Centro Escolar University

in cooperation with
Centro Escolar Integrated School
SENIOR HIGH SCHOOL
Manila

Inherited Diseases Pass Down from One

Generation to Another
(A Review)

In partial fulfillment
of the requirements in
Academic Reading and Writing

Submitted by:
Maria Ruthdel S. Angeles

Submitted to:
Mr. Bernard P. Paderes

March 2016
 REVIEW OF RELATED LITERATURE AND STUDIES

This chapter presents the different literature and studies about hereditary diseases

including its factors that cause hereditary diseases and its classification of hereditary diseases.

Hereditary Diseases

Families have many factors in common, including their genes, environment, and

lifestyle. Together, these factors can give clues to medical conditions that may run in a family.

By noticing patterns of disorders among relatives, it can be determined whether an individual,

other family members, or future generations may be at an increased risk of developing a

particular condition. A family medical history can identify people with a higher-than-usual

chance of having common disorders, such as heart disease, high blood pressure, stroke, certain

cancers, and diabetes (Genetic Home Reference, 2017).

Hereditary disease is a condition which can be characteristically transmitted from

one generation to another. Every person develops under the influence of a mix genes inherited

from his or her mother and father. Each cell in the body contains 23 pairs of chromosomes. One

chromosome from each pair is inherited from your mother and one is inherited from your father.

The chromosomes contain the genes you inherit from your parents. Thus, conditions present in

parents can also be seen in offspring due to the capacity of feature transmission through

defective genes (Baker, 1997).

A gene with a defect that causes a particular disease may be passed through

generations of a family without causing illness. That is because the normal gene in the pair may

work well enough to cover the defect. However, most inherited genetic diseases are recessive,

which means that a person must inherit two copies of the mutated gene to inherit a disorder. As a
result, if a child inherits two genes with the defect, the child will develop the disease. This is one

reason that marriage between close relatives is discouraged; two genetically similar adults are

more likely to give child two copies of a defective gene (Baird & Nadel, 2010).

Factors that Cause Hereditary Diseases

The main factor that causes hereditary disease is described as mutation. A

mutation is a permanent change in the DNA sequence that makes up a gene. Gene mutations

occur in two ways: they can be inherited from a parent or acquired during a person’s lifetime.

Mutations that are passed from parent to child are called hereditary or germ line mutations. In

other hand, Acquired or sporadic mutations are caused by environmental factors such as

ultraviolet radiation, or or can occur if a mistake is made as DNA copies itself during cell

division. Acquired mutations in somatic cells cannot be passed on to the next generation, but the

germ line mutations can be (Bucher, Dirksen, Heitkemper & Lewis, 2013).

The second factor is a person’s lifestyle. According to WHO (2001), 60% of related

factors to individual health and quality of life are correlated to lifestyle. However, millions of

people follow an unhealthy lifestyle (WHO, 2001). Unhealthy diet, smoking cigarette, alcohol

consuming, drug abuse and physical inactivity are the factors which are the presentations of

unhealthy lifestyle. This results in higher risk levels of diseases, such as hypertension,

dyslipidemia, diabetes, and obesity (Farhud, 2015). Those factors can affect the genes’ structure

that can result to inheritable diseases which can pass through generation.

Classification of Hereditary Diseases

There are two types of Hereditary Diseases which are Polygenic Inheritance

Diseases and Mendelian Inheritance Diseases.

 Polygenic inheritance diseases are determined by the additive effects of many

genes at different loci together with the effect of environmental factors. Familial occurrence

probability of disease in the first degree relatives are about 5-10% while in the second degree

relatives are about 0-5%. The example diseases are cancers, heart diseases, autoimmune diseases,

diabetes, osteoporosis, hypertension, obesity, atherosclerosis, depression, and schizophrenia

(Hamamy, 2010).

Mendelian inheritance diseases can be classified into four categories which are

autosomal dominant diseases, autosomal recessive diseases, x-linked dominant diseases, and x-

linked recessive diseases.

In inherited autosomal dominant diseases, the presence of a single mutant allele on

one chromosome is sufficient to cause disease. Autosomal dominant diseases affect both males

and females in multiple generations, and each offspring of a person with an autosomal dominant

disease has a 50% chance of inheriting the mutation. Autosomal dominant disorders can be

transmitted from father to son, a feature that distinguishes autosomal dominant from X-linked

patterns of inheritance. The example diseases are Huntington’s diseases, myotonic dystrophy,

hypercholesterolemia, and polycystic kidney disease (Fletcher, Hickey, & Winter, 2012).

In autosomal recessive diseases, the alleles on both homologous chromosomes are

mutated. There is therefore no normal allele to provide the missing function encoded by the

mutated genes. Each offspring of the mating of two carriers of an autosomal recessive trait has a

25% risk of being affected, a 50% risk of being a carrier, and a 25% chance of inheriting a

normal allele from each parent. The example diseases are phenylketonuria, cystic fibrosis, sickle-

cell anemia, and albinism (Fletcher et. al, 2012).

 X-linked dominant diseases appear when a dominant mutation is present on the X

chromosome. In males, the expression of the disease phenotype is inevitable. In females,

although the homologous X chromosome is normal, it is insufficient to prevent the expression of

the dominant phenotype. When analyzing pedigrees, X-linked dominant inheritance can be

suspected when there is no male-to-male transmission of a dominant phenotype. Affected

females transmit the mutation to 50% of their offspring. Affected males transmit the mutation to

all of their female offspring, but not to their male offspring. The example disease is

hypophosphatemic rickets (Kileen, 2004).

X-linked recessive diseases are generally expressed only in males carrying a

mutant X chromosome. Carrier females, who have one normal X chromosome in addition to the

mutant chromosome, are generally unaffected, although in unusual situations they may express

the phenotype. The absence of affected females and the lack of male-to-male transmission is

characteristic of X-linked recessive traits. Carrier females transmit the mutation to 50% of their

offspring. Males who inherit the mutation invariably express the phenotype. Affected males

transmit the mutation to all of their female offspring, who are therefore carriers, but not to their

male offspring. The example diseases are hemophilia a and muscular dystrophy (Kileen, 2004).

Bibliography:
Baird, J.D., & Nadel, L. (2010). Happiness Genes: Unlock the Positive Potential Hidden in Your
DNA. USA: Career Press.

Baker, C. (1997). Your Genes, Your Choices. Washington, DC: American Association for the
Advancement of Science.

Bucher, L., Dirksen, S. R., Heitkemper, M. M., & Lewis, S. L. (2013). Medical-Surgical
Nursing: Assessment and Management of Clinical Problems. Canada: Elsevier Health
Sciences Publishing.

Farhud, D. D. (2015). Impact of Lifestyle on Health. Iran J Public Health, 44(11), 1442–1444.
Flecther, H., Hickey, I. & Winter, Paul. (2012). Instant Notes in Genetics. New York, NY:
Taylor & Francis Publishing.

Genetics Home Reference. (2017). Inhereting Genetic Conditions. USA: Lister Hill National
Center for Biomedical Communications

Hamamy, H. (2010). Multifactorial or Polygenic Inheritance. Retrieved March 22, 2017, from
http://www.gfmer.ch/SRH-Course-2010/course-files/pdf/Multifactorial-polygenic-
inheritance-Hamamy-2010.pdf

Kileen, A. (2004). Principles of Molecular Pathology. New York, NY: Human Press Publishing.

WHO. (2001). Services for prevention and management of genetic disorders and birth defect in
developing countries. J Sch Health, 74(6), 204-6.