Genetic Disorder

A genetic disorder, or genetic disease is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. There are a number of possible causes for genetic defects:

• They may be caused by a mutation in a gene, affecting its function.
• There are genetic disorders caused by the abnormal chromosome number, as in Down syndrome (extra chromosome 21) and Klinefelter's syndrome (a male with 2 X chromosomes).
• Triplet expansion repeat mutations can cause Fragile X syndrome or Huntington's disease, by modification of gene expression or gain of function, respectively.
• Defective genes are often inherited from the parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.

Currently around 4,000 genetic disorders are known; new ones are constantly discovered. The vast majority of these disorders are quite rare, and affect one person in every several thousands or millions. Cystic fibrosis is the most common genetic disorder; around 5% of the population of the United States carry the defective gene.

Single gene disorders

A number of genetic disorders are due to the change of a single gene, resulting in an enzyme or other protein not being produced or having altered functionality, they are called monogenic disorders. The change can be trivial and relatively harmless in its effects, such as color blindness, or lethal such as Tay-Sachs. Other disorders, though harmful to those afflicted with them, appear to offer some advantage to carriers; as in carriers of sickle cell anemia and thalassemia appearing to have enhanced resistance to malaria. Several hereditary diseases are sex-linked, meaning that they afflict one sex much more common than the other because the mutation is located on the X (or, rarely, on the Y) chromosome.

Transmission of single gene disorders

Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the following ways, however genomic imprinting and uniparental disomy may affect inheritance patterns. The divisions between recessive and dominant are not "hard and fast" although the divisions between autosomal and X-linked are (related to the position of the gene). For example, achondroplasia is typically considered a dominant disorder, but kids with two genes for achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers of. Sickle-cell anemia is also considered a recessive condition, but carriers of it have increased immunity to malaria in early childhood, which could be described as a dominant condition.