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BI317 Human Molecular Genetics Assignment Example NUI Galway Ireland

BI317 Human Molecular Genetics course will focus on the structure and function of genes at the molecular level. We will discuss how aberrant gene function can lead to human disease, and how this knowledge can be harnessed for diagnosis and treatment. Topics will include DNA replication and repair, transcription, RNA processing, translation, genetic regulation, cancer genetics, epigenetics, and genomics. The course will also include a practical component in which students will learn how to extract and sequence DNA from cells.

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In this course, there are many types of assignments given to students like a group project, individual assignment, continuous assessment, report, business plan, business proposal, executive summary, and other solutions are given by us.

In this section, we are describing some assigned tasks. These are:

Assignment Task 1: Describe the structure and explain the techniques for studying human chromosomes.

The human chromosomes are the structures inside the cells that carry genetic information. The chromosome is made up of DNA, proteins, and other molecules. The DNA is organized into genes, which are the instructions for making proteins. The proteins play important roles in the structure and function of the chromosome. The techniques for studying human chromosomes include microscopy, karyotyping, and DNA sequencing.

  • Microscopy: Microscopy is the technique of using a microscope to view objects that are too small to see with the naked eye. Chromosomes can be seen with a microscope when they are stained with a dye.
  • Karyotyping: Karyotyping is the technique of arranging the chromosomes in a person’s cells into a picture called a karyotype. The karyotype can be used to identify genetic disorders.
  • DNA Sequencing: DNA sequencing is the technique of determining the order of the nucleotides in DNA. This information can be used to identify genes and mutations.

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Assignment Task 2: Describe common human chromosomal abnormalities.

There are many different types of chromosomal abnormalities. Some of the most common ones are listed below.

  • Down Syndrome: Down Syndrome is a genetic disorder caused by an extra copy of chromosome 21. This leads to developmental delays, intellectual disability, and characteristic facial features.
  • Klinefelter Syndrome: Klinefelter Syndrome is a genetic disorder caused by an extra copy of chromosome 21. This leads to developmental delays, intellectual disability, and characteristic facial features.
  • Turner Syndrome: Turner Syndrome is a genetic disorder caused by the absence of one copy of chromosome 18. This leads to short stature, lack of pubertal development, and infertility.
  • Cri-du-Chat Syndrome: Cri-du-Chat Syndrome is a genetic disorder caused by the deletion of part of chromosome 5. This leads to intellectual disability, developmental delays, and characteristic facial features.

Assignment Task 3: Explain fundamental genetic concepts including, Mendelian inheritance, quantitative traits, linkage, and linkage disequilibrium.

Mendelian Inheritance: Mendelian inheritance is the principle that genes are passed down from parents to their children in a predictable manner. This means that genes for a particular trait will be inherited together.

Quantitative Traits: Quantitative traits are traits that are determined by multiple genes and the environment. These traits are usually measured on a continuum, such as height or weight.

Linkage: Linkage is the principle that genes that are close together on a chromosome are more likely to be inherited together than genes that are far apart.

Linkage Disequilibrium: Linkage disequilibrium is the non-random association of alleles at different loci. This can occur when there is a mismatch between the genes on the chromosomes and the alleles that are actually being inherited.

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Assignment Task 4: Describe the organization of the human genome.

The human genome is organized into 23 pairs of chromosomes and contains approximately 3 billion nucleotides. The nucleotides are organized into genes, which are the instructions for making proteins. Proteins play important roles in the structure and function of the chromosome. Genes can be found on all of the chromosomes, but they are most concentrated on chromosomes 1, 2, and 3. The majority of the genome is made up of non-coding DNA, which does not encode for proteins. This DNA includes regulatory sequences, repetitious sequences, and Junk DNA.

Assignment Task 5: Describe human genetic variability and its consequences.

Human genetic variability refers to the differences in DNA sequence among individuals. This can lead to differences in physical appearance, disease susceptibility, and response to medications. The amount of genetic variability is influenced by many factors, including population size, mating patterns, and mutational rates. Genetic variability is important because it helps ensure that a population can adapt to changing environmental conditions. It also increases the chances of producing offspring with better-adapted traits. However, genetic variability can also lead to disease. Some diseases are caused by a single mutation in a gene, while others are the result of multiple mutations. Diseases that are caused by multiple mutations are often more severe and more difficult to treat.

When it comes to human genetic variability, there are a few key things to keep in mind. First, every individual has a unique DNA sequence. Second, genetic variability can lead to both positive and negative consequences. And finally, the amount of genetic variability is influenced by many factors.

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Assignment Task 6: Explain the techniques used to identify and map genes conferring susceptibility to disease.

There are a few different techniques used to identify and map genes conferring susceptibility to disease.

  • One common technique is a linkage analysis, which looks at how often a gene is passed from parent to child. If the gene is passed along more often than would be expected by chance, then there is likely a link between that gene and the disease.
  • Another common technique used to identify disease-related genes is called a genome-wide association study (GWAS). This technique involves scanning the entire genome for variations that are associated with the disease. Variations that are found more often in people with the disease than in people without the disease are likely to be involved in causing the disease.
  • Finally, animal models can be used to study the genetics of diseases. This involves creating animals that have mutations in genes known to be associated with the disease. The animals are then studied to see how the disease develops and to identify new genes that may be involved in causing the disease.

Assignment Task 7: Describe genetic changes that result in, or are a consequence of, cancer.

Cancer is caused by genetic changes that result in the uncontrolled growth of cells. These changes can be inherited, but they are more often the result of mutations that occur during a person’s lifetime. The most common type of cancer-causing mutation is a point mutation, which is a change in a single nucleotide. Other types of mutations that can lead to cancer include deletions, insertions, and inversions. Cancer-causing mutations can occur in any type of cell, but they are most common in cells that divide frequently, such as blood cells and skin cells.

Cancer is a very complex disease, and many different genetic changes can result in or contribute to the development of cancer. However, the most important thing to remember is that cancer is caused by genetic changes that lead to uncontrolled cell growth. These changes can be inherited or acquired during a person’s lifetime.

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Assignment Task 8: Describe the impact that moleular genetics will have on human health.

Molecular genetics is the study of the structure and function of genes at the molecular level. This field of research is important because it allows us to understand how genes work and how they are regulated. Molecular genetics has already had a huge impact on human health, and it is likely to have even more impact in the future.

There are many different applications of molecular genetics in the field of medicine. For example, molecular genetics can be used to identify genes that are involved in causing diseases. This information can then be used to develop new treatments and therapies. Molecular genetics can also be used to screen for genetic disorders before a baby is born. And finally, molecular genetics can be used to study the genetic basis of diseases. This information can be used to develop new treatments and to identify people who are at risk for developing a particular disease.

Molecular genetics is a rapidly expanding field of research, and it is likely to have a profound impact on human health in the future. It has already had a huge impact on the diagnosis and treatment of diseases, and it is likely to have even more impact in the future.  For example, molecular genetic techniques can be used to identify individuals who are at risk for developing a particular disease. This information can then be used to develop prevention or treatment strategies for those individuals. Molecular genetic techniques can also be used to develop new medications and therapies for diseases. In addition, molecular genetics is helping us to understand the causes of many diseases, which will ultimately lead to better treatments and prevention strategies.

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