TRANSTHYRETIN EXON-1 - TO SCREEN OR NOT TO SCREEN - A SIMPLE SOLUTION

When a patient in a kindred without a known TTR variant is diagnosed w ith TTR amyloidosis, studies to determine whether the patient has a TT R variant are often undertaken, but whether TTR exon 1 should be inclu ded in this process is not standardized. A simple screening method for exon 1 coding mutations, utilizing a single polymerase chain reaction followed by two restriction digestions and agarose gel electrophoresi s, is presented. This method, much simpler than single strand conforma tion polymorphism or sequencing, makes exon 1 mutation screening simpl e and practical on a routine basis.