INTRODUCTION

Thank God we pray to the presence of Allah SWT over the abundance of His grace and
guidance I can finish a paper on "Diseases Linked to Hereditary Factors". This paper is prepared
to fulfill the Biology task. The more specific purpose of writing this paper is to increase the
knowledge of what disease is decreasing and more familiar with various diseases related to
heredity, which I present based on various sources of information, references, and news.
I would like to express my gratitude to Master for giving me the assignment to write this
paper, as well as to my friends who have also reminded and assisted in the assignment either
directly or indirectly
In the preparation of this paper, not a few of the obstacles that writers face. But I realize
that the fluency in the preparation of this paper is no other thanks to the help, encouragement,
and guidance of parents, so the constraints that the writer faced resolved.
Hopefully this paper can provide a wider insight and become a contribution of thought to
the readers, especially the students POLTEKKES KEMENKES ACEH. I realize that this paper
is still many shortcomings and far from perfect. For that, constructive suggestions and criticisms
are very I hope

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 TABLE OF CONTENTS
COVER
INTRODUCTION........................................................................................................................
TABLE OF CONTENTS...............................................................................................................
CHAPTER I
INTRODUCTION...............................................................................................................
A. Background Problem...............................................................................................................
B. Problem Formulation...............................................................................................................
C. Purpose of Writing...............................................................................................................
CHAPTER II
DISCUSSION...............................................................................................................
A. Understanding...............................................................................................................
B. Abnormalities that adhere to the body's chromosome
(autosomes)...............................................................................................................
C. Abnormalities that adhere to the sex chromosome
(gonosome)...............................................................................................................
D. Abnormalities on the number of
chromosomes...............................................................................................................
CHAPTER III CLOSING...............................................................................................................
A. Conclusion...............................................................................................................
B. Suggestions...............................................................................................................

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 CHAPTER I
INTRODUCTION

A. Background Problem
Genetics is a field of science that studies inheritance and inherited variations. The theory
of inheritance of traits or commonly called the law of heradity was first determined by Gregor
JohannMendel. He argues that attributes can be derived from generations of generations through
determinants. Bendel discovers the basic principle of inheritance by culturing the garden elder in
a carefully designed experiment.Mendel developed the theory of inheritance several decades
before chromosomes were seen with a microscope and an important value chromosome
understood, Since then Mendel's theory has not been recognized and only recognized when he
died along with the development of the era. (Fathurrahman, 2013)

B. Problem Formulation
1. What is the definition of the disease decreasing?
2. What are the diseases associated with heredity?

C. Purpose of Writing
1. To know the various diseases associated with hereditary factors

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 CHAPTER II
DISCUSSION
A. Understanding
Genetic diseases or genetic disorders are a condition caused by abnormalities by one or
more genes that cause a clinical phenotype condition. The human traits are descended on the
offspring following the pattern of inheritance of certain properties. Inherited properties are
harmful and some are not harmful (normal). The descending properties to be addressed are
defects and congenital diseases.
Phenomenon of physical abnormalities in the form of defects or congenital diseases in
humans the longer the more commonly encountered. This disease is not caused by germ
infections, but inherited from parents through genes. This genetic disease is not contagious, and
can be avoided.
Generally, genetic diseases are carried by recessive genes. Thus, the gene will appear as a
disease or defect if in a homozygous recessive state. For the heterozygous state of the gene, the
individual concerned does not present any abnormality or disease. Such individuals are said to be
carriers of a nature (carrier). Individuals who are carrier in spite of normal phenotypes can inherit
negative traits to the next generation.
Deformed congenital abnormalities can be derived through the sex chromosomes or
chromosomes of the body. The congenital defects linked to the chromosome of the body are
recessive and some are dominant. The recessive includes albino, bald, fibrosis cysts,
phenylketonuria, Tay-Sachs, schizophrenia, sickle cell anemia, and thalassemia. The dominant
include sindactili abnormalities, polidaktili, brakidaktili, hypertension, and Huntington. The
congenital defect linked to the genital chromosome is usually recessive. Examples are color
blindness and hemophilia.

(Riska Yuniar, 2013)

Disabilities and declining diseases in humans have the following characteristics:

1. It is generally incurable
2. Controlled by genes, so it is not contagious
3. Usually will appear in a homozygous recessive state
4. Individuals in a heterozygous state are generally not abnormal but carrier
5. Can be cultivated to avoid.

(Riska Yuniar, 2013)

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B. Abnormalities That Adhere to The Body's Chromosome (Autosomes)
1. Albino
Patients with albino is characterized by an abnormal pigmentation process in the skin and
other body parts. Albino sufferers are easily dazzled, because their eyes are very sensitive to rays
that have a high intensity, such as sunlight. In addition, albino sufferers also have weakness in
the eye nerve tissue compared with normal people to focus light. Ability to focus rays into the
eyeball approximately 60%. The eyes also look red because the veins are clear.
Patients with albino who live in cold climates are not too problematic, but if living in a
tropical climate is very likely to be affected by a dangerous skin disorder. In addition to the
disturbing physical condition, albino sufferers also experience mental burden in their daily lives.
If the parent is an albino sufferer, then certainly will give birth to children who are albino.
However, it is possible that both parents whose normal phenotype gave birth to an albino child.
Such cases can occur if both parents have a heterozygous (carrier) genotype. Parents who carry
the nature of albino, possibly 25% produce offspring (F1) who are albino sufferers. How can this
happen??
Consider the following crossover diagram.
If genes:
P = Normal
p = Albino
P : Pp >< Pp
Gamet : P And p P And p
F1 : PP, Pp, Pp And pp
Normal (75%) And albino (25%)
Normal (75%) And albino (25%)
The albino sufferer can also be born by one normal parent and the other an albino:
P: Pp pp
(normal)> <(albino)
Gamete: P and p p
F1: Pp and pp
Normal (50%) and albino (50%)
To find out whether someone is normal or normal carriers of albino properties, physically it is
not easy. The only way is to use the genealogy map.
(Riska Yuniar, 2013).

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2. Diabetes Mellitus
Dabetets mellitus or diabetes, known as a disease caused by chronic disorders, especially in the
metabolism system of carbohydrates, fats, and also proteins in the body. Metabolic disorders are
caused by a lack of production of insulin hormone, which dipeilukan in the process of converting
sugar into energy and fat synthesis. (Riska Yuniar, 2013)

Diabetes mellitus is passed down by the mother to her child, so not by the father to her son who
is controlled by recessive homozygous. DM usually attacks in the elderly (> 40 yrs), but can also
arise at an early age. Basically, a child born from a mother who has DM, then she has a DM
talent. However, DM talent may not appear when we do early prevention (such as regular
exercise, consuming enough fiber, reducing the consumption of fat and sugar, etc.). Normal
people (not having DM talent), but have an unhealthy lifestyle, susceptible to this DM disease
(such as eating lots of sugar and fat, never exercise, obesity, etc.). So the important thing is to
maintain our lifestyle. (Riska Yuniar, 2013)

Consider the following crossover diagram.

If the genes M = normal
m = Diabetes Mellitus
P: Mn> <Mn

Gamete: M and n M and n

F1: MM, Mn, Mn and nn

Normal (75%) and DM (25%)

Diabetics can also be born by one normal parent and the other suffer DM, here parents who
suffer from DM is a mother:

P: Mn nn
(normal)> <(DM)
Gamete: M and n n
F1: Mn and nn
Normal (50%) and DM (50%)
(Riska Yuniar, 2013)

3. Mental Disorders
Mental disorders are caused due to neurological disorders. The disease is caused by the level of
phenyl pyruvic acid in the blood is too high. These mental disorders are controlled by genes that
regulate the formation of enzyme proteins. Patients have a pair of alleles of homozygous genes
that are inherited by both heterozygous parents whose appearance is normal.
(Riska Yuniar, 2013)

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4. Sickle Cell anemia (sickle cell anemia)
That is a less severe blood disease because red blood cells are crescent-shaped so that the
ability of blood to bind and transport oxygen is reduced. The disease was found in Central
Africa, which was malaria in 1940 by Linus Pauling.
(Riska Yuniar, 2013)

This disorder is caused by the dominant homozygous gene.

Genotipe Fenotipe Information

SS Sickle cell anemia Diet before adulthood
Ss Carrier sickle cell anemia. Does not suffer from anemia
Ss Normal. Healthy

In patients with sickle cell anemia, Hb S (Hemoglobin Sickle Cell) settles in certain areas of the
erythrocytes, so the erythrocytes are shaped like a crescent moon and affinity for low oxygen.
(Riska Yuniar, 2013)
Consider the following crosses
P: Ss> <Ss
Gamete: S and s S and s
F1: SS, Ss, Ss, ss
Normal (25%) and Sickle cell anemia (25%) and carrier (50%)

5. Alcaptonuria
It is a disorder caused by the homozygous recessive gene. In this patient the water kencinh be
black or brown because it does not have an enzyme that can convert alkapton to aseto-acetate.
(Riska Yuniar, 2013)

6. Cystinuria
That is the congestion of amino acid cysteine that is difficult to dissolve, causing the
formation of kidney stones. This disorder is caused by dominant C genes in predominant
homozygous (CC), people with normal Cc and cc. (Riska Yuniar, 2013)
Kidney stones in the urinary tract (urinary calculus) are hard mass like rocks that form along the
urinary tract and can cause pain, bleeding, urinary flow or infection blockage. (Riska Yuniar,
2013)
The stone inside the bladder can cause pain in the lower abdomen. Stones that clog the ureters,
renal pelvis or renal tubules may cause back pain or renal colic (severe colic pain). The
symptoms are nausea and vomiting, abdominal swelling, fever, chills and blood in the urine.
Patients may become frequent urination, especially when the stone passes through the ureter.
(Riska Yuniar, 2013)

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7. Galactosemia
Metabolic abnormalities in infants caused by recessive homozygous genes (gsgs). This
disease results in not being able to change galactose in breast milk to glucose.
(Riska Yuniar, 2013)

8. Baldness
Bald is someone who does not have any more hair on his head. Often in Indonesian, the word
"bald" is distinguished by the word "bald". Someone who is bald, her hair is usually trimmed
intentionally, while the bald hair is not. (Riska Yuniar, 2013)
Although baldness is considered normal to men, it turns out it is also triggered by offspring.
There is a gene passed down by either parent or both parties that causes the child also suffers
from baldness. There are also people who suffer from permanent hair loss, which is also caused
by one type of gene called alopecia androgenetika. Hair shape does not affect the onset of
alopecia androgenetika. Treatment should be medically, there is no alternative treatment.
(Riska Yuniar, 2013)

Androgenic alopecia occurs in men in their late 20s or early 30s. Hair will fall gradually starting
from the top of the head and front. The hairline becomes retrograde and the forehead becomes
noticeably wider. The top of the head becomes bald. (Riska Yuniar, 2013)
9. Brakidaktili, sindactili, and polidaktili
This defect attacks the toes and hands. Brachatalysis is a defect that causes the fingers to become
short. This disorder is Bb, Bot bereotive individuals are lethargic and the bb genotype is normal.
while Sindactyly is a defect that causes the fingers or toes attached to the Ss phenotype.
Polidaktili is a defect that causes the number of fingers more than five with the normal individual
pepotypes.
(Riska Yuniar, 2013)

Cystic fibrosis
When a mother has a heterozygote and a homozygous dominant father, the disorder is
homozygous recessive (cfcf). This disease is characterized by abnormalities in protein
metabolism that result in damage to pancreatic organs and lungs
Symptoms of this declining disease is increased appetite, the pancreas channel is blocked
by lenders that interfere with the flow of enzymes needed in the digestion of food, patients also
have difficulty breathing. (Riska Yuniar, 2013)

11. Phenyl ketonuria (PKU)

Occurs in recessive homozygotes, as it does not have the enzyme necessary to convert the
amino acid phenylalanine to amino acid tyrosine. Phenylalanine accumulates in the tissues and
causes slow mental development. Excessive concentrations of phenylalanine in the blood will
interfere with the development and activity of the brain.
(Riska Yuniar, 2013)

The symptoms are the development of slow intelligence, abnormal skin pigmentation (pallor),
prone to epilepsy, slow reflex reaction, abnormal hair, usually not long-lived, and supported its
presence in a mental hospital. (Riska Yuniar, 2013)

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12. Tay -sachs
Brought by homozygous recessive (tt). This patient, his brain contains a complex glycolipid
called gangliosida in high levels (abnormal). The absence of the hexose-aminidase A enzyme to
remodel the ganglioside, so that gangliosides are present in the brain. (Riska Yuniar, 2013)
Characteristics of Tay-Sachs are the slow mental development, paralysis, madness, blindness,
sufferers usually die at the time of the baby or only survive at the age of about 4 years, and
impaired intelligence and nerves. (Riska Yuniar, 2013)

13. Lepore hemoglobin disease

It is an abnormality that occurs in the hemoglobin that arises as a result of crossing as a
result of an unequal crossover between the genes that determine the synthesis of the chain and
the delta chain. In heterozygous state (Ll) mild anemia (lepore), homozygous dominant (LL) is
normal and the homozygous recessive state (ll) suffers from severe and lethal anemia. (Riska
Yuniar, 2013)
14. Thalassemia
The disease is commonly found in Spain, Italy, and Greece. Thalassemia is divided into
2 kinds namely
a. Thalassemia major, is a very severe anemia sufferer and can cause death at baby, gutotype
(ThTh) is homozygous dominant.
(Riska Yuniar, 2013)

b. Minor thalassemia, an anemic sufferer who is not severe, with heterozogot (Thth). While
genotif (thth) is normal. (Riska Yuniar, 2013)

Consider the following crossover diagram.

P: Thth> <Thth
Gamete: Th and th Th and th
F1: ThTh, Thth, Thth, thth
Normal (25%) and Anemia (25%) and carrier (50%)
(Riska Yuniar, 2013)

C. PREVIOUS DEMONSTRATION IN SEX (GONOSOM)

CHROMOSOMES
• Abnormalities that Terpaut X Chromosome
1. Hemophilia
Hemophilia is the nature of the inability of the blood to freeze. If the hemophilia
sufferers are injured and bleeding, the blood is hard to freeze so that the person loses a

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lot of blood and can be fatal. As well as color blindness, hemophilia is a sexually
transmitted disease (sex linkage). (Riska Yuniar, 2013)
Mortality of people with hemophilia is high, especially in children. If a man with
hemophilia survives and survives to marriage, he will lower a normal girl's child but carry the
nature of hemophilia. Then, the children of this descendant girl will reduce the hemophilia to
some of her sons, so that some of her sons are suffering from hemophilia. (Riska Yuniar, 2013)

Hemophilia is a recessive trait that links sex chromosomes. In homozygous state () causes death
(lethal). Female hemophilia (born by normal carrier mother and husband of hemophilia) (Riska
Yuniar, 2013
Hemophilia disease there are two types, namely as follows.

a. Hemophilia A, ie the patient has no blood clotting factor called FAH (antihemofilia factor).
(Riska Yuniar, 2013)

b. Hemophilia B, ie the patient has no DTL factor (Plasma Tromboplastin Component). The
disease was first encountered in England, when England was bombed by Germany in World
War II. At that time, a boy named Christmas was injured and bleeding terribly. The doctor's
diagnosis states that the child is suffering from hemophilia but different from the commonly
encountered hemophilia. Then, the disease is called hemophilia B / Christmas disease. (Riska
Yuniar, 2013).

To clarify the decrease in hemophilia, see the following table:

Genotypes and Phenotypes Haemophilia in males and females

When a normal woman (carrier) is married to a normal male, then:

P :XH Xh > < XHY

Gametes : XH and XH XH and Y
F1 : XHXH, XHY, XHXh, XhY

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 XHXH (normal woman), XHY (Normal Men), XHXh (Normal Woman), XhY (Men
Hemophilia)Thus, the percentage of hemophilia men is 25%, and the percentage of normal girls
is 50%. (Riska Yuniar, 2013)

2. Color Blindness
Color blindness is a genetic or congenital abnormality derived from parents to their children,
this disorder is often also disebaut sex linked, because this disorder is carried by the X
chromosome. This means that the Y chromosome does not carry the color blind factor. This is
what distinguishes between colorblind sufferers in men and women. A woman has the term
'carrier of nature' this shows that there is one X chromosome that carries the color blindness.
Women with carrier properties, physically do not experience color blindness as normal women
in general. But women with carrier properties have the potential to reduce the color-blind
factor to later children. If on both X chromosomes contains a color blind factor then a woman is
suffering from color blindness. (Riska Yuniar, 2013)

Color blinds can be tested by the Ishihara test, in which colored circles, some of which are
designed to have certain writing that can only be seen or can not be seen by colorblind people.
(Riska Yuniar, 2013)

Information :
Genotype XX: shows normal women
Genotypes XcbX: shows female carrier color blind
Genotypes XcbXcb: shows the woman is color blind
Genotypes XY: shows normal men
Genotypes XcbY: shows color blind men (Riska Yuniar, 2013)

3. Dental disease
Diseases that attack teeth can also be due to offspring such as Anodotin is an abnormality that adheres
to the sex chromosome X and is controlled by recessive genes. Another name of anodotin is the ombong
so that the child with the tooth has no teeth. Amola is a disease controlled by recessive genes. Another
name Amola is the unlit tooth. And teeth are not enamored with dominant control genes. (Riska Yuniar,
2013)

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P1 = XAXa >< XAY
Charrier Normal

Anodontia
G = XA,Xa XA,Y

F1 = XAXB = Charrier
XaY = Anodontia
XAXA = Normal
XAY = Normal

4.Hypertrichosis
Hypertrichosis is a descendant of hair growth in certain parts of the earlobes, face, and other
limbs. The cause of recessive genes (h) belonging to the Y chromosome. This disorder is only owned by
men. (Teo Sukoco, 2013)
The Abnormal Disorder on Y Chromosome
Some diseases linked to Y chromosome are hectekgraphior disease (hair like a hedgehog) with a
recessive control gene (XYhg). There is also a webbedtoes between the finger of the patient there is a
membrane) is controlled by the recessive gene also XYwt. there is also Hypertrichosis ie the presence of
hair on the earlobes, which is controlled by recessive genes (XYht). (Riska Yuniar, 2013)

D. DESCRIPTION OF THE CHROMOSOMES NUMBER

The number of human chromosomes is 46 chromosomes, often denoted by 22AA + xy or 44A + xy or
46xy. Which means it consists of 22 pairs of autosomes and a pair of gonosomes or 44 autosomes and a
pair of gonosomes. There are abnormalities in the number of chromosomes both chromosomal and
chromosomal decreases in humans, often known as syndrome. (Riska Yuniar, 2013)

1. Turner's syndrome is found by H.H. Turner in 1965.

This individual has 22 pairs of autosomes plus one X so it is considered monosomy (2n-1). The
phenotype is women with stunted, sterile, short-body growth, undeveloped breasts, no menstruation,
abnormal heart tissue, and imperfect hearing. (Riska Yuniar, 2013)

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2. Klinefelter's syndrome was discovered by klinefelter in 1942.
It has 22 pairs of autosomes plus XXY sex chromosomes so the genotype of 22AA + XXY coming from the
gametes fails to split between (22A + XY) and normal gametes (22A + X). So this syndrome has 22 pairs
of autosomes plus XXXY but rarely happens. In other words, this syndrome of X chromosome satiety
suffered by men. (Riska Yuniar, 2013)

Growing breasts, less hair growth, extreme long arms and legs so that the whole body looks tall,
high voice like a woman, small testis, genitalia looks normal but spermatozoa usually not formed. (Riska
Yuniar, 2013)

3. Jacobs syndrome was discovered by P.A Jacobs in 1965.

Patients with this syndrome have 47 additional chromosomes on a Y sex chromosome, suffered by men.
Extremely high body size, intelligence has an IQ between 80-118, and is aggressive. (Riska Yuniar, 2013)

4. Down syndrome was discovered by P.A Jacobs in 1866

Short body and butt, arms or legs bent, wide head, rounded face, mouth always open, tip of large
tongue, wide and flat nose, both nostrils are wide apart, wide eyelid distance, eyelids have epicantic
folds so similar to oriental person , iris sometimes spots, low IQ between 25-75, have heart
abnormalities and are not resistant to disease. This patient has one chromosome on a normal
chromosome, which is 21. So the number of chromosomes is written 2n + 1.
(Riska Yuniar, 2013)

From the cytology point of this syndrome is divided into 2 namely:

a. Down syndrome Triplo 21 or Trisomy 21, so the sufferer has 47 chromosomes. Patients male 47, XY,
+21 while female patients 47, XX, +21. It is estimated that 92.5% of all Down syndrome cases fall into
this type. (Riska Yuniar, 2013)

b. Down syndrome Translocation, translocation is the occurrence of changes in the structure of

chromosomes, because chromosomal pieces are joined by other chromosome pieces that are not
homologous. (Riska Yuniar, 2013)

5. Edwards syndrome
Syndrome that places number chromosomes, can also add to the sex chromosome, for example 22AA +
XXX (female) or 22AA + XYY (male). In other words, Edwards syndrome, for the sufferer has 47
chromosomes, where the additional chromosome becomes the third chromosome on the 18th
chromosome pair. It is this chromosome addition that causes various disorders in the patient. (Riska
Yuniar, 2013)
It has many forms of abnormality that is low ear, lower lower jaw, small mouth, mental tuna, double
kidney and short breastbone. (Riska Yuniar, 2013)

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6. XYY Men
XYY men are generally more aggressive than normal men and like to do evil and violate the norm. This
man has 2 Y chromosomes this incident takes place when his father forms a spermatozoa, and this
sperm fertilizes an egg (bringing X) then a zygote develops into a XYY boy (47, XYY). (Riska Yuniar, 2013)
Failure to develop a zygote can also cause a man to have a female-like nature and vice versa. The man
whose XY chromosome gets extra X from the mother will have a female nature. Similarly, women who
have XX chromosomes when fertilization mistakes cause receive additional Y chromosome then girls will
tend to have male properties. (Riska Yuniar, 2013)

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