Anthropology1020 Human Origin Evol/Diver - Essay Example

Anthropology" Describe the Huntington’s disease (HD), its prevalence and its relation to the genetics we have been discussing in the and discuss why it is important to non-medical professionals such as anthropologists. Huntington’s disease (HD) is an insidious disorder caused by an autosomal dominant mutation, which has a prevalence rate of one in 10,000 individuals of European descents. Individuals with HD undergo progressive degeneration of central nervous system, usually beginning at an early age of 30 to 50 years and terminating in death in 10 to 15 years later.

HD is untreatable. However, the identification of the gene and the mutational defect responsible for HD has kindled hope for an effective treatment in future. The condition onsets at the later age, most HD patients already have children before the disease symptoms appear. Since the disorder is caused by the dominant mutation, each child of heterozygous HD patient have 50 percent chances of being afflicted with the disease. Thus, these children observe the degeneration and death of their HD parent, knowing that they have 50:50 chances of suffering from the same fate.

The huntingtin gene is expressed in many different cell types, producing a large 10-11 kb mRNA. The coding region of the huntingtin mRNA predicts a protein 3144 amino acids in length. The dominance of HD mutation indicates that the mutant protein has some new function that is responsible for the disease condition. Although the identification of genetic defect the expanded trinucleotide repeat in huntingtin gene has contributed little to understand the molecular and cellular basis of this neurological degeneration that occur in HD patients, it has provided simple and accurate DNA test for HD mutation.

Thus, individuals at risk of carrying the mutant huntingtin gene can easily be tested for its presence. Since the PCR procedures require very little DNA, the test for HD can be performed prenatally on fetal cells obtained from amniocentesis or chronic biopsy. Such a step, to test the prevalence of HD mutation, individuals who are at risk of transmitting a defective gene to their children can determine whether they carry it before starting a family. However, the potential psychological effects of positive identification of HD mutation can be traumatic.

Given that 50:50 chance of diagnosis of HD: no HD; it is always beneficial to know it before hand. For those individuals whose test is negative, a heavy burden is lifted but individuals with the test result positive have to prepare emotionally and financially for the onset of disease. Thus, the DNA test for HD patient must be performed with great care and only in conjunction of proper counseling. Heterozygous individuals with 50 percent chances of transmitting the mutation to their offspring, should not go for family.

Moreover, the fetus should be tested prenatally or the couple should opt for in vitro fertilization. In such cases only the fetus at the eight cell stage with positive huntingtin gene should be taken into consideration to prevent the complications. An understanding about the disease condition is imperative for non-medical professions such as anthropologist as well. Anthropologist help is required to counsel individuals and to guide them appropriately; especially in the case of positive reports for HD DNA test.

Work CitedSnustad, D. P., Simmons, M. J., Jenkins, J. B. “Principles of Genetics”. 3rd Edi. John Wiley & Sons, Inc. 2002.