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Abnormal gene mutation cause blindness among young children

Genetic traits can be passed through families in several distinct patterns.

The most common patterns are the following: Dominant genetic diseases are caused by a mutation in one copy of a gene. Dominant diseases can also occur spontaneously; this happens when a random mutation in one gene occurs at conception.

  1. Next, you will be asked about your personal and family medical history, with particular attention given to signs and symptoms of genetic disorders.
  2. For some dominant genetic diseases, there may be specific DNA tests available.
  3. Having two copies of the mutated genes cause sickle cell anemia, but having just one copy does not, and can actually protect against malaria - an example of how mutations are sometimes beneficial.
  4. Other changes in genes can cause health problems. Genetic factors play a role in many kinds of eye disease, including those diseases that are the leading cause of blindness among infants, children and adults.

Examples of dominant genetic diseases include Achondroplasia and Huntington disease. For some dominant genetic diseases, there may be specific DNA tests available. Sex-linked genetic diseases affect males and females differently. This is a smaller set of diseases related to gene mutations on the X or Y chromosomes.

The Basics on Genes and Genetic Disorders

Some common examples include hemophilia and color-blindness. Depending on your family history, testing for a sex-linked genetic disease may be available.

Multifactorial traits occur due to many complex interactions and combinations of maternal, environmental and genetic influences.

  1. Because you have a pair of each chromosome, you have two copies of every gene except for some of the genes on the X and Y chromosomes in boys, because boys have only one of each.
  2. Cleveland Clinic Children's Cleveland Clinic Children's is dedicated to the medical, surgical and rehabilitative care of infants, children and adolescents.
  3. Examples of dominant genetic diseases include Achondroplasia and Huntington disease. Other times, however, they can cause illnesses, such as some types of cancer.
  4. All of these disorders are caused by the mutation of a single gene.
  5. The sickle-shaped blood cells clog in the capillaries, cutting off circulation.

The most common birth defects are members of this category, including congenital heart defects and cleft lip. Almost 1 child in 150 is born with a congenital heart defect and 1 in 500 with cleft lip.

Mutations and Disease

Another multifactorial condition is spina bifida, a type of an open neural tube defect. Spina bifida occurs in approximately 1 or 2 in 1000 births.

Inherited Eye Disease

Taking the vitamin folic acid folate helps reduce the chance of having a baby with spina bifida. In most cases predictive genetic testing is not available for multifactorial traits, however a family history assessment may provide more accurate recurrence risks. Chromosome abnormalities can occur in any pregnancy.

The Genetics of Glaucoma

A second type of chromosome abnormality is a change in the structure or organization of the chromosomes. These changes include deletions a small missing pieceinversions a piece flipped upside downinsertions an added pieceor translocations exchange of pieces involving two or more chromosomes.

Structural changes are not associated with maternal age. They can be passed from parent to child in many complex patterns and can be the cause of multiple unexplained miscarriages, birth defects, or apparent infertility.