Neurofibromatosis Type 1

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Recommended: Heredity And Environment

Neurofibromatosis Type 1
Linda Mae Neal
Kaplan University

Neurofibromatosis Type 1
“There are an estimated 20,000-25,000 human protein-coding genes” ("Genome," 2014, para. 1). “The total length of the human genome is over 3 billion base pairs” ("Human Genome" 2014, para. 5). Why is this important? Each of us is unique. We have our own set of genes. Sometimes the gene base we inherit expresses certain debilitating diseases. Wouldn’t it be great if modern science could pin point those mutated, problem genes and remove them? Genes can change our lives. These genes can be passed on from generation to generation. Healthcare costs are at an all-time high. Eliminating disease producing genes would not only relieve pain and suffering but make for a healthier, more productive world decreasing societal healthcare costs. Neurofibromatosis type 1 (NF1) is a serious disease. There are an estimated 100,000 Americans that are living with this diagnosis. This discussion will focus on the genetic implications, manifestations, and witnessed accounts of debilitation from the neurofibromin gene mutation. Heredity, molecular genetics, genetic variation, and bioethical issues will be discussed. The specific genetics of NF1 will be the focus of this paper.
Description of NF1
Humans contain eukaryotic cells. Neurofibromin genes are found in human cells. What is NF1? This is an autosomal-dominant mutation of the neurofibromin gene on chromosome 17 which allows tumor growth along neural tracts in the body. Autosomal-dominant means only one gene mutation from one parent is needed to manifest the disease traits. The abnormal gene supersedes function of the paired normal gene present in the chromosome. Neurofibromin is a prote...

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...on maximizing happiness and minimizing suffering. Utilitarianism would be in favor of genetic testing to minimize suffering on those affected with the disorder. So the question comes down to which method of ethics does one follow? What is best for society?
In conclusion, NF1 has been discussed on a genetic level. Hereditary genetics, molecular genetics, and genetic variation have been explored. The topics included mitosis, meiosis, gene linkage, chromosomal basis of inheritance, and Mendelian genetics were discussed in detail. NF1 structure, mutations, and genomics were discussed. Population genetics, traits of the gene, enzyme activity, and current research was also included. Visual tables of the Punnett square were included to show probability of phenotype in the F1 and F2 generations. Lastly, the ethical basis for issues related to NF1 were addressed.

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