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A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.
The diseases may have more in common than generally recognized since similar risk factors are associated with multiple diseases. Families with close relatives are more likely to develop one of the disease than the common population. The risk may heighten anywhere between 12 and 50 percent depending on the relation of the family member. [4]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Traits controlled by two or more genes are said to be polygenic traits. Polygenic means "many genes" are necessary for the organism to develop the trait. For example, at least three genes are involved in making the reddish-brown pigment in the eyes of fruit flies. Polygenic traits often show a wide range of phenotypes.
A polygene is a member of a group of non-epistatic genes that interact additively to influence a phenotypic trait, thus contributing to multiple-gene inheritance (polygenic inheritance, multigenic inheritance, quantitative inheritance [1]), a type of non-Mendelian inheritance, as opposed to single-gene inheritance, which is the core notion of ...
By contrast, polygenic disorders are caused by several genes, regularly in combination with environmental factors. [7] Examples of genetic phenotypes include Alzheimer's disease , breast cancer, leukemia, Down syndrome, heart defects, and deafness; therefore, cataloguing to sort out all the diseases related to genes is needed.
In genetics, a polygenic score (PGS) is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype. The PGS is also called the polygenic index (PGI) or genome-wide score; in the context of disease risk, it is called a polygenic risk score (PRS or PR score [1]) or genetic risk score. The score reflects an ...
Research has shown that schizophrenia is a polygenic disorder and that genetic vulnerability to schizophrenia is highly multifactorial, caused by the interactions of several genes with environmental risk factors. [2] Twin studies have shown that an identical twin has ~50% risk of also developing the disorder. [14]