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Running head: GENETIC MARKERS ON HUMAN TISSUES

Genetic Markers on Human Tissues

Name

Institution
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GENETIC MARKERS ON HUMAN TISSUES
Table of Contents

Introduction .................................................................................................................................................. 3
Area of research ........................................................................................................................................ 4
Purpose of the study ................................................................................................................................. 4
Research objectives .................................................................................................................................. 4
Research questions ................................................................................................................................... 4
Hypothesis................................................................................................................................................. 5
Significance of the study ........................................................................................................................... 5
Literature review........................................................................................................................................... 6
What is a genetic marker? ........................................................................................................................ 6
Types of Genetic markers .......................................................................... Error! Bookmark not defined.
Leg ulcers .................................................................................................................................................. 6
Methodology................................................................................................................................................. 8
Research Design Strategy.......................................................................................................................... 8
Target population ..................................................................................................................................... 8
Data Collection Procedures....................................................................................................................... 8
Data Analysis Procedures.......................................................................................................................... 9
Ethical Issues ............................................................................................................................................. 9
References .................................................................................................................................................. 10
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GENETIC MARKERS ON HUMAN TISSUES
A study on genetic markers on human tissues

Introduction

According to Gibbons, Liew, Goodarzi, Rotter, Hsueh, Siragy, & Dzau, (2004) the

completion of the Human Genome Projected provided researchers with an unprecedented

opportunity to improve the human health and identify high-risk patients by using technologies

which make integration of the whole genome. Before this discovery, disorders which yielded

secrets to genetic investigations were rare and often single-gene conditions such as the Liddle

Syndrome. However, more attention is being provided on elucidating genetic susceptibility to the

ordinary multifactorial diseases which are encountered by clinicians regularly (King, Rotter, &

Motulsky, 2002). Currently, a critical part of the medical research is concentrated in the pursuit

of genetic variants for the identification of disease. The variants are often not the causes of the

illness, but the markers which help in improving the diagnosis as well as risk assessment. In

other words, laboratory tests are conducted on tissues using genetic markers with the sole aim of

identifying an organism (s) which causes infection.

The level of expression in some genes which means the amount of proteins produced or

the corresponding RNA might signify the state of the disease. Normally, some of the diseases are

monogenic which means that they caused by a defect in only one gene. When such cases occur,

genetic studies utilize clinical diagnosis straightforward (King et al. 2002). Genetic marker

variants in the body DNA have been associated with a particular disease phenotype which

reveals the variations. The use of DNA Marker technology has revolutionized how human

genetic studies are conducted. Genetic markers can be considered as heritable polymorphisms

which can be measured in more than one population of individuals (Gibbons et al. 2004). Based
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on this background, the study to be conducted will test tissues from patients suffering from leg

ulcers using genetic markers to identify contagious organisms that contribute to the infection.

Area of research

The development of the DNA Marker technology has made it easier for researchers to

identify infections in human tissues than ever before. In the past, researchers found difficulties in

identifying infectious process when using common methods such as culture. Nonetheless,

through genetic markers, researchers can be able to identify infection in tissues of patients who

suffer from pathological conditions such as chronic leg ulcers.

Purpose of the study

The purpose of this study is to identify the presence of genetic markers for infection in

tissues of patients who suffer from chronic leg ulcers.

Research objectives

The specific research objectives include:

 To investigate the presence and quantity of genetic markers for infection in tissues of

patients suffering from chronic leg ulcers

 To find out the benefits of using genetic markers in the identification of an infective

process in patients suffering from chronic leg ulcers

 To conduct a qualitative assessment from the patient’s blood markers

Research questions

 Are genetic markers present in tissues of patients suffering from chronic leg ulcers?

 What are the benefits of using genetic markers in the identification of an infective process

in patients suffering from chronic leg ulcers?

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 What are the results of a qualitative assessment conducted from patients blood markers?

Hypothesis

The hypothesis of this study is that some chronic leg ulcers have an infective agent in

their origin despite a negative culture or negative tissue biopsy.

Significance of the study

Conducting this research is important for a number of reasons. First, the findings of the

research will help clinicians in different parts of the world who struggle to cure this disorder. The

findings will also be critical in formulating policies and guidelines for the treatment of this

disease. Moreover, the research findings will be useful for the patients suffering from this

disease. When these findings are utilized it will be easier to cure patients which will mean they

spend less when seeking treatment. Finally, this research will expound on the knowledge and

understanding of the researcher and at the same time contribute to the literature of the topic

under study.
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Literature review

What is a genetic marker?

A genetic marker is a DNA sequence or a gene with a known physical location on a

chromosome (Bitgood &Shoffner, 1990). They are used to study the evolutionary relationships

among individuals, animal and plants genetic variations (Williams, Kubelik, Livak, Rafalski, &

Tingey, 1990). In this case, they will be used to study the presence of infectious tissues in

patients suffering from leg ulcers. Genetic markers are also used to detect polymorphism for

different genotypes in a DNA sequence. Genes that have not been localized can have their

specific inheritance pattern determined by genetic markers owing to the fact that DNA lying

together in a chromosome tends to be related. Complex diseases are polygenic. Therefore, in

cases of complex disease, genetic markers are more difficult to identify (Bitgood & Shoffner,

1990). Thus, genetic markers may have functional and non-functional consequences on a gene

which may lead to the development of a disease when it alters the functionality or expression of

a gene (Williams, et.al 1990). In relation to this, genetic markers can be used to test tissues to

determine infectious organisms which contribute or cause a specific disease or infection. Genetic

markers will be used in the study to make assessment of infected tissues in individuals with leg

ulcers which is considered to be a break in the skin as described below.

Leg ulcers

A leg ulcer is a break in the skin, usually a sore that takes more the four or six weeks to

heal. In normal situations, a wound in the skin would heal in one or two weeks but when Bacteria

gets into the underlying tissue, the skin may not heal and this might develop into an ulcer (Kahle,

Hermanns & Gallenkemper, 2011). Signs and symptoms of leg ulcers include: swollen ankles,
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hardened skin in the sore area, pain in the legs when the individual stands for a long time,

enlarged veins in the leg and red or irritated skin (Kahle, et.al 2011).

Leg ulcers are caused by a number of factors. First, they are caused by an arterial disease

is because of poor blood circulation. One of the arteries in the leg may block causing arterial leg

ulcer. According to Grey, Harding & Enoch, (2006) this type of ulcer accounts for about 15% of

leg ulcers. Secondly, leg ulcers are caused by a venous disease which emanate from faulty veins

in the legs whose valves do not circulate blood freely through the body and to the heart.

Therefore, they tend to flow the blood back to the legs hence increasing the pressure in the leg

veins eventually causing the skin to become thin and increasing the risk of venous ulcers (Grey,

et.al 2006). Finally, leg ulcers can be caused by diabetes because patients have cases of high

glucose levels in their blood which reduces the healing process in wounds. When a leg sore is not

healed for more than four weeks, it is exposed to the risk of leg ulcers (Callam, Harper, Dale &

Ruckley, 1987). Other causes of leg ulcers include malignant leg ulcers caused by a tumor in the

skin of the leg, clotting disorders, and infectious diseases such as toeweb infection among others.

According to Grey, Harding & Enoch, (2006) physical examination to find out the cause

of the ulcer is also done and this may involve the Doppler machine which checks the blood

supply in the legs. Diabetic patients can be treated by relieving any pressure on the wound

surgical treatment and adequate control of the infection (Callam, et.al 1987).
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Methodology

Research Design Strategy

The In vitro study to be conducted will use a cross-sectional research design which is an

observational study making analysis of data collected from the population targeted. This research

design is appropriate in making assessment of the prevalence of acute or chronic conditions or

aspects that are related. In this case, this research design will be used in investigating the

presence of genetic markers for infection in tissues from patients suffering from a pathological

condition. This study will utilize purposive sampling in the selection of an appropriate sample

size.

Target population

The study will be in vitro studies on human tissues in the laboratory. The patients are

adults with chronic leg ulcers and done in a laboratory located at the University. The

investigators will be histopathologist and clinician where an assessment of the quantity of

markers in the tissues will be done.

Data Collection Procedures

The data will be collected using In vitro experiment procedures where the research is

conducted using an organisms components in this case human tissues. The use of this approach is

preferred because it is more convenient, simpler, and allows a more detailed analysis. Apart from

this a qualitative assessment will be conducted from the blood markers in the patients and done

using structured interviews. As started, purposive sampling will be used where a sample size of

60 patients will be selected.

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Data Analysis Procedures

The quantitative data collected from the laboratory will be analyzed scientifically using

Microsoft Excel and SPSS. The data will be presented using figures, charts, and tables. On the

other hand, qualitative data will be analyzed using content analysis.

Ethical Issues

To successfully conduct the study, permission will be sought from the Research Ethics

Committee of the University. Moreover, consent from the research respondents will be obtained.

Consent will be obtained after the purpose of conducting the study has been explained. Research

participants will be required to sign a consent form. Participation in the research to be conducted

will be voluntary. Moreover, respondent’s right to withdraw from the research will be

guaranteed. . Confidentiality is also an ethical factor which the research will adhere to ensuring

that the personal information of the patient’s remains protected. More so, the respondent’s

privacy will be assured.

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References

Bitgood, J. J., & Shoffner, R. N. (1990). Cytology and cytogenetics. Developments in Animal

and Veterinary Sciences (Netherlands).

Callam, M. J., Harper, D. R., Dale, J. J., & Ruckley, C. V. (1987). Chronic ulcer of the leg:

clinical history. Br Med J (Clin Res Ed), 294(6584), 1389-1391.

Gibbons, G. H., Liew, C. C., Goodarzi, M. O., Rotter, J. I., Hsueh, W. A., Siragy, H. M., ... &

Dzau, V. J. (2004). Genetic markers. Circulation, 109(25 suppl 1), IV-47.

Grey, J. E., Harding, K. G., & Enoch, S. (2006). ABC of wound healing: venous and arterial leg

ulcers. BMJ: British Medical Journal, 332(7537), 347.

Kahle, B., Hermanns, H. J., & Gallenkemper, G. (2011). Evidence-based treatment of chronic

leg ulcers. Deutsches Ärzteblatt International, 108(14), 231.

King, R. A., Rotter, J. I., & Motulsky, A. G. (Eds.). (2002). The genetic basis of common

diseases. Oxford university press.

Williams, J. G., Kubelik, A. R., Livak, K. J., Rafalski, J. A., & Tingey, S. V. (1990). DNA

polymorphisms amplified by arbitrary primers are useful as genetic markers. Nucleic

acids research, 18(22), 6531-6535.