Research Project : Using Relatedness Analyses

A SNP is a single nucleotide polymorphism, and this means that there are differences in a single base pair in a DNA sequence among members of a species, and as a result are the same alleles that make phenotypic differences. A halotype is a number of alleles that are on a single chromosome or can be on a part of a chromosome. SNP halotypes are determined by the use of what is called a tag-SNPs and is known to classify halotypes.

Imagine DNA as a ladder made of rungs — 3 billion in all — spiraling upward in a double helix. Each step is a base pair, designated by two letters from the nucleotide alphabet of G, T, A, and C. More than 99 percent of these base pairs are identical in all humans, with only about one in a thousand SNPs diverging to make us distinct. For instance, you might have a CG that makes you susceptible to diabetes, and I might have a CC, which makes it far less likely I will get this disease.

The recently completed human genome sequence has greatly assisted the detection of QTLs and polymorphisms (2). It must also be emphasized that genes do not directly dictate action, but rather are mediated by the proteins that they code for. It is necessary to examine not only the genes but also the assortment of proteins responsible for expression of particular traits (3)It is anticipated that detailed analysis of the human genome will contribute to understandings about gene organization and transcription, and hence regulatory elements that control expression. By utilizing genomic and proteomic tools, the relationship between gene/protein and behavior may be more accurately described.

In February 2001, Venter et al., reported on the “penultimate milestone” – the feat of mapping 95% of the euchromatic portion of the human genome (Venter et al., 2001). Multiple discoveries were made in the process of mapping the human genome: the number of genes (fewer than imagined); the percent difference between individuals (less than 0.1%); and new techniques (Polymerase Chain Reaction) (Venter et al., 2001; National Human Genome Research Institute, 2012).

Human genetics can play a major role in determining ones physical condition. One slight change in a genetic sequence can cause a disorder that can be life threating to the organism. Most of the genetic disorders are caused by recessive allele. In most cases this recessive allele is undetectable due to the disorder not being presented in the physical appearance. Hypercholesterolemia is an example of a human disorder controlled by a single gene. This human disorder causes high levels of cholesterol in an individual due to the absence of the low-density lipoproteins.

One of the main reasons I chose to research this gene is because of its association with

looking to find the start of disease-related genes start by looking at many past relatives, or

Rheumatoid arthritis is an autoimmune disease that accounts for roughly 0.6% of the population in the United States. The disease typically affects the elderly, but also affects older teenagers, young adults and affects women three times more than men. Rheumatoid arthritis is when a person’s immune system to attack the synovial membranes of the joints and causes inflammation. The genetic link of rheumatoid arthritis is not completely clear. However, it has been shown that having a family member with rheumatoid arthritis will increase the risk of developing the disease. There are currently two genes being looked at that has shown to be involved in the development of rheumatoid arthritis, HLA-DRB1 and PTPN22. These were discovered by looking at

Aim 1. Resolving the haplotype architecture of GHRd3 to determine its functional and evolutionary impact: In our preliminary studies, we have now resolved the haplotype architecture using focused analysis of thousands of genomes. This will allow us to thoroughly interrogate associations of different GHR haplotypes with metabolic and developmental diseases, expression and methylation and levels of neighboring genes in different tissues. In addition, using population genetics and model-based analysis of the newly resolved haplotypes will enable us to trace back the adaptive pressures acting on the locus, shedding light on the evolutionary forces maintaining this deletion in the population.

From studies on zebrafish genetics, we have discovered the structure of over 20,000 genes that are present in the human body.

In this article, the researchers sought to determine if linkage disequilibrium could be used to map disease-causing genes. This is of practical importance to the human population in that, it could lead to earlier diagnosis and prevention or delay of disease progression. The researchers evaluated work of previous studies and expanded it to a larger section genome samples. This allowed the researchers to obtain a greater depth of knowledge in comparison of multiple regional ethnicities. Linkage disequilibrium is the non-random association of alleles at different loci. Disequilibrium occurs when the frequency of a certain allele is either higher or lower than the expected value given by independent assortment and random association. Linkage disequilibrium

This genetic material is known as deoxyribonucleic acid, or DNA. Different genes of those variations are known as alleles (Upadhyaya, 2017). Alternating forms usually result in the traits, either recessive, and dormant or dominant and visible. The primary technique used in this experiment is that of DNA fingerprinting and it uses the information stored in the alleles and genes to identify the individuals. DNA fingerprinting is the characterization of an individual’s genomes.

Although the genetic information pouring in from research efforts are able to identify DNA variants that alter protein sequence, taking this information and translating it into a functional explanation for disease susceptibility is quite another matter (Kumar, Dudley, Filipski, and Liu, 2011). Since laboratory studies cannot replicate the natural environment within which these potentially functional variants arise and therefore may produce misleading results, researchers have turned to the growing body of phylogenetic information, which represents a natural laboratory that has been running experiments for millions of years.

However, the same SNPs may be found among several populations and is limited by the diversity of the SNP database, thus potentially producing false positives ("Admixture Analyses").

Nowhere do genes exhibit their vital role more dramatically than in the case of genetic disorders. Genetic scientists have uncovered an increasing number of genes that code for diseases such as sickle-cell anemia, Turner syndrome, and many others. It has further been shown how the slightest alteration of the human genome leads to exaggerated, often disastrous results.