Ryan, Madison

Period 1
Kraft, Amy
2015 April 24
Defective Genes and Their Effects

Humans have been attempting at decoding the human genome for decades, but only recently has

become possible. With this newly developed science, scientists can look for causes and risk levels of

chromosome-based genes. But how does this science work? And, if someone were to find that they had a

defective, disease-causing gene, would they still want children? This new DNA analyzing science poses

many serious questions upon people and their life decisions.

First, diseases rooting from defects in a person's chromosomes have terrorized and killed humans

for as long as we can remember. All of the bodys functions, instructions, and basics of life are inside

those chromosomes. Were something to happen to these strands of DNA, the body would not be able to

function properly. And, since the disease is rooted in DNA and not virus or bacteria, it is near impossible

to treat. Humans have set themselves to solve these problems of the human DNA, to stop these diseases

and to learn more about them. The ability to study and observe have advanced medicine and science

exponentially.

Furthermore, chromosomal testing was primarily used to find anomalies or mutations in DNA,

RNA, or proteins. Since then, the amount of tests and uses has increased greatly. It has become so easy, in

fact, that some tests can be bought by the public. The process begins with an easy collection of cells; the

most common collection is through a cheek swab. Initially, scientists could discern diseases by simply

studying the cells and chromosomes under a microscope. They also stained the chromosomes with dye to

create dark bands on the chromatids which can be photographed and studied. They could identify damage

or anomalies in chromosomes structure. Other tests take chromosomes and compare them to a normal

DNA sample--instead of a microscope, the scientists would simply have to compare and contrast. Even

others use chemicals and proteins to screen cells and DNA for defects or certain harmful sequences in the

chromosomes. These tests are very accurate, if done properly, and can let patients know ahead of time of

risks contained in their DNA.

 Furthermore, if I had discovered that my DNA contained defects and risks, I would most likely

give up on having children. However, I would only take this course of action if my bloodline was insured

continuation by my siblings having children already. If they, for some reason, did not ensure our

bloodline, I would. Despite my DNA defects, I would still have children. The possibility of my children

acquiring my bad DNA is unknown; its possible they wouldnt get it at all. Additionally, if the genes

had been present in my cells my entire life and not affected me, then the same may go for my children.

Here may be a good example of Darwins theory; if the genes were to take action, they would most likely

die off with the host, however depressing that may be. So, ultimately, the defective gene would become

less and less existent as time went on and new generations were being created. So, having children would

really still be an option as the genetics of having defective genes have a large probability of working in

our favor. The children may not even inherit the gene. They may take other genes from me and even then

those might be recessive--they could just as well get all dominant genes from their father.

The science behind identifying defective genes is both simple and complicated. It really depends

on which test taken, and what defects are being identified. If one was looking for damaged or extra

chromosomes, it would simply come down to studying the DNA under a powerful microscope. But to

identify diseases and the risk of contracting them, scientists must test the chromosomes in several

different processes. These processes can range from dyeing the chromosomes, duplicating the

chromosomes, and putting the chromosomes through computer programs to decide the base sequences.

Were I to discover my chromosomes contained such defects, I would indeed still have children. The fact I

had these defective genes would frighten me, and make the idea of reproduction risky and unneeded, but

if the need or want arose, the idea is still ultimately 'on the table.'

Sources

Centers for Disease Control and Prevention. Centers for Disease Control and

Prevention, 28 June 2013. Web. 27 Apr. 2015.

 "Regulation of Genetic Tests." Regulation of Genetic Tests. National Human Genome

Research Institute, 17 Apr. 2015. Web. 27 Apr. 2015.

"Science of DNA Testing." Science and Technology behind DNA Testing. DNA

Diagnostics Center, n.d. Web. 27 Apr. 2015.

"NIH Fact Sheets - Genetic Testing: How It Is Used for Healthcare." NIH Fact Sheets -

Genetic Testing: How It Is Used for Healthcare. NIH, n.d. Web. 27 Apr. 2015.

"GeneTests.org." GeneTests.org. GeneTest, n.d. Web. 27 Apr. 2015.

"Chromosome Abnormalities Fact Sheet." Chromosome Abnormalities Fact Sheet. NIH,

n.d. Web. 27 Apr. 2015.