is n. Rubio et al. (2015) stated that Darwin’s tubercle does not link
to one’s sex. The gene for Darwin's tubercle was previously assumed to be inherited in
an autosomal dominant manner with imperfect penetrance, meaning that people who
have the allele will not always have the phenotype (Spinney, 2008). Based on the
result, the total of 35 people (49.30%) has Darwin’s tubercle while the rest does not
have Darwin’s tubercle. The result contrasts with the theory that Darwin’s tubercle is
the dominant gene. There are several reasons for this difference. This may be due to
the smaller people participated for the data. Therefore, the more people participate in
the data, it will clearly show that Darwin’s tubercle is a dominant gene.

5.14 Chin cleft

Figure 6: Cleft chin


(Dorman, 2007)

Gene for cleft chin is C and the gene for smooth chin is c. Because cleft chin is a
dominant trait, possessing the dominant allele from either one parent (Cc) or both
parents (CC) will always result in the phenotype associated with the dominant allele
(Pelz, n.d.). Based on the result, there are 12.68% people with a cleft chin while the
other 87.32% have a smooth chin. It clearly shows that the data was contrary to the
theory that cleft chin is dominant over smooth chin. It is equally possible for someone
with a cleft chin to have two dominant alleles or one dominant allele and one recessive
allele. Each of the children will inherit a dominant phenotype if both copies of the gene
are dominant. They will very certainly have cleft chins. If a person has one dominant
cleft gene and one recessive cleft gene, their children will have an equal chance of
having a cleft chin or a smooth chin. This implies that each of the offspring has a 50%
chance of developing a cleft chin. If a recessive gene is passed down from a mother or
father, the form of their children's chin is determined by which genes the other spouse
possesses. If the child gets another recessive gene, their chin will most likely be smooth
and while if the child gets a dominant gene, they will most likely have a cleft chin or
smooth chin (Dorman, 2007).

5.15 Achoo syndrome


Uncontrollable sneezing is a symptom of Autosomal Dominant Compelling Helio-
Ophthalmic Outburst (ACHOO) Syndrome, which is caused by abrupt exposure to bright
light, usually severe sunlight. This type of sneezing is also known as photic sneezing.
This reflex seems to be caused by a change in light intensity rather than by a specific
wavelength of light (Breitenbach et al., 1993). Sneezing is normally caused by coming
into contact with infectious agents or inhaling irritants, however the source of photic
sneezing is unknown. It could be due to an over-excitability of the visual cortex in
reaction to light, causing secondary somatosensory areas to become more active (Pratt
et al., 2012). ACHOO syndrome is inherited in an autosomal dominant manner which
affects both males and females (Forrester, 1985). As such, if one parent is affected,
their child has a 50% chance of inheriting the syndrome. From the result, only 9 people
(12.68%) have the syndrome while 62 people (87.32%) do not have it. Carrier of
autosomal dominant allele (S) condition among parents causes a condition where each
parent has one dominant gene and one recessive gene that gives the potential to pass
the dominant trait on to any of the child. Genetic traits or conditions can be passed
down from parent to child through autosomal dominant inheritance, where a child
inherits one copy of each mutated gene from each parent.

6.0 CONCLUSION
Genetics is the field of biology that studies DNA of organisms, how it appears as
genes, and how those genes are passed down through generations. Genes contain the
instructions for the cell to create proteins, which result in distinct physical
characteristics and different alleles may interact in several ways depending on which
chromosome they are on, resulting in a broad range of phenotypic consequences. There
are eight characteristics that have higher percentage of recessive phenotype which are
straight little finger, lack of Widow’s peak, has Hitchhiker’s thumb, has no dimples, has
no white forelock, no tubercle, has smooth chin and not sneezing (no achoo syndrome).
The other seven characteristics are higher in percentage of dominant phenotype which
had free earlobes, mid digital hair, can roll their tongue, has shorter hallux, do not have
blue eyes, right-handed, and have interlaced fingers where the left thumb on top.
Majority number of students in the class are having recessive genotype than dominant
genotype.

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