ABSTRACT
This chapter considers several common inherited single gene disorders, molecular testing methods and strategies. Trinucleotide repeat disorders constitute a class of diseases in which the mechanisms are excessive copies of triplet repeating units. Fragile X syndrome is a genetic condition that causes a wide range of mental impairments, from mild learning disabilities to severe mental retardation and is the most common cause of inherited mental retardation. Advancement in the field of fluorescent technology and its application to molecular biology have proven useful in fragile X analysis. Huntington’s disease (HD) is a fatal autosomal-dominant genetic disease that destroys neurons in areas of the brain involved in emotions, intellect and movement. Pre-symptomatic testing may involve patient enrollment in an approved HD testing center that provides a multidisciplinary approach to both pre test genetic and post-test genetic and psychological counseling and neurological evaluation.
