Custom «Human Genome Databases / Disease Genes» Essay Paper Sample

Human Genome Databases / Disease Genes

Various diseases are associated with genes. The diseases are as a result of genetic mutation. Uncontrolled cell division leads to cancer. Cells division entailed detailed signal communication, with a mechanism for errors control. Cancer is triggered when mutation occurs in one or more nodes in the cause of cell division. the causes of mutation includes the genetic predisposition and environmental factors. Cancer prompting factors add up, resulting in malignant growth. The factors range impairment of the DNA repair pathway. The gene can be transformed to a ontogeny. The genes responsible for tumor suppression can malfunction, leading to mutation.

Genes are important component of heredity. Genes are a stretch of the DNA that living organism depends on for heredity purposes. Every gene has a particular location. Through genes, the genetic traits are passed. The nucleotides belonging to each gene follow a specific and orderly sequence (Novel Mutations, 2002).

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The world over, breast cancer has been recorded as not only most common type of female malignancy, and a leading cause of mortality among the women especially the middle aged. There are various forms of mutations associated with this gene. This includes the putative mutation and polymorphisms. The technological advancement has led to early detection of the disease.

Mutations depict changes in genomic sequence. Mutation may be caused radiation, transposms and viruses. The main concern of this paper is the mutation that results from errors that occurs during the DNA meiosis, also referred to as DNA replication. Changes in different DNA sequences can result in mutation. Mutation that changes a protein produced by a gene, the results can be harmful. The organisms have mechanism for remedying against the harm caused by mutation. The repair is done through a mechanism known as DNA repair. The DNA repair mechanism removes mutations (The Gene Getaway Workbook 2008).

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It is important to learn how an associated gene causes a genetic disorder. For a mutation to occur, the process can be understood through the use of a chromosome map, which identifies a gene on each chromosome. The process entails examining the sequence of the amino acid.

Hereditary hemochromatosis, entails a disorder where excess accumulation of iron occurs in certain tissues and even organs. This emanates from the changes occurring in DNA sequence of a given gene. The hereditary hemochromatosis is an autosomal disorder.

The most predominant mechanism associated with cancer therefore includes the impairment of the DNA repair pathway. The normal gene can also be transformed into an octogene. The tumor suppresser gene malfunction can also lead to cancer.

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The following illustration shows what is referred as the molecular biology which shows the interrelations between the, the DNA, the RNA and PROTEIN. The genetic information is stored in DNA.

Genes are therefore important components of the DNA. The RNA acts as messagers or intermediates. Genes have exons and introns. Introns are intervening segments of DNA that separate exons (The Gene Getaway Workbook, 2008).

The use of genomic data and high through technology reveals the proteins encoding of genes. The information obtained reveals fundamental processes that are involved in genomic processes. The DNA sequences are revealed. There is association between mitochondrial DNA and the functioning of the nervous system. The mDNA is associated with the functioning of the nervous system.

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Special cellular component known as ribosome's use what is known as triplet genetic codes to ensure that the amino acids are linked together. Proteins creation entails the linking together of amino acids. They form polypeptide chains.

Genomes depict the total complement of genes in an organism. The locus is the specific region in a chromosome where a gene is located. Chromosomes are made up of a long DNA helix. In a chromosome, thousands of genes are encoded.

Breast cancer is caused by uncontrolled multiplication of certain cells. The uncontrolled multiplication causes a tumor in the breast. Breast cancer can be looked at as a heredity disease. Cancers results from the genetic mutation of genes. a damaged DNA hence allows the cell to divide uncontrollably, thus developing in tumor.

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The breast cancer has a genetic link. The susceptibility genes that were identified in 1994 includes BCR1 (Chromosome 17) and BCR2 (Chromosome 13). The function of these genes was a recent discovery. Studies have revealed that these two genes repair radiation induced breaks in the double stranded DNA. Mutation in this genes leads to errors in DNA replication. The erroneous replication leads to cancerous growth.

The disease has hereditary tendencies. Preventive programs have been rolled out to curb the mortality associated with the disease. Screening reduces the advancement of the disease.

BRCA1 and BRCA2 associated with the breast cancer are large genes. The BRCA1 have 24 exons while BRC2 have 27 exons.

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Distinct mutation and alterations occurs in these genes. Proteins and genes are associated with genetic traits (Novel Mutations, 2002).

Developing organisms experience devastating problems as a result of DNA damage. Studies have shown that BRCA1 are essential in recombination repair. The BRCA1 also plays part in non homologous end joining. The absence of the BRCA1 was found to result in chromosome damage. These may result into cell abnormalities. The overall outcome of the same is the developmental abnormalities leading to adult tumorigenesis. BRCA1 is therefore essential in repairing DNA damage. It is also linked to the cellular responses that link the cells development and cancer.

DNA damage is a lifetime occurrence for any organism. Both exogenous factors and the endogenous ones are the causal factors. The exogenous factors include ionizing radiation, the ultraviolet lays, factors associated with air pollution. The endogenous factors include the unavoidable errors occurring in certain cellular processes. There is also homologous joint repair, neleotide repair. The DNA also undergoes nucleotide repair and base march repair. The other repair is mismatch repair.

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The Germiline mutations of the gene BRCA have been found as a factor that predispose women to ovarian and breast cancer. The BRCA1 interacts both directly and indirectly with proteins responsible for multiple but important functions in relation to biological related pathways (Human Molecular Genetics, 1990).

The NCBI map viewer is an important tool used for viewing an organism genome that is web-based. The NCBI map viewer displays genomes. It also reveals genomic sequence. The NCBI provides an organism home page, for example the Homo sapiens. The NCBI provides a complete view of a selected region. The NCBI then provides the sequencing data of the specific genome region. The viewer can be used for vertebrates and invertebrates. Using the NCBI the users are able to view the individual chromosomes maps and zoom the same to specific region in chromosomes. Genomes are sequently explored at various levels. The NCBI maps are useful to the researchers. The focus is the location of scope of activity. S specific gene can hence be located based on a chromosome map. Map viewer therefore provides various types of maps for various animals. To use the map, it is a requirement for one to be familiar with the official symbol given to the gene. One should also be familiar with the number of chromosomes.

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The NCBI shows locus, a description for a region within chromosome, in which a gene is located. Using NCBI, the short and long arm of a chromosome is identified. The short and long arms are separated by centromere. By straining the chromosomes in a lab, light and dark bands appear. High numbers depict the distance the band is from centromere (OpenHelix (2009).


The process of genes navigation involves clicking on the navigation bar. The disease is then searched by disease screen. The gene reviews is done by entering hermatosis into search box. On selecting review, the heredity hemachromatosis is shown. One then accesses molecular genetics. The use of NCBI is useful in the analysis.











In accessing a chromosome map, I used the NCBI map view home page. The second step was selecting the Homo sapiens (Humans). This was taken from search drop box. The other step was clicking on the Homo sapiens under mammals, on the tree structure displayed on the home page. The Homo sapiens genome will then be displayed. The Gene symbol is then entered in the search box. Enter the chromosome numbers. Then search for chromosome link and access the help document. Click on the find so as to submit the query. The genome view marching the query is displayed (Genes and Disease, 1998).

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