Humans have thousands of genetic disorders, some of them are very common and a few are rare. Some disorders are incurable and scientists are trying to find their cure. More research work is required for the cure of these disorders. Now here is a broader view of human genetics and numerous genetic disorders in humans.
In humans, there is an information hidden in chromosomes (is a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order) about how a person will look like, what would be his skin color and hair color, how tall he should be, and the disease that he may be prostrate to (which are mentioned to as a genetic disorder in human). As we know that, chromosomes have this coded information in the form of nucleotide sequences. These nucleotide sequences form the DNA molecules. Every organism's chemical information is particularly coded in the nucleotide sequences of genes (is a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity). In various biochemical reactions these genes, that code for an enzyme, plays a vital role. Furthermore, a specific gene encompasses a specific sequence of nucleotide. These nucleotide bases are accountable for the association of amino acids in the precise order to frame an enzyme. And genetic disorders in humans are caused by any interruption in these nucleotide sequences.
Now by understanding all the information about genetics will help us unknot the chemical scheme of human beings. This will also enable us to deal with genetic disorders in humans. That's why a lot more research has been done in the field of human genetics because there are some disorders that are not curable yet and researchers are trying hard to find cure for these disorders.
Abnormalities caused by Genetic Disorders:
In humans genetic disorders are caused by abnormalities in chromosomes or genes. As we have discussed earlier these defects took place in nucleotide sequences and may result in a genetic disease. Some of the flaws can be caused by the subsequent mechanisms;
• Mutations: These are defined as a change in genetic structure of an organism. In other words, these are chromosomal alteration in the inherited nucleotide sequence of a gene.
• Deletion: Loss of a chromosomal part or absence of one or more nucleotides from a chromosome.
• Inversions: This is another kind of mutation in which a portion of chromosome has broken off or reversed and reattached at the original location in a section of a chromosome.
• Duplications: In this type of mutation a section of chromosome is duplicated in a result of extra amount of genetic material.
• Translocations: This type of mutation takes place between two chromosomes and interchanges their chromosome segments. In other words, a portion of chromosome is transferred on to other chromosome.
• Aneuploidy: It is defined as an abnormality caused when a chromosome number is not an exact multiple of haploid number. This could be done due to presence of an extra copy of a chromosome (trisomy (chromosomal abnormality in which there is one more than the normal number of chromosomes in a cell), tetrasomy, etc) or a loss of a chromosome (monosomy or chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number).
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