Research Paper on Genetic Diseases

Genetic disease is a deviation or physiological function deficiency caused directly by the properties of the genetic material, stored in chromosomes.

Those who want to write a good free sample research proposal on calligraphy must know that many genetic diseases are caused by mutations in a gene, either in the actual coding sequence or the regulatory sequences that control how much and when the gene is expressed. There may be a point mutation, as well as rearrangements of longer sequences of DNA. Genetic diseases may also be due to abnormal genetic make up, such as Down’s syndrome due to an extra chromosome 21, Turner syndrome, which depends on the individual to have a single X chromosome and no Y chromosome and produces a phenotype with short stature, women who are always sterile and generally also exhibit some typical body features. However other chromosomal example, where a piece of a chromosome reaching a different chromosome, are present. Most chromosomal abnormalities have a low heritability compared to what one would expect according to Mendel’s laws, because they usually lead to miscarriage.

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There are also discrepancies where a particular repetitive sequence on a chromosome becomes longer and longer. This is because the enzyme as in cell division builds up the long DNA chain that forms the chromosome, DNA polymerase, not quite able to read these long repetitive sequences, but “catches up.”

Such deviations can typically erupt when the individual cells have undergone so many cell divisions that the repetitive sequence become so long that it causes problems for the expression of any gene.

The deviations due to a single gene are called monogenic abnormalities. A large number of such deviations are known, but most are very rare. One can fairly safely say that not many reasonably common monogenic abnormalities will be discovered. Today’s genetics therefore concentrates more on the very field expanding range of abnormalities caused by genetic variants in multiple genes, often in combination with environmental factors. Color blindness is due to a gene but is not classified as an aberration. There are severe and even fatal monogenic abnormalities, such as Tay-Sachs.

The basic genetic theory assumes that genes are inherited either dominant or recessive, or more rarely additive such as when you cross a red flower with a white, and the offspring will be pink. The molecular basis of this color in a flower is that two genes that gives the red color gives a red flower, no functional gene for red color gives white flower and an edition of the gene gives some color pigments but not so much so that the flower turns pink. If the gene that causes the disease is located on one of the inherited sex chromosomes the sex is linked. If the gene is located on the normal chromosomes, autosomerna, the disease is autosomal.

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