Genetics

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Genetics

If a gene is abnormal, it may code for an abnormal protein or for an abnormal amount of a normal protein. Since the autosomal chromosomes are paired, there are 2 copies of each gene. If one of these genes is defective, the other may code for sufficient protein, so that no disease is clinically apparent. This is called a recessive disease, and the gene is said to be inherited in a recessive pattern.

In the case of a recessive disease, if one abnormal gene is inherited, the child will not show clinical disease. However, each child of these parents will stand a 50% chance of inheriting the abnormal gene. If one abnormal gene produces disease, this is called a dominant hereditary disorder. In the case of a dominant disorder, if one abnormal gene is inherited from mom or dad, the child will likely show the disease.

A person with one abnormal gene is termed HETEROZYGOUS for that gene. If a child receives an abnormal recessive disease gene from both parents, the child will show the disease and will be HOMOZYGOUS for that gene.

If two parents are each heterozygous for a particular recessive disease gene, then each child has a 25% chance of being homozygous for that gene and therefore, of showing the disease. If one parent is homozygous and the other heterozygous, then each child has a 50% chance of being homozygous.

GENETIC DISORDERS

Almost all diseases have a genetic component, but the importance of that component varies. Disorders where genetics play an important role, so-called genetic diseases, can be classified as single gene defects, chromosomal disorders, or multifactorial.

A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair. Single gene defects are rare, with a frequency of less than 1 in 200 births. But since there are about 6,000 known single gene disorders, their combined impact is significant.

The incidence of serious single gene disorders is estimated to be about 1 in 200 births.