Discover the Down Syndrome


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Info about Genetic Diseases

Genetic diseases are surely one of the mostconsideration a number of factors in order to
dangerous factors for human?s health. Thesesucceed a useful analysis. Diseases like
disorders are due to abnormalitites indiabetes, Alzheimer, arthritis are due to
genetic material (also known as genome) ofmulti  mutations.
humans. Genetic diseases are categorized in
four main types according to where does the3) Chromosomal Genetic Diseases: This type of
disorder  happens.genetic diseases is due to changes in the
structure and number of chromosomes. Besides,
The  four  types  of  Genetic  disorders are:chromosomal disorders can be caused by
segments and joins of parts of chromosomes.
1) Single-gene/monogenic Genetic Diseases: InWe all know that chromosomes are big DNA
this type of genetic diseases the abnormalitymolecules composed from genes. The human
happens in one gene. To be more specific, thegenome consists of 23 x 2 chromosomes. It is
starting point is a mutation in a singlemuch easier to observer because, sometimes, a
gene. This can lead to production of achromosomal genetic disease can be detected
defective protein that cannot carry out itswith microscopic examination. The most
function. This is what causes the single genepopular chromosomal disorder is the Down
disorder. There are 6000 known single geneSyndrome, where there is a third copy of
diseases, including cystic fibrosis, Aicardichromosome 21). In this disorder there is a
Syndrome  etc.third  copy  of  chromosome  21.
2) Multifactorial/Polygonic Genetic Diseases:4) Mitochondrial Genetic Diseases: These are
This category of genetic diseases is muchthe rarest genetic diseases. As we know,
more complicated. In this case mutationsmitochondrial DNA is a DNA molecule found in
happen in many genes. The phenotype (themitochondria, which is an organelle necessary
symptoms of the disease), in this case, is afor cellular respiration. It seems that
result of mutations combined with a specificmutations in the mitochondrial DNA can also
environment. These disorders are difficult tocause undesirable disorders.
analyze, because scientist should take into



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