Genetic mutation can be the direct cause of diseases

Genetic mutations are rarer than polymorphisms. Many genetic mutations have overt effects on our health and have been shown to be the direct cause of many hereditary diseases (as opposed to disease-associated SNPs, which has subtle effects on our health and merely alter the risk of disease development).

Presence of mutations confirms disease diagnosis

An example of hereditary mutation-causing disease is Familial Hypercholeserolemia (FH). FH is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol levels beginning at birth, and heart attacks at an early age. FH is inherited in families in an autosomal dominant manner. In autosomal dominant inherited conditions, a parent who carries a mutated gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children. FH-causing mutations have been identified on LDLR, APOB and PCSK9 genes. The identification of these disease-causing mutations allows easy diagnosis of hereditary diseases. We call this type of test a diagnostic test.

• Genetics in Brief

• Genetic Polymorphisms and Predisposition to Diseases

• Genetic Mutations and Inherited Disease

• Genetics and Response to Medical Treatment

• Genetics and Disease Prognosis

• Unlocking the Secret of Human Genome

◊ DNA Sequencing
◊ Microarray