Term paper on Genetic Disorders
Genetic Disorders Essays
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Chris Grounds CCS
Biology II 10/3/00
Earth’s inhabitants have populated all of the regions of the world, discovered places never dreamed of, and have advanced beyond normal understanding, while man can still be conquered by an object which is immeasurably small. While man has been so busy trying to find a way to get rid of all pain and suffering, he has finally discovered that there are things that cannot be stopped. This relentless phenomenon is called a genetic disorder. A genetic disorder by definition is a medical condition caused by an error in a person’s genetic material . Genetic disorders play an important role in life and must be learned about if humans are going to survive.
To fully comprehend genetic disorders, one must understand the basics of genetics and it’s diseases. Some genetic disorders can already be seen at birth, while others don’t show up until in childhood or adult life. In these instances it is usually harder for them to be identified. These disorders aren’t always serious though, they may cause such a small disease as color blindness or go all the way up to death. There have already been 9000 genetic disorders found and researched by scientists. What makes genetic disorders really stand out is their complexity. Genetic disorders are known for affecting at least more than 3 different parts of the body, thus making them harder to cure and more of a threat.
All genetic disorders involve genes of the nuclei in some way or fashion. Genes are made of DNA, Deoxy Ribo-Nucleic Acid, and are arranged specifically on chromosomes. Chromosomes are tight coils of chromatin, which is made up of DNA. Chromosomes are an instrumental factor in genetic disorders. Chromosomes are made up of a “p” arm and a “q” arm. “P” stands for petite or short, while “q” is the next letter in the alphabet, it means long. Located in the center of the chromosome is something called a centromere, pinched portion of the chromosome that connects both arms of the chromosome. Normal humans have 46 chromosomes, which means that they have 23 pairs of chromosomes. 44 of these chromosomes are normal, while that last two determine the gender of the individual. To understand chromosomes, a technique was made that could stain chromosomes so that they could be seen. After this innovation was discovered, a new technique rose called banding. There are many variations to chromosome banding. Examples of such variations are Q banding, G banding, and C banding. Each different form uses a separate medium to show the bands of the chromosome. The bands of chromosomes act as fingerprints, and allow humans to organized and recognize them. A visual organized representation of chromosomes is called a karyotype. There are many different variations of karyotypes which go accordingly with the different chromosomes and genetic codes. A spectral karyotype distinguishes between chromosomes by color, while a classic one separates by pairing off in chronological order.
There are four main areas of genetic disorders, Chromosomal, Single-gene disorder, multifactorial, and Mitochondrial. Chromosomal disorders affect approximately seven out of every 1,000 infants. A chromosomal disorder is brought about when a person has too many or too few chromosomes, or when there is a change in the structure of a chromosome. Euploidy is the condition of having a normal number of structurally normal chromosomes. A euploid of any sort has the correct form of product. Aneuploidy is the condition of having less than or more that the normal diploid number of chromosomes. This condition is associated justly with cell genetic abnormalities. There are two common forms of aneuploidy, Monosomy and Trisomy. A monomy is the lack of a pair of chromosomes. An example of a disease caused by a monomy is Turner’s Syndrome. Turner’s syndrome is a monomy of the “x” chromosome. Instead of having two “x” chromosomes there is only one functioning chromosome. A Trisomy is having three chromosomes of a specific type. A common trisomy is trisomy 21. Trisomy 21 is Down’s Syndrome. The 21’st pair of chromosomes has three instead of just two. There is another type of aneuploidy called triploidy. A triploid has three of each chromosome. Most, if not all, individuals that are born as triploid are either dead already, or will die very soon. A chromosome deletion is when part of a chromosome has been either deleted or broken off and lost. A deletion may get rid of an entire chromosome, part of one, or a band. An example of a disease caused by a chromosome deletion is cri-du-chat. A chromosome duplication is when a section of a chromosome is duplicated. This is also called a partial trisomy. A new form of chromosome deformation has been discovered. It is called a chromosome ring. This is when one end of the chromosome may stick to the other and form a circle which will cause problems when cell division takes place. Another way this could happen is a form of cell fusion. A chromosomal translocation is when a portion of a chromosome switches with another portion and thus making a mixture of two different chromosomes. There are two different types of translocation, balanced and unbalanced. An unbalanced translocation is more dangerous because there is probably three pieces of one chromosome, and only one of another. On the other hand, a balanced translocation shouldn’t have that much trouble, because all of the genetic material is there, however if the individual seeks to have children, then there are certain risks involved. A chromosome inversion is when there are...
1. Brittanica.com2. http://daphne.palomar.edu/abnormal/abnormal_1.htm
3. http://arbl.cvmbs.colostate.edu/hbooks/genetics/medgen/chromo.html
4. http://members.aol.com/cdousa/intro.htm
5. www.ich.bpmf.ac.uk/cmgs/fishsg.htm
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