Alu elements are the most abundant type of retrotransposable element, and are incorporated into the genetic sequence in a copy and paste manor. ~10.7% of the genome consists of Alu elements[1]. The large amount of Alu elements in the human genome results because of how they are replicated by LINE retrotransposons[2]. After replication they look similar to RNA Polymerase III replicated DNA, or mRNA, but they are reverse transcribed from the like-mRNA sequence into a newly created Alu element that can be transposed to a target sequence in the genome. Due to the vast amount of Alu elements, they contribute to genetic diversity and disease by inserting into sensitive portions of the genome that can result in mutagenesis. In my chosen case study, …show more content…
The assessment included ophthalmologic, audiologic, and general physical examinations, as well as serum chemistries and routine urinalysis. Peripheral blood samples was extracted from the patients, their unaffected siblings, and their parents. The genomic DNA from all samples was amplified with ALMS1 exon 16-specific primers, and products were purified and sequenced using the 3730×l DNA Analyzer. In the results, the researchers compared two patients from a highly consanguineous kindred from the small village, in which they both had the syndrome caused by homozygous inheritance for an identical insertion of 333 bp in exon 16 of ALMS1 gene. By studying the transposable sequence, it was discovered that it belonged to the class of Alu Ya5 elements. When compared to the wild-type ALMS1 allele, the ALMS1Alu allele had a target site duplication which is characteristic of the Alu insertion mechanism. The long uninterrupted stretch of adenosine suggests that the sequence was inserted by a retrotransposable event. Heterozygous carriers of the mutated insertion was identified by haplotype analysis with chromosome 2p13-specific microsatellite markers and confirmed by PCR genotyping for the presence of the Alu allele. The wild type allele PCR product size is 313 bps, whereas the Alu allele PCR product size is 646
Alu elements are a class of transposable genes found exclusively in the genomic sequences of primates. Averaging in lengths of approximately 300 base pairs, Alu elements are classified as being short interspersed elements, more commonly referred to by the acronym SINEs. These elements interject themselves into the DNA sequence by means of retroposition. Once established into the genome, Alu elements are considered to be stable, only rarely being subjected to deletion. Initial studies on the prevalence of Alu inserts within the modern human genome was calculated to be nearly 5% (Comas, Plaza, Calafell, Sajantila, & Bertranpetit, 2001), however, more recent research indicates that the actual percentage of various Alu elements account for nearly 11% of the DNA sequence (Deininger, 2011). Alu elements are of great importance to scientists, particularly to those who wish to study evolution, as well as, migrational patterns of early human populations.
...G.E., Ioannou P.A., Scheer W.D., Herrera R.J. et al. 1994. Africa origin of human-specific polymorphic Alu insertions. Evolution Vol. 91: pp 12288-12292
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
Albinism is a genetically linked disease and is presented at birth; it is characterized as a lack of pigment called melanin that normally gives color to a person’s skin, hair and eyes. This results in milky white hair and skin, and blue- gray eyes. Melanin is synthesized from amino acid called tyrosine, which originates from the enzyme tyrosinase. Albinism affects all races and both sexes; people with this disease have inherited a recessive, nonfunctional tyrosinase allele from both parents (Saladin 189). The inheritance of Albinism is coded in the gene of the parent’s alleles. Alleles are two different versions of the same gene or trait and are found on the same place of a chromosome. One allele is coded for the production of melanin that will produce normal skin, hair and eye color and another allele that represent the lack of melanin that produces abnormal skin, hair and eyes.
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Albinism is a genetic condition present at birth, characterized by a small amount of melanin pigment in the skin, hair and eye. Albinism is an occasional inborn sickness related with vision difficult, which affect one in seventeen thousand persons. It is not a contagious disease and cannot be spread over contact. Albinism affects individuals from all races. Most folks with albinism have parents with a normal color of skin. Some may not even recognize that they are Albino until later on in their life. This paper will be based on the study of albinism, causes, types, the genetic transmission and some possible medical problem.
Antimicrobial drugs that block protein synthesis react with ribosomal-mRNA complexes. These drugs are safe only because bacterial ribosomes are different in size and structure compared to human ribosomes, however, they can damage human mitochondria since they can contain ribosomes like bacterial ribosomes.
Genetic engineering has been around for many years and is widely used all over the planet. Many people don’t realize that genetic engineering is part of their daily lives and diet. Today, almost 70 percent of processed foods from a grocery store were genetically engineered. Genetic engineering can be in plants, foods, animals, and even humans. Although debates about genetic engineering still exist, many people have accepted due to the health benefits of gene therapy. The lack of knowledge has always tricked people because they only focused on the negative perspective of genetic engineering and not the positive perspective. In this paper, I will be talking about how Genetic engineering is connected to Brave New World, how the history of genetic engineering impacts the world, how genetic engineering works, how people opinions are influenced, how the side effects can be devastating, how the genetic engineering can be beneficial for the society and also how the ethical issues affect people’s perspective.
Genes are, basically, the blueprints of our body which are passed down from generation to generation. Through the exploration of these inherited materials, scientists have ventured into the recent, and rather controversial, field of genetic engineering. It is described as the "artificial modification of the genetic code of a living organism", and involves the "manipulation and alteration of inborn characteristics" by humans (Lanza). Like many other issues, genetic engineering has sparked a heated debate. Some people believe that it has the potential to become the new "miracle tool" of medicine. To others, this new technology borders on the realm of immorality, and is an omen of the danger to come, and are firmly convinced that this human intervention into nature is unethical, and will bring about the destruction of mankind (Lanza).
This type of inheritance is called autosomal recessive inheritance. If a parent has a child with albinism, it means the parent must carry the albinism gene. Until recently, unless a person has albinism or has a child with albinism, there was no way of knowing whether he or she carries the gene for albinism. Recently, a test has been developed to identify carriers of the gene for ty-negative albinism and for other types in which the tyrosinase enzyme does not function. The test uses a sample of blood to identify the gene for the tryrosinase enzyme by its DNA code. A similar test can identify type-negative or similar albinism in unborn babies, by aminiocentesis.
Human genetic engineering can provide humanity with the capability to construct “designer babies” as well as cure multiple hereditary diseases. This can be accomplished by changing a human’s genotype to produce a desired phenotype. The outcome could cure both birth defects and hereditary diseases such as cancer and AIDS. Human genetic engineering can also allow mankind to permanently remove a mutated gene through embryo screening as well as allow parents to choose the desired traits for their children. Negative outcomes of this technology may include the transmission of harmful diseases and the production of genetic mutations. The benefits of human genetic engineering outweigh the risks by providing mankind with cures to multiple deadly diseases.
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...
One of the biggest concerns involved in gene therapy in humans is the lack of knowledge and the possibility for consequences later on or i...
Genetic alteration can be cause by many factors . One of the most common cause of gene alteration is aging. During this process the aged cell; DNA, RNA, and protein can be more likely to get broken, deleted, or added. As we all learned from the previous chapter ( Ch 2 Gene and Genetic Dieaseases) that these changes can cause mutuation in the genetic material, making the DNA susceptible to certain diseases to be passed down from one or both parent to the offspring. ######
Retro-viruses and gene-specific medications could be used to alter a person’s genetic code, ridding a person of inherited maladies such as heart disease or diabetes. With the introduction of some, if not all, of these different methods of treating ailments, we could effectively wipe out a large amount of diseases that would otherwise be untreatable. Senior citizens would no longer have to suffer from maladies such as Alzheimer’s or other such illnesses related to age. With these procedures, a child can grow up never having to suffer from a learning disorder such as ADHD (Attention Deficit Hyper-activity Disorder) or even cases of mental retardation by eliminating or modifying the genes that are responsible for these and other problems.