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Tags: 7, chromosome, cystic fibrosis chromosome, cystic fibrosis chromosome 7, cystic fibrosis chromosome map, cystic fibrosis chromosome number, cystic fibrosis chromosome number affected
Types of Genetic Diseases
Genetic diseases are caused by abnormalities in genes or chromosomes. A genetic disease occurs when a person has more than one abnormal gene. Genes as "missing genes", "extra genes", "inactivated gene or too active genes lead to disorders genetic. Genetic diseases can be transmitted from parents to children through uncertainties genetic mutations that occur during embryonic development. As Thus, if a person develops a genetic disorder erratically, he or she can pass the genes of their son or daughter. In some cases, genetic disorders occur when the structures of amino acids that are poorly copied genes leads to loss insensitive, additions or substitutions that cause the structure to mutate. When the gene is mutated proteins can not function properly, resulting in genetic alterations. There are 6,000 known genetic diseases. This article, however, only deals with certain genetic disorders, the most important. To learn more about them, read on.
Different types of genetic disorders
Alpers 'disease'
Alpers disease Alpers syndrome, also known is a rare progressive neurological disease that causes progressive deterioration in gray matter in the brain. Result of mental retardation, hypotonia (low muscle tone), spasticity, stuttering, dementia, muscle, etc.
Anophthalmia syndrome
anophthalmia syndrome is a genetic disease that involves abnormal development of the eyes and other body parts. Here, individuals have no eyes visible, and eye tissue remains. Individuals with this syndrome may also have brain abnormalities, slow growth, delayed motor skills, problems learning, etc.
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Hemophilia
Hemophilia is in a group genetic disorder known as hereditary bleeding disorder in which blood does not clot. With the lack of clotting factor in the body, is needed time for blood clotting after an injury or accident. A patient with hemophilia do not bleed as compared to the average person. However, he or she can bleed for long periods of time. In severe hemophilia, even a small injury can cause bleeding that lasts several days or weeks or even in some ways quite healing.
Down syndrome, cystic fibrosis
Cystic fibrosis is a genetic disorder that affects the entire the body leading to disability and death slowly but surely. A low resistance and thickness of lead to the production of mucus regular lung infections, which can be treated but not cured. It is a disease that affects various glands and results in the secretion of thick mucus that blocks internal passages, including the lungs, causing and respiratory infections. Cystic fibrosis syndrome particularly affects the lungs and digestive system.
Albinism
Albinism is a disease inherited in which there is no minute or completely melanin production in hair, skin and iris of the eye. For this reason, Albinos (people with albinism) have very light hair color, eyes and skin. It is caused by recessive alleles of the parents. There is no known cure for this disease, but symptoms can be alleviated with the help surgical intervention, visual aids and devices that help protect the victim against the use of sunlight.
Progeria
Progeria is a rare disease that produces rapid aging starting in childhood. Its symptoms resemble normal human aging robust, but crops in small children. 90% of children who languish with progeria have a mutation in the gene that encodes the protein lamin A. This disease occurs more often without cause and is very rarely observed more than one child in a family
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Birth defects: An entry from UXL’s UXL Encyclopedia of Science $3.90 This digital document is an article from UXL Encyclopedia of Science, brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses. The length of the article is 807 words. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it wit… |
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Genetic Modulators of Pulmonary Function in Cystic Fibrosis & Genetic Susceptibility Factors of Emphysema $97.50 This is a Ph.D. thesis. CF is one of the most common lethal autosomal recessive affecting the Caucasian population with an incidence of about 1 in 2500 births. Clinical manifestations are attributed to mutations in the CFTR gene, which encodes an epithelial chloride channel. Specific mutations can influence the severity and progression of CF disease, but wide variations within genetically homo… |